P48454
SS
Gene name |
PPP3CC (CALNA3, CNA3) |
Protein name |
Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform |
Names |
CAM-PRP catalytic subunit, Calcineurin, testis-specific catalytic subunit, Calmodulin-dependent calcineurin A subunit gamma isoform |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5533 |
EC number |
3.1.3.16: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
Calcium-dependent, calmodulin-stimulated protein phosphatase (PPP3CC) plays a role in the transduction of intracellular Ca2+-dependent signals in various cellular processes. This protein contains a novel autoinhibitory segment (AIS) in addition to the well-known autoinhibitory domain (AID). AIS and AID cooperatively inhibit enzyme activity.
Autoinhibitory domains (AIDs)
Target domain |
93-293 (Calcineurin-like phosphoesterase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
93-293 (Calcineurin-like phosphoesterase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Li SJ et al. (2016) "Cooperative autoinhibition and multi-level activation mechanisms of calcineurin", Cell research, 26, 336-49
- Tokoyoda K et al. (2000) "Synergism between the calmodulin-binding and autoinhibitory domains on calcineurin is essential for the induction of their phosphatase activity", The Journal of biological chemistry, 275, 11728-34
- Rumi-Masante J et al. (2012) "Structural basis for activation of calcineurin by calmodulin", Journal of molecular biology, 415, 307-17
- Kissinger CR et al. (1995) "Crystal structures of human calcineurin and the human FKBP12-FK506-calcineurin complex", Nature, 378, 641-4
Autoinhibited structure
Activated structure
2 structures for P48454
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7U0T | X-ray | 245 A | A | 333-368 | PDB |
| AF-P48454-F1 | Predicted | AlphaFoldDB |
367 variants for P48454
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000678667 rs1563790727 CA370539328 |
400 | M>T | Keratoconus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370540278 rs1207967502 |
2 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4667639 CA370540281 rs767818391 COSM296855 |
3 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA173894924 rs559908748 |
5 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4667640 rs373289771 |
5 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478627773 CA370540311 |
7 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760753352 CA4667641 |
8 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4667642 rs764089381 |
8 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA173894970 rs868229086 |
9 | S>Y | No |
ClinGen Ensembl |
|
|
rs1360316239 CA370540327 |
10 | T>I | No |
ClinGen gnomAD |
|
|
rs1205875826 CA370540329 |
11 | T>A | No |
ClinGen TOPMed |
|
|
CA4667644 rs762468493 |
11 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750859445 CA4667646 |
12 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758721740 CA4667647 |
13 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs758721740 CA370540341 |
13 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA370540340 rs758721740 |
13 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1563656012 CA370540352 |
15 | I>V | No |
ClinGen Ensembl |
|
|
CA370540368 rs1344655771 |
17 | A>P | No |
ClinGen gnomAD |
|
|
rs146104346 CA4667663 |
19 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776901296 CA370533810 |
19 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776901296 CA4667664 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3735318 rs146104346 CA370533809 |
19 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1269517990 CA370533814 |
20 | F>V | No |
ClinGen TOPMed |
|
|
CA370533833 rs1177331745 |
23 | T>A | No |
ClinGen gnomAD |
|
|
rs1228506637 CA370533836 |
23 | T>I | No |
ClinGen TOPMed |
|
|
CA4667666 rs138834215 |
25 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4667665 rs371119915 |
25 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1163074375 CA370533857 |
27 | T>S | No |
ClinGen gnomAD |
|
|
CA4667668 rs763316735 |
29 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA370533881 rs1320131635 |
30 | E>D | No |
ClinGen TOPMed |
|
|
rs766657020 CA4667669 |
30 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464974815 COSM1313924 CA370533898 |
33 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA370533923 rs1329219619 |
34 | N>S | No |
ClinGen gnomAD |
|
|
rs755776313 CA4667671 |
39 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs530288872 CA4667672 |
40 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756788817 CA4667674 |
41 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753384106 CA4667673 |
41 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4667675 rs146307937 RCV000913457 |
43 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370534072 rs1461004916 |
