Q05513
Gene name |
PRKCZ (PKC2) |
Protein name |
Protein kinase C zeta type |
Names |
EC 2.7.11.13 , nPKC-zeta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5590 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
218-592 (Kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
231-592 (Catalytic domain of the Serine/Threonine Kinase, Atypical Protein Kinase C iota) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
393-416 (Activation loop from InterPro)
Target domain |
236-592 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- 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
- 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
Autoinhibited structure

Activated structure

1 structures for Q05513
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q05513-F1 | Predicted | AlphaFoldDB |
524 variants for Q05513
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1659550841 | 2 | P>S | No | Ensembl | |
rs1659551138 | 3 | S>G | No | Ensembl | |
rs1388573288 | 4 | R>G | No |
TOPMed gnomAD |
|
rs1659551601 | 4 | R>K | No | gnomAD | |
rs1200647693 | 6 | G>S | No | gnomAD | |
rs1659552370 | 7 | P>H | No |
1000Genomes TOPMed |
|
rs1458058025 | 7 | P>S | No |
TOPMed gnomAD |
|
rs1291002844 | 8 | K>Q | No | TOPMed | |
rs1376446734 | 8 | K>R | No |
TOPMed gnomAD |
|
rs1341708723 | 9 | M>T | No | TOPMed | |
rs1313072258 | 9 | M>V | No | TOPMed | |
rs1021891770 | 10 | E>D | No | TOPMed | |
rs1659553572 | 10 | E>G | No |
TOPMed gnomAD |
|
rs1005789155 | 11 | G>E | No |
TOPMed gnomAD |
|
rs1287595315 | 12 | S>R | No |
1000Genomes TOPMed gnomAD |
|
rs1254047550 | 13 | G>A | No |
TOPMed gnomAD |
|
rs1236161858 | 13 | G>C | No |
TOPMed gnomAD |
|
rs1038674966 | 14 | G>S | No |
TOPMed gnomAD |
|
rs899995384 | 15 | R>H | No | TOPMed | |
rs899995384 | 15 | R>P | No | TOPMed | |
rs1659555574 | 16 | V>A | No |
TOPMed gnomAD |
|
rs904415878 | 16 | V>F | No |
TOPMed gnomAD |
|
rs1659555574 | 16 | V>G | No |
TOPMed gnomAD |
|
rs904415878 | 16 | V>I | No |
TOPMed gnomAD |
|
rs904415878 | 16 | V>L | No |
TOPMed gnomAD |
|
rs1659555928 | 17 | R>C | No | Ensembl | |
rs1438912407 | 17 | R>H | No |
1000Genomes TOPMed gnomAD |
|
rs1473211265 | 20 | A>S | No | TOPMed | |
rs1033981248 | 23 | G>A | No |
TOPMed gnomAD |
|
rs1033981248 | 23 | G>E | No |
TOPMed gnomAD |
|
rs1382172183 | 23 | G>R | No |
TOPMed gnomAD |
|
rs1033981248 | 23 | G>V | No |
TOPMed gnomAD |
|
rs1382172183 | 23 | G>W | No |
TOPMed gnomAD |
|
rs959728236 | 24 | G>R | No | Ensembl | |
rs1660077842 | 25 | D>N | No |
TOPMed gnomAD |
|
rs772888599 | 26 | I>M | No |
ExAC gnomAD |
|
rs1660077959 | 26 | I>V | No | Ensembl | |
rs760154314 | 29 | T>I | No |
ExAC TOPMed gnomAD |
|
rs765901754 | 30 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1660078810 | 30 | S>T | No | TOPMed | |
rs755481329 | 31 | V>M | No |
ExAC gnomAD |
|
rs1253777576 | 32 | D>H | No | gnomAD | |
rs1253777576 | 32 | D>N | No | gnomAD | |
rs753087274 | 33 | A>T | No |
ExAC TOPMed gnomAD |
|
rs778012886 | 34 | A>S | No |
ExAC TOPMed gnomAD |
|
rs778012886 | 34 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs377389479 | 35 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
COSM1185269 COSM1185270 rs377389479 |
35 | T>M | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs757345608 | 36 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1483247141 | 38 | E>D | No | TOPMed | |
rs375920005 | 38 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
rs564900644 | 41 | C>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4400337 COSM4400338 |
41 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs564900644 | 41 | C>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs564900644 | 41 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 42 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774389251 | 42 | E>K | No |
ExAC gnomAD |
|
COSM4903375 COSM4903374 |
43 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1660081757 | 45 | R>G | No | TOPMed | |
rs1660081896 | 45 | R>T | No | TOPMed | |
rs1340824330 | 46 | D>H | No | gnomAD | |
rs771971829 | 47 | M>L | No |
ExAC TOPMed gnomAD |
|
rs771971829 | 47 | M>V | No |
ExAC TOPMed gnomAD |
|
rs370842263 | 49 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs370842263 | 49 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
RCV000886312 rs35271800 VAR_050560 |
49 | R>H | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35271800 | 49 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1571079960 | 51 | H>P | No | Ensembl | |
rs1040957975 | 51 | H>Y | No | Ensembl | |
rs902053495 | 53 | Q>R | No |
TOPMed gnomAD |
|
rs1008429177 | 54 | H>Q | No |
TOPMed gnomAD |
|
rs1660083815 | 54 | H>Y | No | gnomAD | |
rs759002098 | 55 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs945617424 | 56 | L>F | No | Ensembl | |
