Q05655
SS
Gene name |
PRKCD (PKCD) |
Protein name |
Protein kinase C delta type |
Names |
EC 2.7.11.13 , Tyrosine-protein kinase PRKCD , EC 2.7.10.2 , nPKC-delta [Cleaved into: Protein kinase C delta type regulatory subunit; Protein kinase C delta type catalytic subunit , Sphingosine-dependent protein kinase-1 , SDK1] |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5580 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
PRKCI, an atypical PKC (aPKC) isoform, is an important kinase in multiple cellular processes and regulated by the phosphatidylinositol 3-kinase product phosphatidylinositol 3,4,5-(PO4)3 (PIP3). In aPKC molecule, the arginine motif (123-140) in the pseudosubstrate region on the regulatory domain binds to acidic residues in the substrate-binding region on the catalytic domain, leading to the off state of aPKCs. The autoinhibition of aPKC is released by binding with the acidic ligand PIP3 and consequently exposing the substrate-binding site.
Autoinhibitory domains (AIDs)
Target domain |
325-676 (Catalytic domain of the Serine/Threonine Kinase, Atypical Protein Kinase C iota) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
490-513 (Activation loop from InterPro)
Target domain |
353-668 (Catalytic domain of the Serine/Threonine Kinase, Novel Protein Kinase C delta) |
Relief mechanism |
|
Assay |
|
490-513 (Activation loop from InterPro)
Target domain |
349-668 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Ivey RA et al. (2014) "Requirements for pseudosubstrate arginine residues during autoinhibition and phosphatidylinositol 3,4,5-(PO₄)₃-dependent activation of atypical PKC", The Journal of biological chemistry, 289, 25021-30
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
Autoinhibited structure
Activated structure
3 structures for Q05655
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YRK | X-ray | 170 A | A | 1-123 | PDB |
| 2YUU | NMR | - | A | 149-218 | PDB |
| AF-Q05655-F1 | Predicted | AlphaFoldDB |
417 variants for Q05655
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000693078 CA2451623 rs368029897 |
8 | A>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001316718 CA2451626 rs369358922 |
15 | G>A | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs144572650 RCV000818271 CA2451632 |
23 | A>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246177 rs1703300399 |
30 | V>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553666756 RCV001342972 |
47 | K>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA74848413 rs913175157 RCV001340311 |
57 | S>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA2451703 RCV000819270 rs781950537 |
68 | V>I | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000538649 CA2451705 rs151061939 |
72 | V>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2451706 RCV001038721 rs151061939 |
72 | V>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782298081 CA2451715 RCV001218559 |
86 | V>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1015113720 RCV001315325 CA74848492 |
90 | V>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA353233354 rs963574725 COSM99106 RCV000809137 |
94 | R>C | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs561142814 RCV001210040 CA2451724 |
99 | N>K | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2451764 RCV001058603 rs370069134 |
125 | V>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070545 rs200939049 CA2451789 |
132 | R>H | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA353233977 RCV000816095 rs56208295 |
139 | F>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA74849520 rs370103982 RCV001053969 |
153 | I>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA353234506 rs1240610213 RCV001341991 |
177 | D>E | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1378624159 RCV000799460 CA353234636 |
183 | N>K | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs576747810 COSM3927383 COSM3927384 RCV001231375 CA2451828 |
191 | Q>* | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000796846 rs782475090 CA2451893 |
194 | A>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000651927 CA74812220 rs977894332 |
195 | A>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2451896 RCV000690095 rs149165175 |
202 | D>N | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000816082 rs1575537929 CA353219798 |
204 | I>F | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs957946153 RCV001070448 CA74812232 |
206 | G>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001320243 CA2451901 rs782237403 |
212 | A>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2451905 rs782428011 RCV001325888 |
216 | R>Q | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1311722771 CA353219884 RCV001221098 |
218 | T>A | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2451946 RCV001289607 rs782573482 |
235 | V>I | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2451947 rs369236318 RCV000555820 |
239 | M>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313618 rs1703547897 |
248 | G>D | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267783 rs144320413 CA2451950 |
248 | G>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001036343 CA353220342 rs1371733624 |
267 | N>H | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA353220626 RCV001301866 rs1553668642 |
276 | V>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1186631774 RCV001325024 CA353220726 |
290 | A>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2451989 RCV001211123 rs782223934 |