44 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 44 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 44 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 44 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745800385 CA370534087 |
45 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1365188184 CA370534091 |
45 | H>Q | No |
ClinGen gnomAD |
|
|
rs745800385 CA4667676 |
45 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370534115 rs1197222442 |
47 | V>A | No |
ClinGen gnomAD |
|
|
CA4667678 COSM163693 rs771899958 |
51 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370534173 rs1365012058 |
51 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4667679 rs560532505 |
52 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201270011 CA370534189 |
53 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs201270011 CA173870814 |
53 | E>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs761936868 CA4667683 |
56 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4667682 rs777026325 |
56 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770006457 CA4667684 |
57 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370534246 rs1332872876 |
60 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201924888 CA173870874 |
64 | G>A | No |
ClinGen Ensembl |
|
|
CA173870876 rs894194265 |
65 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766751572 CA4667687 |
71 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs774623986 CA4667688 |
72 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA580951488 rs1217165830 |
73 | T>* | No |
ClinGen gnomAD |
|
|
CA4667689 rs200358456 |
74 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4667690 rs763694932 |
77 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370534656 rs1200411153 |
78 | D>H | No |
ClinGen gnomAD |
|
|
rs753508772 CA4667691 |
79 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756693360 CA4667692 |
79 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210980545 CA370534718 |
81 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1210980545 CA370534720 |
81 | I>V | No |
ClinGen TOPMed gnomAD |
|
| rs142254973 | 83 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478993420 CA370534896 |
84 | C>F | No |
ClinGen gnomAD |
|
|
CA370534984 rs1172618340 |
88 | H>N | No |
ClinGen gnomAD |
|
|
CA4667708 rs759842345 |
88 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4667709 rs767875233 |
89 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4667710 rs776263969 |
90 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1098102 rs558510846 CA4667712 |
91 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4667713 rs150347888 |
92 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370535074 rs1586811611 |
92 | F>Y | No |
ClinGen Ensembl |
|
|
CA370535115 rs1322027924 |
93 | D>E | No |
ClinGen gnomAD |
|
|
CA173871242 rs1048128164 |
95 | M>I | No |
ClinGen Ensembl |
|
|
CA173871254 rs1023915044 |
96 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757957809 CA4667714 |
98 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208095509 CA370535311 |
103 | S>T | No |
ClinGen gnomAD |
|
|
rs1266363665 CA370535367 |
105 | S>G | No |
ClinGen TOPMed |
|
|
rs1563709966 CA370535403 |
106 | N>Y | No |
ClinGen Ensembl |
|
|
CA370535445 rs1330362107 |
107 | T>A | No |
ClinGen TOPMed |
|
|
rs201508276 CA4667717 |
108 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370535475 rs1265047172 |
108 | R>L | No |
ClinGen gnomAD |
|
|
rs1236964499 CA370535484 |
109 | Y>C | No |
ClinGen gnomAD |
|
|
CA4667719 rs781199265 |
109 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA370535496 rs1381878020 |
110 | L>V | No |
ClinGen TOPMed |
|
|
rs748367526 CA4667720 |
111 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4667721 rs201693564 |
111 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149478416 CA173871304 |
113 | G>A | No |
ClinGen ESP TOPMed |
|
|
rs1457119483 CA370535568 |
115 | Y>C | No |
ClinGen gnomAD |
|
|
rs1406391775 CA370535666 |
122 | S>T | No |
ClinGen gnomAD |
|
|
CA370539694 rs1297290684 |
125 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1220305880 CA370539734 |
128 | Y>C | No |
ClinGen gnomAD |
|
|
rs1338151709 CA370539727 |
128 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759515600 CA4667757 |
140 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs767517685 CA4667758 |
141 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763951398 CA4667761 |
144 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1221817 CA4667760 rs760326256 |
144 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA370539984 rs1489474556 |
145 | G>R | No |
ClinGen gnomAD |
|
|
rs767126681 CA173889769 |
147 | H>N | No |
ClinGen Ensembl |
|
|
rs753995074 CA4667762 |
147 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA173889785 rs867396857 |
149 | C>F | No |
ClinGen Ensembl |
|
|
rs1267231596 CA370540047 |
149 | C>R | No |
ClinGen gnomAD |
|
|
rs1178259768 CA370540144 |
159 | K>R | No |
ClinGen gnomAD |
|
|