rs1351375256 | 56 | L>P | No |
TOPMed gnomAD |
|
rs1184424351 | 57 | T>I | No | gnomAD | |
rs1425829764 | 57 | T>S | No | gnomAD | |
rs763363045 | 58 | L>I | No |
ExAC gnomAD |
|
TCGA novel | 59 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1369152016 | 59 | K>R | No | gnomAD | |
rs1660085406 | 62 | D>G | No | TOPMed | |
rs1170499446 | 63 | S>G | No |
TOPMed gnomAD |
|
rs147145876 | 63 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs140244321 | 64 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs367917640 | 65 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs367917640 | 65 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs773636992 | 67 | P>L | No |
ExAC gnomAD |
|
rs773636992 | 67 | P>R | No |
ExAC gnomAD |
|
rs1660176244 | 68 | C>F | No | Ensembl | |
rs1571084624 | 68 | C>R | No | Ensembl | |
rs569122732 | 69 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs569122732 | 69 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs754975176 | 70 | V>A | No |
ExAC TOPMed gnomAD |
|
rs754975176 | 70 | V>G | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 70 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4893212 COSM4893211 |
71 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1660176951 | 71 | S>Y | No | Ensembl | |
rs1660177360 | 73 | Q>E | No | TOPMed | |
rs1660177670 | 74 | M>I | No |
TOPMed gnomAD |
|
rs764134272 | 74 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1660177856 | 75 | E>G | No | gnomAD | |
rs1225195646 | 77 | E>G | No | gnomAD | |
rs1660178158 COSM3481210 COSM3481211 |
77 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
TCGA novel | 80 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757137459 | 81 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM901888 COSM901889 rs780965673 |
81 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 81 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1490670345 | 84 | R>C | No |
TOPMed gnomAD |
|
COSM1263089 rs56017162 VAR_042310 COSM1263088 |
84 | R>H | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs1660180016 | 85 | Q>R | No |
TOPMed gnomAD |
|
rs966006143 | 86 | C>F | No |
TOPMed gnomAD |
|
rs779639731 | 86 | C>R | No |
ExAC gnomAD |
|
rs966006143 | 86 | C>Y | No |
TOPMed gnomAD |
|
rs768028189 | 87 | R>G | No |
ExAC TOPMed gnomAD |
|
rs1162132538 | 88 | D>A | No | gnomAD | |
rs12184 | 88 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140958949 | 89 | E>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs140958949 | 89 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs140958949 | 89 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs761074095 | 91 | L>F | No |
ExAC gnomAD |
|
rs1444143188 | 92 | I>M | No | gnomAD | |
rs1368571793 | 92 | I>V | No | gnomAD | |
rs1279881487 | 93 | I>V | No | gnomAD | |
rs200302049 | 96 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1431492301 TCGA novel |
96 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs972252981 | 97 | P>L | No |
TOPMed gnomAD |
|
rs542231895 | 99 | T>N | No | Ensembl | |
rs753602958 | 99 | T>P | No |
ExAC gnomAD |
|
rs542231895 | 99 | T>S | No | Ensembl | |
rs1660482193 | 100 | P>A | No | TOPMed | |
rs1207698696 | 101 | E>D | No | gnomAD | |
rs1281606956 | 102 | Q>H | No | gnomAD | |
TCGA novel | 102 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1423408612 | 103 | P>L | No |
TOPMed gnomAD |
|
rs778580294 | 104 | G>A | No | ExAC | |
COSM3689253 COSM3689254 |
104 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1193199669 | 105 | L>R | No | gnomAD | |
rs199756224 | 106 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1429702172 | 107 | C>S | No | gnomAD | |
rs1557476592 | 107 | C>W | No | Ensembl | |
COSM1686886 rs200172323 COSM1686887 |
108 | P>L | skin [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1660484465 | 109 | G>R | No | TOPMed | |
rs1270378011 | 110 | E>* | No |
TOPMed gnomAD |
|
rs781419399 | 111 | D>A | No |
ExAC gnomAD |
|
rs746191235 | 111 | D>E | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 114 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs760044366 | 114 | I>T | No |
ExAC TOPMed gnomAD |
|
rs144794308 | 114 | I>V | No |
ESP ExAC |
|
rs775950255 | 115 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs765678009 | 115 | Y>C | No |
ExAC gnomAD |
|
rs765678009 | 115 | Y>S | No |
ExAC gnomAD |
|
rs1034849846 | 116 | R>C | No |
TOPMed gnomAD |
|
rs763191925 | 116 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs751714354 | 117 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs201391648 | 117 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1389962521 | 118 | G>R | No | gnomAD | |
rs1486824400 | 120 | R>G | No |
TOPMed gnomAD |
|
rs1675954150 | 120 | R>I | No | gnomAD | |