295 | T>I | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782243565 CA2452012 RCV000544622 |
297 | R>K | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047130 rs1703646229 |
299 | S>F | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143488209 RCV001039743 CA2452015 |
300 | R>Q | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001055862 rs1703647874 |
309 | P>A | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA353220857 rs773144753 RCV000695715 |
310 | V>I | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553668823 CA353220884 RCV000690189 |
314 | Q>E | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000756563 RCV000821649 rs55929201 CA2452022 |
317 | E>K | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2452024 rs372047510 RCV000796220 |
321 | G>R | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2452065 rs140359417 RCV001206464 |
331 | S>G | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1703664468 RCV001045480 |
333 | T>N | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295577 rs564822118 CA2452068 |
335 | G>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000651929 CA353221259 rs1434557148 |
346 | I>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553668944 RCV001060914 CA353221274 |
347 | N>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs33911937 VAR_035347 CA2452073 RCV001081059 RCV000506287 |
348 | N>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs782444193 CA2452076 RCV001238570 |
351 | F>V | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782601434 RCV000815675 CA2452077 |
354 | V>I | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000796431 CA353221356 rs782601434 |
354 | V>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2452079 COSM3357733 rs369078144 COSM3357734 RCV000651931 |
361 | G>R | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP |
|
rs1010140622 RCV001324360 CA74814275 |
395 | M>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001071105 CA2452111 rs782150167 |
404 | A>G | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803050 rs150331740 COSM480477 COSM480476 CA2452113 RCV000998091 |
405 | A>T | kidney Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA353222016 RCV001205915 rs1553669078 |
411 | T>A | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001042162 rs35181307 CA2452117 |
415 | C>Y | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048964 CA353222307 rs1190070838 |
432 | G>R | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA353222360 rs1439886101 RCV001205418 |
436 | M>L | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs141979341 CA2452144 RCV001222114 |
448 | Y>N | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000811737 rs1575542392 CA353222491 |
449 | R>C | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857837 RCV003165675 RCV000239035 CA10585980 rs879255393 |
483 | R>Q | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_046009 RCV000981690 CA2452199 rs35891605 |
483 | R>W | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065493 rs1703807403 |
484 | D>N | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144965 rs606231296 CA171032 |
510 | G>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001242877 rs1703824527 |
546 | S>F | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1703825504 RCV001062972 |
551 | D>G | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA353223975 rs1575544853 RCV001214321 |
558 | E>K | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146289210 RCV000791738 CA2452253 |
564 | T>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM95072 RCV000813676 CA2452255 rs141992569 |
569 | R>C | lung Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2452257 rs138712106 RCV001343631 |
569 | R>H | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2452260 rs782371398 RCV001068763 |
576 | K>E | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915942974 RCV000817708 rs1575545467 |
594 | T>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA353224320 rs1352945164 RCV001215341 |
595 | G>E | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001299568 rs1703861977 |
601 | P>A | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1703863535 RCV001233165 |
608 | W>R | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs606231297 CA171034 RCV003105796 RCV000144966 |
614 | R>W | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs74838104 RCV001091095 RCV001246338 CA2452301 RCV002554825 |
615 | R>M | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2452325 RCV001216406 rs778015441 |
643 | R>C | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2452332 RCV001048870 rs781914241 |
653 | D>N | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000651932 CA2452335 rs149202171 |
661 | A>T | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343179 rs148364495 CA2452338 |
668 | P>S | Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2451619 rs781958692 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353232135 rs1235740215 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353232133 rs1235740215 |
3 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs76625562 CA74847519 |
3 | P>S | No |
ClinGen Ensembl |
|
|
CA2451620 rs782095341 |
4 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353232141 rs1293104744 |
4 | F>L | No |
ClinGen TOPMed |
|
|
CA2451621 rs527932132 |
7 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353232190 rs368029897 |