CA4667784 rs750657661 COSM183176 |
163 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750657661 CA173899572 |
163 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61756434 CA4667785 COSM167175 |
163 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs549332380 CA173899595 |
167 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376449000 CA4667788 |
168 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4667789 rs376449000 |
168 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748505175 CA4667790 |
170 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1196783532 CA370542006 |
171 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1240129734 CA370542048 |
173 | A>S | No |
ClinGen gnomAD |
|
|
rs1470602375 CA370542063 |
174 | C>R | No |
ClinGen gnomAD |
|
|
COSM1623858 rs778647833 CA4667792 CA4667793 |
175 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 176 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411984211 CA370542134 |
177 | T>A | No |
ClinGen gnomAD |
|
|
CA4667794 rs771701961 |
180 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1460829300 CA370542270 |
183 | L>P | No |
ClinGen TOPMed |
|
|
rs1395072241 CA370542280 |
184 | A>D | No |
ClinGen gnomAD |
|
|
rs547496630 CA173899663 |
185 | A>V | No |
ClinGen 1000Genomes |
|
|
CA173899676 rs998887073 |
190 | Q>K | No |
ClinGen TOPMed |
|
|
rs1328612960 CA370542425 |
194 | V>L | No |
ClinGen gnomAD |
|
|
rs1355772852 CA370542433 |
195 | H>R | No |
ClinGen gnomAD |
|
|
rs1442386624 CA370542441 |
196 | G>A | No |
ClinGen gnomAD |
|
|
rs746893360 CA4667797 |
198 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1376577299 CA370542458 |
199 | S>P | No |
ClinGen gnomAD |
|
|
rs768601864 CA4667798 |
200 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA370542490 rs1462576003 |
204 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569319692 CA173899723 |
207 | D>G | No |
ClinGen Ensembl |
|
|
CA173899736 rs758661293 |
208 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs908862200 CA173901305 |
212 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 214 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748154020 CA4667821 |
215 | T>M | Variant assessed as Somatic; 0.0002781 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763127542 CA4667824 |
217 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4667823 rs773037392 |
217 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM241237 rs201570071 CA4667826 |
219 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs370906756 CA4667827 |
220 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4667828 rs767498113 |
222 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370542861 rs1346495084 |
223 | V>A | No |
ClinGen TOPMed |
|
|
CA370542875 rs1303380694 |
224 | C>Y | No |
ClinGen TOPMed |
|
|
CA4667830 rs761321350 |
226 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285551091 CA370542911 |
227 | L>V | No |
ClinGen gnomAD |
|
|
rs1231290289 CA370542950 |
229 | S>C | No |
ClinGen Ensembl |
|
|
rs764524113 CA4667831 |
231 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA370542993 rs1203116207 |
232 | S>L | No |
ClinGen gnomAD |
|
|
CA173901397 rs372425364 |
234 | D>A | No |
ClinGen ESP |
|
|
CA4667833 rs757719598 |
234 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1336470373 CA370543067 |
237 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM223239 CA4667835 rs199697260 |
240 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA370543095 rs199697260 |
240 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370543109 rs780627360 |
242 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482939004 CA370543119 |
243 | H>R | No |
ClinGen TOPMed |
|
|
CA173901418 rs889170062 |
243 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4667838 rs748058050 |
245 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748058050 CA4667839 |
245 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1212770436 CA370543155 |
246 | H>D | No |
ClinGen TOPMed |
|
|
rs777715654 CA4667840 |
247 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573613943 CA4667841 |
248 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322127908 CA370543197 |
248 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1322127908 CA370543195 |
248 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397382342 CA370543207 |
249 | V>A | No |
ClinGen gnomAD |
|
|
CA173901432 rs771564562 |
250 | R>* | No |
ClinGen Ensembl |
|
|
rs142268010 COSM1456098 CA4667842 |
250 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4667843 rs774565998 |
251 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs772177597 CA4667845 |
256 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1463178084 CA370535324 |
259 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370535317 rs1463178084 |
259 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370535350 rs1186195766 |
260 | A>E | No |
ClinGen gnomAD |