TCGA novel | 120 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767707651 | 121 | R>K | No |
ExAC TOPMed gnomAD |
|
rs1675954884 | 122 | W>* | No | TOPMed | |
rs750444575 | 122 | W>C | No |
ExAC gnomAD |
|
COSM4027520 COSM4027521 |
123 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1675955842 | 123 | R>T | No | TOPMed | |
TCGA novel | 124 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1163578 COSM1163577 rs75260030 |
126 | Y>D | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs372327351 | 127 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs372327351 | 127 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
COSM1222048 rs748361957 COSM1222049 |
127 | R>H | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs747337134 | 129 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1675959915 | 130 | G>D | No | TOPMed | |
rs1453902078 | 130 | G>S | No |
TOPMed gnomAD |
|
rs1242409778 | 131 | H>Y | No | gnomAD | |
rs990696457 | 134 | Q>* | No |
TOPMed gnomAD |
|
rs1675962407 | 135 | A>T | No | TOPMed | |
rs552948809 | 137 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1241344879 | 137 | R>H | No |
TOPMed gnomAD |
|
rs1447046805 | 139 | N>D | No | gnomAD | |
rs777106756 | 140 | R>G | No |
ExAC TOPMed gnomAD |
|
rs1675964740 | 140 | R>K | No | gnomAD | |
rs1675965207 | 140 | R>S | No | TOPMed | |
rs1675964740 | 140 | R>T | No | gnomAD | |
rs1274666679 | 141 | R>K | No | gnomAD | |
rs1281635383 | 142 | A>T | No | gnomAD | |
COSM1222050 rs143527868 COSM1222051 |
142 | A>V | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1260196625 | 143 | Y>* | No | gnomAD | |
rs1485210594 | 144 | C>F | No |
TOPMed gnomAD |
|
rs1346470067 | 145 | G>C | No |
TOPMed gnomAD |
|
rs1225766752 | 145 | G>D | No |
TOPMed gnomAD |
|
rs1346470067 | 145 | G>S | No |
TOPMed gnomAD |
|
rs781572187 | 148 | S>N | No |
ExAC TOPMed gnomAD |
|
rs201398081 | 148 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1426817851 | 149 | E>D | No | gnomAD | |
rs775001561 | 149 | E>K | No |
ExAC TOPMed gnomAD |
|
rs775001561 | 149 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1434525546 | 150 | R>G | No | gnomAD | |
rs1176232080 | 150 | R>K | No | gnomAD | |
rs1678017540 | 151 | I>L | No | TOPMed | |
rs914328806 | 151 | I>T | No | TOPMed | |
rs1678017540 | 151 | I>V | No | TOPMed | |
rs1362706971 | 152 | W>* | No | gnomAD | |
rs549344478 | 155 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1299974227 | 155 | A>T | No |
TOPMed gnomAD |
|
rs549344478 | 155 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1678020549 | 157 | Q>K | No | Ensembl | |
rs1044471105 | 160 | R>G | No |
TOPMed gnomAD |
|
rs1044471105 | 160 | R>W | No |
TOPMed gnomAD |
|
rs1429018782 | 162 | I>M | No |
TOPMed gnomAD |
|
rs773164270 | 162 | I>V | No |
ExAC gnomAD |
|
rs760632046 | 163 | N>S | No |
ExAC TOPMed gnomAD |
|
rs760632046 | 163 | N>T | No |
ExAC TOPMed gnomAD |
|
rs1678023104 | 164 | C>Y | No | TOPMed | |
rs1366142734 | 168 | V>A | No | TOPMed | |
rs1326344021 | 169 | H>R | No | Ensembl | |
rs1678024651 | 169 | H>Y | No |
TOPMed gnomAD |
|
rs1241214009 | 171 | R>C | No |
TOPMed gnomAD |
|
rs142085528 | 171 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1359310924 | 172 | C>S | No | gnomAD | |
rs1163778397 | 173 | H>Y | No |
TOPMed gnomAD |
|
rs199759954 | 174 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1397800680 | 175 | L>V | No | Ensembl | |
rs756571753 | 176 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1159886945 | 177 | P>L | No |
TOPMed gnomAD |
|
rs971280983 | 179 | T>A | No |
TOPMed gnomAD |
|
rs1454586669 | 180 | C>Y | No |
TOPMed gnomAD |
|
rs1678032952 | 181 | R>G | No | TOPMed | |
rs201836830 | 181 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1678034023 | 182 | K>Q | No | TOPMed | |
rs1678034412 | 184 | M>T | No | TOPMed | |
rs769732052 | 187 | V>I | No |
ExAC gnomAD |
|
rs775475925 | 188 | M>L | No |
ExAC gnomAD |
|
rs1238703529 | 188 | M>T | No | gnomAD | |
COSM6060832 COSM6060833 COSM532130 COSM532131 rs775475925 |
188 | M>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs773393631 | 190 | S>P | No |
ExAC gnomAD |
|
rs760989555 | 191 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs201228856 | 193 | P>A | No |
1000Genomes ExAC gnomAD |
|
rs1278482321 | 193 | P>L | No | gnomAD | |
rs1557673276 | 195 | V>A | No | Ensembl | |
rs755373605 | 197 | D>H | No |
ExAC TOPMed gnomAD |
|
rs755373605 | 197 | D>N | No |
ExAC TOPMed gnomAD |
|
rs765833919 | 198 | K>E | No |
ExAC gnomAD |
|
rs1260867523 | 200 | E>K | No |
TOPMed gnomAD |
|
rs746599040 | 202 | A>G | No |
ExAC gnomAD |
|
rs375723346 | 202 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146487943 | 203 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1425953718 | 204 | L>P | No | gnomAD | |
rs780788418 | 205 | P>S | No |