8 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782810196 CA2451624 |
9 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74847548 rs901852156 |
10 | N>Y | No |
ClinGen Ensembl |
|
|
rs781788859 CA2451625 |
12 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353232241 rs1553666398 |
12 | Y>H | No |
ClinGen gnomAD |
|
|
CA353232265 rs1394601491 |
13 | E>D | No |
ClinGen TOPMed |
|
|
rs1553666405 CA353232349 |
20 | E>G | No |
ClinGen gnomAD |
|
|
CA2451629 rs782488734 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1553666410 CA353232364 |
21 | D>G | No |
ClinGen gnomAD |
|
|
rs1553666417 CA353232374 |
22 | E>K | No |
ClinGen gnomAD |
|
|
rs782302325 CA2451631 |
23 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451634 rs782209905 |
24 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451636 rs781984752 |
32 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA353232518 rs1553666439 |
35 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1047240 CA74847655 COSM1047239 rs782070830 |
35 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs782400893 CA2451638 |
37 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1215604991 CA353232538 |
38 | T>A | No |
ClinGen TOPMed |
|
|
CA74848401 rs771826283 |
40 | R>C | No |
ClinGen TOPMed |
|
|
CA2451694 rs376358631 |
40 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353233029 rs1333103663 |
43 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs79959723 CA74848402 |
46 | Q>R | No |
ClinGen Ensembl |
|
|
CA353233052 rs1553666756 |
47 | K>R | No |
ClinGen gnomAD |
|
|
CA74848403 rs1053431163 |
49 | P>L | No |
ClinGen Ensembl |
|
|
CA353233080 RCV000762118 rs1165650015 |
51 | M>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA353233077 rs1398084548 |
51 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782360444 CA2451695 |
52 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353233132 rs1553666790 COSM1222025 COSM1222026 |
58 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1559623177 CA353233141 |
60 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 61 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187118011 CA353233156 |
62 | H>D | No |
ClinGen TOPMed |
|
|
rs1438592483 CA353233164 |
63 | I>V | No |
ClinGen TOPMed |
|
|
CA353233185 rs1196790794 |
65 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353233189 rs1575533881 |
66 | G>E | No |
ClinGen Ensembl |
|
|
rs1559623218 CA353233188 |
66 | G>W | No |
ClinGen Ensembl |
|
|
CA353233194 COSM35412 COSM1424610 rs1317887288 |
67 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs112659981 CA74848456 |
69 | I>T | No |
ClinGen Ensembl |
|
|
CA2451704 rs782095882 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553666821 CA353233225 |
72 | V>A | No |
ClinGen gnomAD |
|
|
CA353233238 rs1553666824 |
74 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782808010 CA2451708 |
75 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353233241 rs1328750300 |
75 | R>W | No |
ClinGen TOPMed |
|
|
rs1553666837 CA353233250 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs782480211 CA2451710 |
78 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA353233300 rs1327842167 |
84 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353233298 rs1327842167 |
84 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1158923367 CA353233309 |
85 | T>I | No |
ClinGen TOPMed |
|
|
rs782581303 CA2451717 |
89 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353233336 rs1575534032 |
90 | V>G | No |
ClinGen Ensembl |
|
|
CA74848493 rs79725471 |
91 | L>V | No |
ClinGen TOPMed |
|
|
CA353233346 rs1553666859 |
92 | A>V | No |
ClinGen gnomAD |
|
|
COSM3824370 COSM3824369 CA2451720 rs781980599 |
93 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA353233355 rs963574725 |
94 | R>G | No |
ClinGen TOPMed |
|
|
CA2451721 rs782250947 |
94 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA74848499 rs963574725 |
94 | R>S | No |
ClinGen TOPMed |
|
|
CA353233371 rs1238886300 |
96 | K>R | No |
ClinGen TOPMed |
|
|
CA2451722 rs782413622 |
98 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2451723 rs782031827 |
99 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2451726 rs781979810 |
101 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1575534111 CA353233425 |
104 | F>V | No |
ClinGen Ensembl |
|
|
CA353233753 rs1553667385 |
111 | Q>* | No |
ClinGen gnomAD |
|
|
CA353233752 rs1553667385 |
111 | Q>E | No |
ClinGen gnomAD |
|
|
CA353233759 rs1553667389 |
112 | A>T | No |
ClinGen gnomAD |
|
|
CA353233778 rs1575535582 |
114 | V>G | No |
ClinGen Ensembl |
|
|
rs374573652 CA2451759 |
116 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353233815 rs1553667396 |
120 | Y>H | No |
ClinGen gnomAD |
|
|
rs377558890 CA353233822 |
121 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377558890 CA2451761 |
121 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353233842 rs1553667401 |
124 | D>N | No |
ClinGen gnomAD |
|
|
rs376476959 CA74849248 |
125 | V>A | No |
ClinGen Ensembl |
|
|
rs1553667410 CA353233854 |
126 | D>N | No |
ClinGen gnomAD |
|
|
CA353233882 rs1553667483 |
128 | K>Q | No |
ClinGen gnomAD |
|
|
CA2451786 rs79252610 |
130 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559624701 CA353233908 |
131 | M>I | No |
ClinGen Ensembl |
|
|
rs1553667498 CA353233906 |
131 | M>T | No |
ClinGen gnomAD |
|
|
CA2451787 rs782667867 |
131 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451788 rs375221270 |