|
|
CA370535339 rs1165960402 |
260 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4667862 rs772146715 |
262 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4667863 rs375938980 |
262 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370535430 rs1170587333 |
263 | E>D | No |
ClinGen gnomAD |
|
|
CA173847550 rs867311787 |
266 | Q>H | No |
ClinGen gnomAD |
|
|
CA4667864 rs892898169 |
266 | Q>K | No |
ClinGen gnomAD |
|
|
rs747028980 CA4667866 |
267 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768862245 CA4667867 |
268 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA370535532 rs1290484802 |
269 | N>D | No |
ClinGen gnomAD |
|
|
CA370535565 rs1586860886 |
271 | L>P | No |
ClinGen Ensembl |
|
|
rs1362560168 CA370535573 |
272 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1020359373 CA370535584 |
273 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1020359373 CA173847596 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762288064 CA4667869 |
274 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4667868 rs777277595 |
274 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs971122400 CA173847601 |
275 | R>G | No |
ClinGen Ensembl |
|
|
rs200592618 CA173847607 |
275 | R>T | No |
ClinGen Ensembl |
|
|
CA4667870 rs765615628 |
276 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173847620 rs946725941 |
276 | A>V | No |
ClinGen TOPMed |
|
|
CA4667871 rs773492466 |
277 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370535698 rs1563775981 |
282 | A>T | No |
ClinGen Ensembl |
|
|
rs1259361791 COSM183178 CA370535774 |
285 | R>* | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA370535772 rs1259361791 |
285 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760377688 CA4667892 |
285 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4667893 rs77847127 |
291 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4667894 rs753327372 |
292 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA173847808 rs912550463 |
293 | T>I | No |
ClinGen Ensembl |
|
|
CA370535894 rs1195618473 |
295 | F>C | No |
ClinGen gnomAD |
|
|
rs761410513 CA4667895 |
297 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1216572710 CA370535914 |
299 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370535918 rs1439339609 |
299 | I>T | No |
ClinGen gnomAD |
|
|
rs765027970 CA4667896 |
301 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370535946 rs1290521748 |
303 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343219946 CA370535942 |
303 | S>P | No |
ClinGen gnomAD |
|
|
CA370535947 rs1455214447 |
304 | A>T | No |
ClinGen gnomAD |
|
|
rs750379620 CA4667897 |
305 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs758124603 CA4667898 |
306 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1563776363 CA370535982 |
309 | D>V | No |
ClinGen Ensembl |
|
|
CA4667899 rs780057706 |
312 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1371217828 CA370536046 |
313 | N>T | No |
ClinGen gnomAD |
|
|
rs1410101413 CA370536727 |
315 | A>V | No |
ClinGen gnomAD |
|
|
CA370536764 rs1586866818 |
318 | L>W | No |
ClinGen Ensembl |
|
|
rs1373280514 CA370536792 |
320 | Y>N | No |
ClinGen gnomAD |
|
|
rs769168438 CA4667932 |
323 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4667933 rs772823111 |
323 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139704293 CA4667934 |
325 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766372929 CA4667935 |
327 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370537051 rs1233742011 |
328 | R>S | No |
ClinGen gnomAD |
|
|
rs1301480215 CA370537065 |
330 | F>C | No |
ClinGen gnomAD |
|
|
CA370537079 rs1350356330 |
332 | C>Y | No |
ClinGen gnomAD |
|
|
CA173851969 rs926267034 |
335 | H>Y | No |
ClinGen gnomAD |
|
|
CA173851985 rs369427673 |
337 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA370537127 rs1446299374 |
339 | L>V | No |
ClinGen gnomAD |
|
|
rs1179504402 CA370537131 |
340 | P>T | No |
ClinGen TOPMed |
|
|
rs1225165453 CA370537138 |
341 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4667937 rs201865784 |
342 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4667938 rs767409383 |
343 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251955049 CA370537196 |
345 | V>I | No |
ClinGen TOPMed |
|
|
rs1192518186 CA370537230 |
347 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1192518186 CA370537228 |
347 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1455330060 CA370537329 |
353 | V>A | No |
ClinGen gnomAD |
|
|
rs373349687 CA173852013 |
353 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA370537341 rs1384713539 |
354 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230328740 CA370537553 |
359 | E>D | No |
ClinGen TOPMed |
|
|
rs1266407886 CA370537546 |
359 | E>K | No |
ClinGen TOPMed |
|
|
rs750908882 CA4667965 |
360 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA370537582 rs1184347581 |
362 | V>I | No |
ClinGen gnomAD |