1000Genomes ExAC gnomAD |
|
rs1157571590 | 206 | S>P | No | gnomAD | |
rs369412526 | 206 | S>Y | No | ESP | |
COSM1560303 rs745674432 COSM1560302 |
207 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1344539504 | 211 | G>E | No |
TOPMed gnomAD |
|
rs971419594 | 212 | I>L | No | TOPMed | |
rs766979028 | 214 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs766979028 | 214 | Y>S | No |
ExAC TOPMed gnomAD |
|
rs755787591 | 215 | I>T | No |
ExAC gnomAD |
|
rs1401846483 | 215 | I>V | No | gnomAD | |
rs1679279727 | 216 | S>C | No | TOPMed | |
rs371023344 | 218 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
rs371023344 | 218 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
rs371023344 | 218 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs753636085 | 219 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1338585988 | 219 | R>W | No |
TOPMed gnomAD |
|
rs1284558321 | 220 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs754834225 | 221 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1679283765 | 223 | S>N | No | TOPMed | |
rs373563650 | 224 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1012744246 | 224 | I>V | No | TOPMed | |
rs376968073 | 226 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs146591213 COSM3482796 COSM3482795 |
228 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
rs1162890348 | 228 | S>P | No | gnomAD | |
rs1233996294 | 231 | L>V | No | gnomAD | |
rs1679745552 | 234 | V>I | No | TOPMed | |
rs1224443289 | 235 | I>V | No |
TOPMed gnomAD |
|
rs1219312647 | 236 | D>H | No | gnomAD | |
rs1219312647 | 236 | D>N | No | gnomAD | |
rs1679747898 | 238 | M>I | No | gnomAD | |
rs1679748352 | 239 | D>E | No | gnomAD | |
rs1490269824 | 240 | G>A | No | gnomAD | |
rs765921805 | 241 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2103221187 | 243 | I>N | No | Ensembl | |
rs751277949 | 243 | I>SL* | No | ExAC | |
rs1268373445 | 247 | L>F | No |
TOPMed gnomAD |
|
rs1679751745 | 247 | L>H | No | Ensembl | |
rs1242064289 | 248 | G>E | No |
TOPMed gnomAD |
|
rs765030314 | 248 | G>R | No |
ExAC gnomAD |
|
rs1557685445 | 253 | D>N | No | Ensembl | |
rs1679756362 | 256 | R>S | No |
TOPMed gnomAD |
|
rs1457165982 | 257 | V>I | No | gnomAD | |
RCV000678320 rs887317345 COSM117549 |
260 | R>C | ovary endometrium [Cosmic] | No |
cosmic curated ClinVar Ensembl dbSNP |
COSM35746 rs1679758480 COSM4393417 |
260 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs2103221867 | 264 | A>D | No | Ensembl | |
rs1162392785 | 266 | V>L | No | TOPMed | |
rs1308597486 | 267 | L>F | No |
TOPMed gnomAD |
|
TCGA novel | 268 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1679761981 | 269 | V>A | No | TOPMed | |
COSM6123912 COSM6123911 |
272 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1359207460 | 272 | K>R | No | gnomAD | |
rs1679764067 | 274 | N>Y | No |
TOPMed gnomAD |
|
rs755171004 | 275 | D>N | No |
ExAC gnomAD |
|
rs992127534 | 277 | I>M | No |
TOPMed gnomAD |
|
rs200304104 | 277 | I>V | No | 1000Genomes | |
rs1557685738 | 278 | Y>C | No | Ensembl | |
rs1180442765 | 279 | A>T | No | gnomAD | |
rs374385799 | 280 | M>V | No |
ESP gnomAD |
|
rs2103222472 | 281 | K>R | No | Ensembl | |
rs1186953168 | 288 | V>A | No |
TOPMed gnomAD |
|
rs201824485 | 288 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1360304030 | 289 | H>R | No |
TOPMed gnomAD |
|
rs899816719 | 289 | H>Y | No | gnomAD | |
rs1351886316 | 290 | D>N | No |
TOPMed gnomAD |
|
TCGA novel rs1398219406 |
292 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1398219406 | 292 | E>Q | No | gnomAD | |
rs1680969080 | 294 | I>T | No | TOPMed | |
TCGA novel | 296 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs202071893 | 300 | E>G | No | 1000Genomes | |
rs757681995 | 301 | K>R | No |
ExAC gnomAD |
|
rs1297391988 | 302 | H>D | No |
TOPMed gnomAD |
|
COSM1222052 COSM1222053 rs746430532 |
303 | V>M | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs769149864 | 305 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1680974781 | 306 | Q>L | No | Ensembl | |
rs1275955741 | 307 | A>T | No | gnomAD | |
TCGA novel | 309 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 309 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs966616535 | 310 | N>S | No | TOPMed | |
rs200606709 | 315 | G>* | No |
1000Genomes ExAC gnomAD |
|
rs200606709 | 315 | G>R | No |
1000Genomes ExAC gnomAD |
|
rs748837545 | 317 | H>Y | No |
ExAC gnomAD |
|
rs1227964893 | 318 | S>A | No |
TOPMed gnomAD |
|
rs1203458367 | 318 | S>Y | No |
TOPMed gnomAD |
|
rs1680980635 | 319 | C>Y | No |
TOPMed gnomAD |
|
rs1680981080 | 322 | T>M | No |
TOPMed gnomAD |
|
rs774214937 | 323 | T>R | No |
ExAC gnomAD |
|
rs1481191698 | 324 | S>N | No | TOPMed | |
rs1192959116 | 325 | R>Q | No | gnomAD | |