132 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2451790 rs200939049 |
132 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353233919 rs1553667505 |
133 | S>I | No |
ClinGen gnomAD |
|
|
CA353233950 rs1553667509 |
137 | A>G | No |
ClinGen gnomAD |
|
|
CA2451792 rs782626105 |
138 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451794 rs782258819 |
141 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1575535925 CA353234025 |
143 | N>T | No |
ClinGen Ensembl |
|
|
rs1553667513 CA353234023 |
143 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353234095 rs1553667519 |
148 | I>M | No |
ClinGen gnomAD |
|
|
rs1559624784 CA353234084 |
148 | I>V | No |
ClinGen Ensembl |
|
|
CA74849505 rs74793932 |
149 | K>R | No |
ClinGen Ensembl |
|
|
rs782177797 CA2451797 |
150 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1553667524 CA353234137 |
151 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914087563 CA74849524 |
158 | N>S | No |
ClinGen gnomAD |
|
|
CA353234302 COSM1670268 rs1553667534 COSM1670267 |
163 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA74849533 rs748035088 |
165 | F>L | No |
ClinGen Ensembl |
|
|
rs1575536025 CA353234503 |
177 | D>A | No |
ClinGen Ensembl |
|
|
CA353234533 rs1553667552 |
179 | V>A | No |
ClinGen gnomAD |
|
|
rs1553667592 CA353234617 |
182 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353234685 rs1201489693 |
187 | Y>C | No |
ClinGen TOPMed |
|
|
CA2451826 rs782555227 |
189 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553668112 CA353219729 |
194 | A>V | No |
ClinGen gnomAD |
|
|
CA353219781 rs149165175 |
202 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353219809 rs782677594 |
205 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451898 rs782179344 |
209 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252661978 CA353219843 |
211 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2451900 rs375512516 |
212 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2451903 rs782006683 |
215 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2451904 rs782269447 |
216 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1553668166 CA353219895 |
219 | I>M | No |
ClinGen gnomAD |
|
|
CA353219912 rs1383241371 |
220 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353219938 rs1575538353 |
223 | E>D | No |
ClinGen Ensembl |
|
|
rs782139721 CA2451936 |
224 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553668239 CA353219942 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 226 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2451937 rs782800469 |
226 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782588098 CA2451940 |
228 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782588098 CA353219968 |
228 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781816076 CA2451941 |
229 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA353219987 rs1178121978 COSM1237297 COSM1237296 |
230 | P>L | Variant assessed as Somatic; impact. parathyroid [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1553668242 CA353219984 |
230 | P>T | No |
ClinGen gnomAD |
|
|
CA353219998 rs1193871271 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs782261953 CA2451944 |
232 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2451945 rs140841846 |
234 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353220016 rs782573482 |
235 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA353220067 rs1575538464 |
242 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 244 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353220100 rs1575538487 |
246 | H>P | No |
ClinGen Ensembl |
|
|
CA353220123 rs1221153452 |
249 | S>T | No |
ClinGen TOPMed |
|
|
CA353220126 rs1553668271 |
250 | L>M | No |
ClinGen gnomAD |
|
|
CA74812639 rs1056031955 |
259 | L>S | No |
ClinGen gnomAD |
|
|
rs916124567 CA74812640 |
260 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1396813634 CA353220297 |
263 | D>G | No |
ClinGen TOPMed |
|
|
rs373245386 CA2451979 |
265 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414201958 CA353220337 |
266 | M>I | No |
ClinGen TOPMed |
|
|
CA353220327 rs1311147786 |
266 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1559628064 CA353220355 |
268 | V>M | No |
ClinGen Ensembl |
|
|
CA2451981 rs377512214 |
273 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2451980 rs781826732 |
273 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1553668639 CA353220608 |
274 | E>K | No |
ClinGen gnomAD |
|
|
CA353220640 rs1372857503 |
278 | N>S | No |
ClinGen TOPMed |
|
|
rs781877260 CA2451983 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782180691 CA2451986 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553668658 CA353220735 |
292 | N>D | No |
ClinGen gnomAD |
|
|
CA2451987 rs782446907 |
294 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353220750 rs782446907 |
294 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782243565 CA353220781 |
297 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782027610 CA2452014 |
300 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782317678 CA2452016 |
304 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782756777 CA2452019 |
306 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA74813798 rs773144753 |
310 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs773144753 CA353220858 |
310 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553668829 CA353220895 |
315 | G>V | No |
ClinGen gnomAD |
|
|