|
|
rs779217504 CA4667966 |
364 | V>* | No |
ClinGen ExAC gnomAD |
|
|
CA4667967 rs758988316 |
365 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370537646 rs1374435794 |
366 | N>S | No |
ClinGen gnomAD |
|
|
rs780461537 CA4667968 |
367 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4667969 rs151088445 |
368 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755314392 CA4667970 |
368 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA370537681 rs1563785535 |
368 | C>W | No |
ClinGen Ensembl |
|
|
CA370537690 rs1394552944 |
369 | S>C | No |
ClinGen gnomAD |
|
|
rs777498246 CA4667971 |
370 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1330570515 CA370537708 |
370 | D>V | No |
ClinGen gnomAD |
|
|
rs545910337 CA4667973 |
371 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4667972 rs749013514 |
371 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs139802616 CA4667974 |
372 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772006030 CA4667976 |
374 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA370537810 rs1336983511 |
377 | D>E | No |
ClinGen gnomAD |
|
|
CA370537796 rs1250277145 |
377 | D>H | No |
ClinGen gnomAD |
|
|
CA4667980 rs768404099 |
380 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4667997 rs745331553 |
383 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1586872140 CA370539095 |
384 | T>A | No |
ClinGen Ensembl |
|
|
CA4667998 rs142649874 |
385 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4667999 rs780038020 |
386 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746979307 CA4668000 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370539141 rs746979307 |
386 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563790639 CA370539149 |
387 | K>E | No |
ClinGen Ensembl |
|
|
rs1438162902 CA370539194 |
388 | E>D | No |
ClinGen gnomAD |
|
|
CA370539217 rs1294888334 |
389 | I>S | No |
ClinGen gnomAD |
|
|
CA4668002 rs776450965 |
391 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4668003 rs761630899 |
392 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4668004 rs769958673 |
396 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319180393 CA370539308 |
397 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370539331 rs1229538371 |
400 | M>I | No |
ClinGen gnomAD |
|
|
rs773438529 CA4668006 |
402 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766431729 CA4668007 |
402 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773438529 CA4668005 |
402 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4668008 rs752089192 |
406 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267601853 CA173855603 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147883306 CA4668009 COSM3395237 |
408 | R>W | lung pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs776153935 CA4668028 |
411 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761053712 CA4668029 |
412 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4668030 rs141498030 |
414 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273955345 CA370539432 |
415 | L>M | No |
ClinGen TOPMed |
|
|
rs758028713 CA4668032 |
417 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370539453 rs1434592828 |
418 | K>T | No |
ClinGen TOPMed |
|
|
CA173856145 rs767032990 |
419 | G>V | No |
ClinGen gnomAD |
|
|
CA4668033 rs766088656 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586872877 CA370539490 |
425 | T>A | No |
ClinGen Ensembl |
|
|
rs750987648 CA4668034 |
425 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1205555981 CA370539513 |
429 | G>C | No |
ClinGen gnomAD |
|
|
rs777474578 CA4668039 |
430 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371775394 CA4668041 |
433 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370539535 CA4668040 rs749492151 |
433 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1476388803 CA370539543 |
434 | G>A | No |
ClinGen gnomAD |
|
|
CA4668042 rs774654172 |
437 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA173856188 rs774834878 |
438 | I>V | No |
ClinGen gnomAD |
|
|
CA4668045 rs375281540 |
439 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393645611 CA370539579 |
440 | T>A | No |
ClinGen gnomAD |
|
|
rs112400329 CA173860901 |
441 | A>D | No |
ClinGen Ensembl |
|
|
rs181246968 CA4668064 |
445 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777212433 CA4668067 |
449 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757246804 CA4668068 |
449 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777212433 CA4668066 |
449 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270286713 CA370540456 |
451 | A>V | No |
ClinGen TOPMed |
|
|
rs1406188368 CA370540457 |
452 | I>L | No |
ClinGen gnomAD |
|
|
rs750644493 CA4668078 |
452 | I>T | No |
ClinGen ExAC |
|
|
CA370540458 rs1406188368 |
452 | I>V | No |
ClinGen gnomAD |
|
|
rs550192301 CA370540463 |
453 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs994085569 CA173861805 |