rs1680983712 | 325 | R>W | No | Ensembl | |
rs1684006639 | 329 | V>I | No |
TOPMed gnomAD |
|
rs1557728804 | 330 | I>T | No | Ensembl | |
rs1246209822 | 330 | I>V | No | gnomAD | |
rs1684007722 | 331 | E>K | No | Ensembl | |
rs886151696 | 333 | V>I | No |
TOPMed gnomAD |
|
rs757043168 | 334 | N>S | No |
ExAC gnomAD |
|
rs2100258167 | 335 | G>D | No | Ensembl | |
rs1439516416 | 335 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1405416528 | 336 | G>R | No | gnomAD | |
rs1035527133 | 337 | D>G | No | Ensembl | |
TCGA novel | 337 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1355056784 | 344 | R>K | No |
TOPMed gnomAD |
|
rs994950208 | 346 | R>K | No | Ensembl | |
rs1402089714 | 346 | R>S | No |
TOPMed gnomAD |
|
rs1684013694 | 347 | K>N | No | gnomAD | |
rs1318504555 | 347 | K>R | No | gnomAD | |
rs769731981 | 349 | P>S | No |
ExAC gnomAD |
|
rs769731981 | 349 | P>T | No |
ExAC gnomAD |
|
rs1230358476 | 351 | E>D | No | TOPMed | |
rs1684015349 | 351 | E>K | No | TOPMed | |
rs1239226361 | 353 | A>D | No | gnomAD | |
COSM3934450 COSM3934449 rs1371609610 |
353 | A>T | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
TCGA novel | 355 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1684549424 | 356 | Y>F | No | gnomAD | |
rs1416861805 COSM3418700 COSM3418701 |
357 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1294080664 | 357 | A>V | No | gnomAD | |
rs1467925807 | 358 | A>S | No | TOPMed | |
rs1340657203 | 360 | I>F | No | gnomAD | |
rs1278634923 | 364 | L>V | No | gnomAD | |
rs761383225 | 367 | L>V | No |
ExAC TOPMed gnomAD |
|
rs750125138 | 369 | E>K | No |
ExAC TOPMed gnomAD |
|
rs147033679 COSM125591 |
370 | R>K | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs147033679 | 370 | R>M | No |
ESP ExAC TOPMed gnomAD |
|
rs147033679 | 370 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs923558431 | 372 | I>F | No |
TOPMed gnomAD |
|
rs923558431 | 372 | I>V | No |
TOPMed gnomAD |
|
rs975659331 | 374 | Y>* | No |
TOPMed gnomAD |
|
rs1430371400 | 379 | L>Q | No | gnomAD | |
rs753761564 | 382 | V>I | No |
ExAC TOPMed gnomAD |
|
COSM3482972 COSM3482971 |
383 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1684560462 | 384 | L>V | No | TOPMed | |
rs1313760293 | 386 | A>E | No |
TOPMed gnomAD |
|
rs1313760293 | 386 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1327027904 | 389 | H>N | No | gnomAD | |
TCGA novel | 392 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1684563221 | 393 | T>P | No | Ensembl | |
TCGA novel | 396 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757469768 | 396 | G>S | No |
ExAC gnomAD |
|
rs1684564270 | 397 | M>T | No | Ensembl | |
rs574561574 | 398 | C>Y | No |
1000Genomes ExAC gnomAD |
|
rs1684596592 | 401 | G>A | No | TOPMed | |
COSM3803782 COSM3803781 |
401 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375070607 | 402 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1684597339 | 404 | P>L | No | TOPMed | |
rs1214266031 | 405 | G>A | No |
TOPMed gnomAD |
|
COSM4922498 COSM4922499 |
405 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2100333056 | 410 | T>A | No | Ensembl | |
rs1684598600 | 410 | T>N | No | TOPMed | |
rs1684598600 | 410 | T>S | No | TOPMed | |
TCGA novel | 413 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1684599600 | 413 | G>R | No | TOPMed | |
COSM3482976 COSM3482975 |
415 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1684600243 | 418 | I>L | No | TOPMed | |
rs1475002964 | 419 | A>D | No | gnomAD | |
rs867805357 | 420 | P>L | No | Ensembl | |
COSM425224 COSM425225 |
421 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748597750 | 422 | I>V | No |
ExAC gnomAD |
|
rs923255733 | 424 | R>Q | No |
TOPMed gnomAD |
|
rs778317406 | 425 | G>A | No |
ExAC gnomAD |
|
rs1375146891 | 427 | E>K | No | gnomAD | |
rs770522318 | 428 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1157842185 | 431 | S>T | No | gnomAD | |
rs1572002282 | 435 | W>G | No | Ensembl | |
rs1250989629 | 436 | A>T | No | TOPMed | |
rs769490741 | 439 | V>I | No |
ExAC gnomAD |
|
rs1370137352 | 441 | M>V | No | gnomAD | |
rs1684952126 | 443 | E>D | No | Ensembl | |
COSM1295822 COSM1295821 |
443 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775342510 | 445 | M>V | No |
ExAC gnomAD |
|
COSM903412 COSM903411 |
446 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1305361808 | 446 | A>V | No | gnomAD | |
rs774391377 | 447 | G>R | No |
ExAC TOPMed gnomAD |
|
COSM4877395 COSM4877396 |
447 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1011618567 | 448 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs761837545 | 448 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1684955039 | 449 | S>P | No | Ensembl | |
rs9629827 | 451 | F>L | No |
ExAC TOPMed gnomAD |
|
COSM1929521 COSM1929520 rs139990959 |