CA353220903 rs138049008 |
316 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868932219 CA353220918 |
318 | K>N | No |
ClinGen gnomAD |
|
|
CA353220936 rs1402503976 |
321 | G>E | No |
ClinGen TOPMed |
|
|
CA353220939 rs1406480197 |
322 | V>I | No |
ClinGen TOPMed |
|
|
rs1177132483 CA353221015 |
327 | M>I | No |
ClinGen TOPMed |
|
|
rs900655326 CA74813849 |
327 | M>T | No |
ClinGen Ensembl |
|
|
rs373073065 CA74814037 |
329 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2452063 rs781987717 |
329 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553668849 CA353221030 |
329 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2452064 rs782129463 |
330 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74814061 rs377377410 |
332 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs34297342 CA74814073 |
334 | Y>C | No |
ClinGen Ensembl |
|
|
CA2452069 rs781828807 |
337 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553668939 CA353221239 |
344 | C>G | No |
ClinGen gnomAD |
|
|
CA2452070 rs782483971 |
344 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs782756704 CA2452071 |
345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2452072 rs781863768 |
347 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA353221277 rs1553668947 |
347 | N>K | No |
ClinGen gnomAD |
|
|
rs59688439 CA74814092 |
348 | N>K | No |
ClinGen Ensembl |
|
|
rs782177317 CA2452075 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553668957 CA353221447 |
362 | K>N | No |
ClinGen gnomAD |
|
|
rs538452225 CA2452099 |
368 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353221585 rs1553669011 |
370 | G>D | No |
ClinGen gnomAD |
|
|
rs2230494 CA74814235 |
373 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353221622 rs1214534580 |
373 | E>G | No |
ClinGen TOPMed |
|
|
CA2452100 rs782345985 |
373 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
VAR_006175 rs1056998 |
375 | F>S | No |
UniProt dbSNP |
|
|
CA74814237 rs1003630344 |
375 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353221662 rs1244102399 |
377 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553669031 CA353221731 |
383 | D>E | No |
ClinGen gnomAD |
|
|
CA353221722 rs1553669028 |
383 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782384878 CA2452104 |
387 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2452105 rs782161141 |
388 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391783355 CA353221855 |
394 | T>I | No |
ClinGen TOPMed |
|
|
rs1553669052 CA353221896 |
398 | K>N | No |
ClinGen gnomAD |
|
|
COSM1424618 CA2452110 rs781872957 COSM1424617 |
399 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782236812 CA74814281 |
399 | R>W | No |
ClinGen Ensembl |
|
|
CA353221913 rs1575541807 |
400 | V>G | No |
ClinGen Ensembl |
|
|
CA353221949 rs782150167 |
404 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs150331740 CA353221953 |
405 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782458396 CA2452114 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353221959 rs1553669067 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353221987 rs782607698 |
408 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2452115 rs782607698 |
408 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74814340 VAR_035348 rs34502209 |
410 | L>F | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA2452116 rs34502209 |
410 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553669078 CA353222015 |
411 | T>P | No |
ClinGen gnomAD |
|
|
rs1553669079 CA353222028 |
412 | H>Y | No |
ClinGen gnomAD |
|
|
CA353222066 rs1575541914 |
416 | T>P | No |
ClinGen Ensembl |
|
|
CA353222197 rs1168784889 |
422 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1553669183 CA353222190 |
422 | H>Y | No |
ClinGen gnomAD |
|
|
rs372295257 CA74814577 |
426 | V>E | No |
ClinGen ESP |
|
|
CA353222239 rs1553669186 |
426 | V>M | No |
ClinGen gnomAD |
|
|
rs781945047 CA74814578 |
428 | E>D | No |
ClinGen Ensembl |
|
|
CA2452135 rs782521690 |
430 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1477567912 CA353222299 |
431 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353222310 rs1190070838 |
432 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs782596735 CA2452140 |
434 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1559629912 | 434 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353222367 rs1553669215 |
436 | M>I | No |
ClinGen gnomAD |
|
|
CA353222390 rs1553669217 |
438 | H>R | No |
ClinGen gnomAD |
|
|
CA353222409 rs868953287 |
440 | Q>* | No |
ClinGen Ensembl |
|
|
CA353222428 rs1553669224 |
442 | K>E | No |
ClinGen gnomAD |
|
|
CA2452141 rs372673092 |
444 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2452142 COSM1047257 COSM1047258 rs782504487 |
444 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1575542371 CA353222462 |
445 | F>Y | No |
ClinGen Ensembl |
|
|
rs782310444 CA2452145 |
449 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2452146 rs782310444 |
449 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782219896 CA2452147 |
451 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16042539 rs1057518393 RCV000413423 |
454 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782288849 CA2452169 |
455 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782660507 CA2452168 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782302678 CA2452170 |
458 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA353222760 rs1559630557 |
458 | M>V | No |
ClinGen Ensembl |