452 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1267863128 | 452 | D>V | No | Ensembl | |
rs758728096 | 453 | I>T | No |
ExAC gnomAD |
|
rs377184000 | 453 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs981297243 | 455 | T>S | No |
TOPMed gnomAD |
|
TCGA novel | 456 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751961892 | 456 | D>N | No |
ExAC gnomAD |
|
rs780500369 | 458 | P>A | No |
ExAC gnomAD |
|
rs1684960389 TCGA novel |
458 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1684960389 | 458 | P>Q | No | Ensembl | |
rs142352833 | 459 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1684961455 | 459 | D>G | No | TOPMed | |
rs1684961163 | 459 | D>H | No | Ensembl | |
rs139304792 | 460 | M>R | No |
ESP ExAC TOPMed gnomAD |
|
rs139304792 | 460 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs779822929 | 460 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1395797132 | 465 | Y>C | No | gnomAD | |
rs1430123456 | 475 | I>F | No | gnomAD | |
rs754596223 | 476 | R>Q | No |
ExAC gnomAD |
|
rs752329843 | 479 | R>Q | No |
ExAC gnomAD |
|
rs777446399 | 483 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1685123838 | 484 | K>R | No |
TOPMed gnomAD |
|
rs1225903970 | 486 | S>F | No | gnomAD | |
rs1685126193 | 494 | N>K | No | TOPMed | |
TCGA novel | 495 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1572011448 | 496 | D>A | No | Ensembl | |
rs1275182382 | 497 | P>S | No |
TOPMed gnomAD |
|
rs773631000 | 498 | K>R | No |
ExAC gnomAD |
|
rs1572011533 | 502 | G>A | No | Ensembl | |
rs145374413 | 504 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs145374413 | 504 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
COSM4717764 COSM4717765 rs777236443 |
504 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs764742460 | 506 | Q>P | No |
ExAC gnomAD |
|
rs986012868 | 510 | S>C | No |
TOPMed gnomAD |
|
TCGA novel | 511 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs911777803 | 511 | D>V | No | TOPMed | |
rs1387677915 | 512 | I>M | No | gnomAD | |
rs944570466 | 512 | I>V | No |
TOPMed gnomAD |
|
rs368950062 | 513 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
VAR_035467 | 514 | S>F | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
rs142655985 | 516 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs142655985 | 516 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs757007704 | 516 | A>V | No |
ExAC gnomAD |
|
VAR_042311 rs376894109 |
519 | R>C | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No |
UniProt ESP ExAC TOPMed dbSNP gnomAD |
rs1685219598 | 519 | R>H | No | Ensembl | |
rs756011524 | 520 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1685221688 | 522 | D>A | No | gnomAD | |
rs780110330 | 522 | D>H | No |
ExAC gnomAD |
|
rs748167115 | 523 | W>* | No |
ExAC gnomAD |
|
rs1685222027 COSM1584015 COSM903419 |
523 | W>G | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs1685223172 | 524 | D>G | No | TOPMed | |
rs199602921 | 524 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1254295825 | 527 | E>G | No |
TOPMed gnomAD |
|
rs918956967 | 529 | K>E | No | Ensembl | |
rs749035122 | 531 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
TCGA novel | 532 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1201198713 | 533 | P>S | No | Ensembl | |
rs1260431418 | 534 | P>Q | No | gnomAD | |
rs1273076106 | 535 | F>S | No | gnomAD | |
rs1273076106 | 535 | F>Y | No | gnomAD | |
rs1450295037 | 536 | Q>R | No | gnomAD | |
rs760400823 | 538 | Q>H | No |
ExAC gnomAD |
|
rs1478156466 | 540 | T>I | No | gnomAD | |
rs775616525 | 542 | D>E | No |
ExAC TOPMed gnomAD |
|
rs143763676 | 542 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143763676 | 542 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765251717 | 542 | D>V | No |
ExAC gnomAD |
|
rs1687280728 | 543 | Y>H | No | TOPMed | |
rs750555084 | 544 | G>D | No |
ExAC gnomAD |
|
rs1403459055 | 544 | G>S | No | gnomAD | |
COSM678734 COSM678733 |
545 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756365403 | 546 | D>G | No |
ExAC TOPMed gnomAD |
|
rs766577209 | 547 | N>S | No |
ExAC gnomAD |
|
rs1572076588 | 550 | T>R | No | Ensembl | |
rs140890348 | 554 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1687285915 | 555 | E>A | No | Ensembl | |
rs1229062269 | 556 | P>L | No | gnomAD | |
rs1040209932 | 557 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1687288187 | 558 | Q>R | No | gnomAD | |
rs372185607 | 562 | D>E | No |
TOPMed gnomAD |
|
rs1291058926 | 562 | D>N | No | gnomAD | |
TCGA novel | 562 | D>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4832545 COSM4832544 rs901650050 |
563 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1445108003 | 564 | E>G | No |
TOPMed gnomAD |
|
rs757858012 | 564 | E>K | No |
ExAC gnomAD |
|
rs138081046 | 571 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs138081046 | 571 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs144015632 | 576 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs763283232 | 577 | G>D | No |
ExAC gnomAD |
|
rs1687358770 | 580 | Y>C | No |
TOPMed gnomAD |
|
rs1687358770 | 580 | Y>F | No |
TOPMed gnomAD |
|
rs752045689 | 581 | I>M | No |
ExAC gnomAD |
|
rs1687359311 | 581 | I>V | No | Ensembl | |
COSM1338668 COSM1338667 |
582 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756748776 | 583 | P>S | No | ExAC | |
rs774899321 | 587 | S>C | No | Ensembl | |
rs1687361841 | 588 | T>A | No | gnomAD | |
rs750037692 | 588 | T>I | No |
ExAC gnomAD |
|
rs750037692 | 588 | T>N | No |
ExAC gnomAD |
|
rs779910797 | 589 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs749088820 | 591 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1173234530 | 592 | V>M | No | gnomAD |
No associated diseases with Q05513
15 regional properties for Q05513
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | PB1 domain | 15 - 98 | IPR000270 |
domain | Protein kinase domain | 252 - 518 | IPR000719 |
domain | AGC-kinase, C-terminal | 519 - 590 | IPR000961 |
domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 130 - 182 | IPR002219 |
active_site | Serine/threonine-protein kinase, active site | 372 - 384 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 258 - 285 | IPR017441 |
domain | Protein kinase, C-terminal | 540 - 580 | IPR017892 |
domain | Diacylglycerol/phorbol-ester binding | 128 - 142 | IPR020454-1 |
domain | Diacylglycerol/phorbol-ester binding | 144 - 153 | IPR020454-2 |
domain | Diacylglycerol/phorbol-ester binding | 157 - 168 | IPR020454-3 |
domain | Diacylglycerol/phorbol-ester binding | 169 - 181 | IPR020454-4 |
domain | Atypical Protein Kinase C zeta, catalytic domain | 236 - 592 | IPR034662 |
domain | Protein kinase C, PB1 domain | 16 - 98 | IPR034877 |
domain | Protein kinase C zeta type, conserved region 1 | 129 - 183 | IPR047314 |
domain | PB1-like domain | 15 - 98 | IPR053793 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
25 GO annotations of cellular component
Name | Definition |
---|---|
apical cortex | The region that lies just beneath the plasma membrane on the apical edge of a cell. |
apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
axon hillock | Portion of the neuronal cell soma from which the axon originates. |
bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
cell leading edge | The area of a motile cell closest to the direction of movement. |
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. |
endosome | A vacuole to which materials ingested by endocytosis are delivered. |
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. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
myelin sheath abaxonal region | The region of the myelin sheath furthest from the axon. |
nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
PAR polarity complex | A protein kinase complex that is required for the establishment of a cell polarity axis during the cell division cycle. Binds directly to activated CDC42 GTPase and is required for orchestrating a cellular gradient of CDC42. In S. cerevisiae components are |
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. |
postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
tight junction | A cell-cell junction that seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other. |
vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
12 GO annotations of molecular function
Name | Definition |
---|---|
14-3-3 protein binding | Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections |
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 |
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. |
phospholipase binding | Binding to a phospholipase. |
potassium channel regulator activity | Binds to and modulates the activity of a potassium channel. |
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 |
protein-containing complex binding | Binding to a macromolecular complex. |
37 GO annotations of biological process
Name | Definition |
---|---|
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
cellular response to insulin stimulus | 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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
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. |
long-term memory | The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation. |
long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
membrane depolarization | The process in which membrane potential decreases with respect to its steady-state potential, usually from negative potential to a more positive potential. For example, the initial depolarization during the rising phase of an action potential is in the direction from the negative steady-state resting potential towards the positive membrane potential that will be the peak of the action potential. |