|
|
rs781934889 CA2452171 |
459 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553669478 CA353222775 |
459 | C>Y | No |
ClinGen gnomAD |
|
|
CA353222800 rs1553669486 |
462 | Q>* | No |
ClinGen gnomAD |
|
|
rs2306574 CA353223104 |
481 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2452198 rs782099545 |
482 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575544382 CA353223251 |
492 | F>L | No |
ClinGen Ensembl |
|
| VAR_020610 | 494 | M>V | No | UniProt | |
|
rs781785325 CA2452203 |
497 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2452201 rs782153279 |
497 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2452202 rs782805306 |
497 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173563344 CA353223364 |
499 | I>M | No |
ClinGen TOPMed |
|
|
CA353223368 rs1480099552 |
500 | F>L | No |
ClinGen TOPMed |
|
|
rs782726901 CA2452205 |
501 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1553670052 CA353223412 |
503 | S>G | No |
ClinGen gnomAD |
|
|
CA2452206 rs781836069 |
504 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553670057 CA353223429 |
504 | R>W | No |
ClinGen gnomAD |
|
|
rs1484764769 CA353223454 |
506 | S>G | No |
ClinGen TOPMed |
|
|
COSM1424624 COSM1424623 RCV000722195 rs1559631701 CA353223496 |
509 | C>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA353223515 rs1553670065 |
510 | G>D | No |
ClinGen gnomAD |
|
|
CA353223518 rs1575544486 |
511 | T>P | No |
ClinGen Ensembl |
|
|
CA2452208 rs782657576 |
512 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782273678 CA353223553 |
513 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353223582 rs1553670090 |
517 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 523 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353223634 rs1553670183 |
524 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782794412 CA2452240 |
536 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2452244 rs781840522 |
543 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 549 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781894186 CA2452247 |
549 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459317190 CA353224004 |
560 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353224010 rs782131199 |
561 | R>G | No |
ClinGen gnomAD |
|
|
RCV000998092 rs782458851 CA2452251 |
561 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782458851 CA353224015 |
561 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782131199 CA74815994 |
561 | R>S | No |
ClinGen gnomAD |
|
|
rs1553670216 CA353224086 |
567 | Y>F | No |
ClinGen gnomAD |
|
|
CA2452256 rs141992569 |
569 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381115525 CA353224131 |
571 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1553670226 CA353224161 |
573 | K>R | No |
ClinGen gnomAD |
|
|
CA2452259 rs782099975 |
575 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs782006621 CA2452261 |
576 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782155110 CA2452262 |
577 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2452289 rs781964037 |
582 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA353224274 rs1452060664 |
588 | T>P | No |
ClinGen TOPMed |
|
|
CA353224284 rs1270842088 |
589 | K>R | No |
ClinGen TOPMed |
|
| VAR_006176 | 593 | V>M | No | UniProt | |
|
CA2452292 rs146302697 |
594 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353224317 rs1553670445 |
595 | G>R | No |
ClinGen gnomAD |
|
|
rs1277814719 CA353224324 |
596 | N>H | No |
ClinGen TOPMed |
|
|
CA74816258 rs781873887 |
599 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 599 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2452295 rs781792221 |
601 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs782452542 CA2452296 |
604 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553670462 CA353224389 |
605 | T>A | No |
ClinGen gnomAD |
|
|
CA2452297 rs782747089 |
606 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553670472 CA353224400 |
607 | N>H | No |
ClinGen gnomAD |
|
|
rs1559632821 CA353224416 |
608 | W>* | No |
ClinGen Ensembl |
|
|
CA2452298 rs781857969 |
609 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782525579 CA2452299 |
610 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353224426 rs1553670482 |
611 | L>M | No |
ClinGen gnomAD |
|
|
rs782284458 CA2452300 |
614 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782223641 CA2452303 |
624 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs79000840 CA74816287 |
624 | V>M | No |
ClinGen Ensembl |
|
|
CA2452321 rs782253844 |
628 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2452322 rs782526924 |
635 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 637 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553671049 CA353225414 |
642 | A>V | No |
ClinGen gnomAD |
|
|
CA2452326 rs369041593 |
643 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353225428 rs879958503 |
645 | S>A | No |
ClinGen Ensembl |
|
|
COSM106343 rs142844487 CA74816970 |
645 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1305829710 CA353225447 |
648 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2452330 rs782148014 |
649 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353225463 rs1559634234 |
650 | N>D | No |
ClinGen Ensembl |
|
|
rs1553671069 CA353225471 |
651 | L>V | No |
ClinGen gnomAD |
|
|
CA74816976 rs974024636 |
652 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 653 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969739377 CA74816981 |
653 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 655 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471808870 CA353225508 |
656 | D>A | No |
ClinGen TOPMed |
|
|
rs747189999 CA74816988 |
657 | Q>R | No |
ClinGen Ensembl |
|
|
rs1367808224 CA353225522 |
658 | S>C | No |
ClinGen TOPMed |
|
|
rs782059592 CA2452333 |
659 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1203311553 CA353225542 |
662 | G>S | No |
ClinGen TOPMed |
|
|
CA2452336 rs782124352 |
665 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs782557014 CA2452339 |
668 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2452340 rs782571548 |
669 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553671104 CA353225595 |
670 | F>L | No |
ClinGen gnomAD |
|
|
CA2452342 rs782481552 |
671 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2452343 rs782624317 |
672 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353225618 rs1553671112 |
673 | L>F | No |
ClinGen gnomAD |
|
|
rs1229506570 CA353225623 |
674 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2452344 rs782256859 |
675 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1352738082 CA353225630 |
675 | E>G | No |
ClinGen TOPMed |
No associated diseases with Q05655
11 regional properties for Q05655
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Actinin-type actin-binding domain, conserved site | 43 - 52 | IPR001589-1 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 117 - 141 | IPR001589-2 |
| domain | Calponin homology domain | 41 - 145 | IPR001715-1 |
| domain | Calponin homology domain | 154 - 260 | IPR001715-2 |
| repeat | Spectrin repeat | 285 - 393 | IPR002017-1 |
| repeat | Spectrin repeat | 404 - 508 | IPR002017-2 |
| repeat | Spectrin repeat | 520 - 630 | IPR002017-3 |
| repeat | Spectrin repeat | 641 - 742 | IPR002017-4 |
| domain | EF-hand domain | 756 - 827 | IPR002048 |
| domain | EF-hand, Ca insensitive | 827 - 893 | IPR014837 |
| repeat | Spectrin/alpha-actinin | 405 - 632 | IPR018159 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endolysosome | An transient hybrid organelle formed by fusion of a late endosome with a lysosome, and in which active degradation takes place. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diacylglycerol-dependent serine/threonine kinase activity | Catalysis of the reaction |
| diacylglycerol-dependent, calcium-independent serine/threonine kinase activity | Catalysis of the reaction |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| insulin receptor substrate binding | Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex. |
| metal ion binding | Binding to a metal ion. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
46 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| B cell proliferation | The expansion of a B cell population by cell division. Follows B cell activation. |
| cell chemotaxis | The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cellular response to angiotensin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen. |
| cellular response to hydrogen peroxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| cellular response to hydroperoxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroperoxide stimulus. Hydroperoxides are monosubstitution products of hydrogen peroxide, HOOH. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| cellular senescence | A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| DNA damage response | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
| immunoglobulin mediated immune response | An immune response mediated by immunoglobulins, whether cell-bound or in solution. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| intrinsic apoptotic signaling pathway in response to oxidative stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered. |
| negative regulation of actin filament polymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization. |
| negative regulation of filopodium assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| negative regulation of glial cell apoptotic process | Any process that stops, prevents, or reduces the frequency, rate, or extent of glial cell apoptotic process. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
| negative regulation of MAP kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity. |
| negative regulation of peptidyl-tyrosine phosphorylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| negative regulation of platelet aggregation | Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| neutrophil activation | The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. |
| positive regulation of ceramide biosynthetic process | Any process that activates or increases the frequency, rate or extent of ceramide biosynthetic process. |
| positive regulation of endodeoxyribonuclease activity | Any process that activates or increases the frequency, rate or extent of endodeoxyribonuclease activity, the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks. |
| positive regulation of glucosylceramide catabolic process | Any process that activates or increases the frequency, rate or extent of glucosylceramide catabolic process. |
| positive regulation of phospholipid scramblase activity | Any process that activates or increases the frequency, rate or extent of phospholipid scramblase activity. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| positive regulation of sphingomyelin catabolic process | Any process that activates or increases the frequency, rate or extent of sphingomyelin catabolic process. |