membrane hyperpolarization | The process in which membrane potential increases with respect to its steady-state potential, usually from negative potential to a more negative potential. For example, during the repolarization phase of an action potential the membrane potential often becomes more negative or hyperpolarized before returning to the steady-state resting potential. |
microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
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 peptidyl-tyrosine phosphorylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
neuron projection extension | Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of cell-matrix adhesion | Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix. |
positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
positive regulation of excitatory postsynaptic potential | Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
positive regulation of insulin receptor signaling pathway | Any process that increases the frequency, rate or extent of insulin receptor signaling. |
positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
positive regulation of interleukin-13 production | Any process that activates or increases the frequency, rate, or extent of interleukin-13 production. |
positive regulation of interleukin-4 production | Any process that activates or increases the frequency, rate, or extent of interleukin-4 production. |
positive regulation of interleukin-5 production | Any process that activates or increases the frequency, rate, or extent of interleukin-5 production. |
positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
positive regulation of protein transport | Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
positive regulation of T-helper 2 cell cytokine production | Any process that activates or increases the frequency, rate or extent of T-helper 2 cell cytokine production. |
positive regulation of T-helper 2 cell differentiation | Any process that activates or increases the frequency, rate or extent of T-helper 2 cell differentiation. |
protein kinase C signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound. |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | Any process that modulates the frequency, rate or extent of neurotransmitter receptor localization to postsynaptic specialization membrane. |
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. |
vesicle transport along microtubule | The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
30 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 |
A1Z9X0 | aPKC | Atypical protein kinase C | Drosophila melanogaster (Fruit fly) | SS |
O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
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 |
Q05655 | PRKCD | Protein kinase C delta type | Homo sapiens (Human) | SS |
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 |
Q62074 | Prkci | Protein kinase C iota type | Mus musculus (Mouse) | SS |
Q02956 | Prkcz | Protein kinase C zeta type | Mus musculus (Mouse) | SS |
F1M7Y5 | Prkci | Protein kinase C iota type | Rattus norvegicus (Rat) | SS |
P09217 | Prkcz | Protein kinase C zeta type | Rattus norvegicus (Rat) | SS |
Q19266 | pkc-3 | Protein kinase C-like 3 | Caenorhabditis elegans | SS |
Q9SUA3 | D6PKL1 | Serine/threonine-protein kinase D6PKL1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q90XF2 | prkci | Protein kinase C iota type | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MPSRTGPKME | GSGGRVRLKA | HYGGDIFITS | VDAATTFEEL | CEEVRDMCRL | HQQHPLTLKW |
70 | 80 | 90 | 100 | 110 | 120 |
VDSEGDPCTV | SSQMELEEAF | RLARQCRDEG | LIIHVFPSTP | EQPGLPCPGE | DKSIYRRGAR |
130 | 140 | 150 | 160 | 170 | 180 |
RWRKLYRANG | HLFQAKRFNR | RAYCGQCSER | IWGLARQGYR | CINCKLLVHK | RCHGLVPLTC |
190 | 200 | 210 | 220 | 230 | 240 |
RKHMDSVMPS | QEPPVDDKNE | DADLPSEETD | GIAYISSSRK | HDSIKDDSED | LKPVIDGMDG |
250 | 260 | 270 | 280 | 290 | 300 |
IKISQGLGLQ | DFDLIRVIGR | GSYAKVLLVR | LKKNDQIYAM | KVVKKELVHD | DEDIDWVQTE |
310 | 320 | 330 | 340 | 350 | 360 |
KHVFEQASSN | PFLVGLHSCF | QTTSRLFLVI | EYVNGGDLMF | HMQRQRKLPE | EHARFYAAEI |
370 | 380 | 390 | 400 | 410 | 420 |
CIALNFLHER | GIIYRDLKLD | NVLLDADGHI | KLTDYGMCKE | GLGPGDTTST | FCGTPNYIAP |
430 | 440 | 450 | 460 | 470 | 480 |
EILRGEEYGF | SVDWWALGVL | MFEMMAGRSP | FDIITDNPDM | NTEDYLFQVI | LEKPIRIPRF |
490 | 500 | 510 | 520 | 530 | 540 |
LSVKASHVLK | GFLNKDPKER | LGCRPQTGFS | DIKSHAFFRS | IDWDLLEKKQ | ALPPFQPQIT |
550 | 560 | 570 | 580 | 590 | |
DDYGLDNFDT | QFTSEPVQLT | PDDEDAIKRI | DQSEFEGFEY | INPLLLSTEE | SV |