| positive regulation of superoxide anion generation | Any process that activates or increases the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
| post-translational protein modification | The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of ceramide biosynthetic process | Any process that modulates the frequency, rate or extent of a ceramide biosynthetic process. |
| regulation of mRNA stability | Any process that modulates the propensity of mRNA molecules to degradation. Includes processes that both stabilize and destabilize mRNAs. |
| regulation of signaling receptor activity | Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| termination of signal transduction | The signaling process in which signal transduction is brought to an end rather than being reversibly modulated. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P24583 | PKC1 | Protein kinase C-like 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| A1A4I4 | PKN1 | Serine/threonine-protein kinase N1 | Bos taurus (Bovine) | SS |
| A1Z7T0 | Pkn | Serine/threonine-protein kinase N | Drosophila melanogaster (Fruit fly) | SS |
| P83099 | Pkcdelta | Putative protein kinase C delta type homolog | Drosophila melanogaster (Fruit fly) | PR |
| Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
| O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
| Q05513 | PRKCZ | Protein kinase C zeta type | Homo sapiens (Human) | SS |
| P41743 | PRKCI | Protein kinase C iota type | Homo sapiens (Human) | EV |
| Q16512 | PKN1 | Serine/threonine-protein kinase N1 | Homo sapiens (Human) | EV |
| Q6P5Z2 | PKN3 | Serine/threonine-protein kinase N3 | Homo sapiens (Human) | SS |
| Q16513 | PKN2 | Serine/threonine-protein kinase N2 | Homo sapiens (Human) | EV |
| P24723 | PRKCH | Protein kinase C eta type | Homo sapiens (Human) | SS |
| Q02156 | PRKCE | Protein kinase C epsilon type | Homo sapiens (Human) | SS |
| Q04759 | PRKCQ | Protein kinase C theta type | Homo sapiens (Human) | PR |
| P17252 | PRKCA | Protein kinase C alpha type | Homo sapiens (Human) | EV |
| P05129 | PRKCG | Protein kinase C gamma type | Homo sapiens (Human) | SS |
| P05771 | PRKCB | Protein kinase C beta type | Homo sapiens (Human) | SS |
| P31751 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens (Human) | EV SS |
| P31749 | AKT1 | RAC-alpha serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| Q9Y243 | AKT3 | RAC-gamma serine/threonine-protein kinase | Homo sapiens (Human) | SS |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
| O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
| Q15208 | STK38 | Serine/threonine-protein kinase 38 | Homo sapiens (Human) | EV |
| Q9Y2H1 | STK38L | Serine/threonine-protein kinase 38-like | Homo sapiens (Human) | EV |
| Q6A1A2 | PDPK2P | Putative 3-phosphoinositide-dependent protein kinase 2 | Homo sapiens (Human) | PR |
| P70268 | Pkn1 | Serine/threonine-protein kinase N1 | Mus musculus (Mouse) | SS |
| P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
| Q02111 | Prkcq | Protein kinase C theta type | Mus musculus (Mouse) | PR |
| Q8BWW9 | Pkn2 | Serine/threonine-protein kinase N2 | Mus musculus (Mouse) | SS |
| Q8K045 | Pkn3 | Serine/threonine-protein kinase N3 | Mus musculus (Mouse) | SS |
| P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
| P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
| Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
| Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
| P09216 | Prkce | Protein kinase C epsilon type | Rattus norvegicus (Rat) | PR |
| O08874 | Pkn2 | Serine/threonine-protein kinase N2 | Rattus norvegicus (Rat) | SS |
| P09215 | Prkcd | Protein kinase C delta type | Rattus norvegicus (Rat) | PR |
| P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
| Q9SUA3 | D6PKL1 | Serine/threonine-protein kinase D6PKL1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A7MBL8 | pkn2 | Serine/threonine-protein kinase N2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPFLRIAFN | SYELGSLQAE | DEANQPFCAV | KMKEALSTER | GKTLVQKKPT | MYPEWKSTFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AHIYEGRVIQ | IVLMRAAEEP | VSEVTVGVSV | LAERCKKNNG | KAEFWLDLQP | QAKVLMSVQY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLEDVDCKQS | MRSEDEAKFP | TMNRRGAIKQ | AKIHYIKNHE | FIATFFGQPT | FCSVCKDFVW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLNKQGYKCR | QCNAAIHKKC | IDKIIGRCTG | TAANSRDTIF | QKERFNIDMP | HRFKVHNYMS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PTFCDHCGSL | LWGLVKQGLK | CEDCGMNVHH | KCREKVANLC | GINQKLLAEA | LNQVTQRASR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RSDSASSEPV | GIYQGFEKKT | GVAGEDMQDN | SGTYGKIWEG | SSKCNINNFI | FHKVLGKGSF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GKVLLGELKG | RGEYFAIKAL | KKDVVLIDDD | VECTMVEKRV | LTLAAENPFL | THLICTFQTK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DHLFFVMEFL | NGGDLMYHIQ | DKGRFELYRA | TFYAAEIMCG | LQFLHSKGII | YRDLKLDNVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDRDGHIKIA | DFGMCKENIF | GESRASTFCG | TPDYIAPEIL | QGLKYTFSVD | WWSFGVLLYE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MLIGQSPFHG | DDEDELFESI | RVDTPHYPRW | ITKESKDILE | KLFEREPTKR | LGVTGNIKIH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PFFKTINWTL | LEKRRLEPPF | RPKVKSPRDY | SNFDQEFLNE | KARLSYSDKN | LIDSMDQSAF |
| 670 | |||||
| AGFSFVNPKF | EHLLED |