455 | F>L | No |
ClinGen Ensembl |
|
|
rs568702309 COSM1098107 CA4668079 |
456 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1232108797 CA370540528 |
459 | H>Q | No |
ClinGen gnomAD |
|
|
CA370540524 rs1448632305 |
459 | H>R | No |
ClinGen gnomAD |
|
|
rs1351055651 CA370540518 |
459 | H>Y | No |
ClinGen gnomAD |
|
|
CA370540534 rs1263171282 |
460 | K>E | No |
ClinGen gnomAD |
|
|
rs748750606 CA4668084 |
460 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs117993834 CA4668083 |
460 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4668086 rs773602093 |
462 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4668087 rs773602093 |
462 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547966380 CA4668085 |
462 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4668089 rs148902526 |
463 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4668090 rs267601854 |
463 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4668092 rs373005127 |
467 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4668093 rs143566497 |
468 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563801119 CA370540652 |
469 | G>R | No |
ClinGen Ensembl |
|
|
rs1439514928 CA370540661 |
470 | L>V | No |
ClinGen TOPMed |
|
|
rs765296718 CA4668094 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370540745 rs1200851914 |
476 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 477 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758283531 CA4668097 |
480 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA370540814 rs1371017260 |
481 | K>R | No |
ClinGen gnomAD |
|
|
CA4668099 rs539933461 |
484 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370540875 rs1342230435 |
484 | I>T | No |
ClinGen TOPMed |
|
|
CA370540889 rs1257726142 |
485 | H>Y | No |
ClinGen TOPMed |
|
|
rs558233561 CA370540912 |
486 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1569112 rs558233561 CA4668101 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA173861942 rs760538011 |
487 | G>S | No |
ClinGen gnomAD |
|
|
CA370540938 rs1163020062 |
487 | G>V | No |
ClinGen gnomAD |
|
|
rs569926835 CA4668102 |
488 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4668103 rs371144311 |
489 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148030191 CA4668105 |
490 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402909050 CA370540951 |
490 | M>T | No |
ClinGen gnomAD |
|
|
rs148030191 CA4668106 |
490 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1017999814 CA173861953 |
492 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4668108 rs746732880 |
493 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370540979 rs1443052955 |
494 | T>I | No |
ClinGen gnomAD |
|
|
rs1388508532 CA370541004 |
498 | S>* | No |
ClinGen gnomAD |
|
|
CA4668110 rs776167089 |
499 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs761251789 CA4668111 |
500 | A>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_061758 rs28764007 CA4668112 |
501 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4668114 rs762840722 |
502 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1404299710 CA370541040 |
504 | S>N | No |
ClinGen gnomAD |
|
|
CA173862058 rs956938101 |
505 | D>E | No |
ClinGen TOPMed |
|
|
CA4668116 rs751714017 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4668117 rs755264247 |
507 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180970556 CA370541083 |
510 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 512 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P48454
8 regional properties for P48454
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 500 - 785 | IPR000719 |
| domain | S-locus glycoprotein domain | 215 - 322 | IPR000858 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 502 - 764 | IPR001245 |
| domain | Bulb-type lectin domain | 33 - 183 | IPR001480 |
| domain | PAN/Apple domain | 343 - 425 | IPR003609 |
| active_site | Serine/threonine-protein kinase, active site | 621 - 633 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 506 - 528 | IPR017441 |
| domain | S-locus receptor kinase, C-terminal | 772 - 814 | IPR021820 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| calcineurin complex | A heterodimeric calcium ion and calmodulin dependent protein phosphatase composed of catalytic and regulatory subunits; the regulatory subunit is very similar in sequence to calmodulin. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| protein serine/threonine phosphatase complex | A complex, normally consisting of a catalytic and a regulatory subunit, which catalyzes the removal of a phosphate group from a serine or threonine residue of a protein. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium-dependent protein serine/threonine phosphatase activity | Catalysis of the reactions: protein serine phosphate + H2O = protein serine + phosphate; and protein threonine phosphate + H2O = protein threonine + phosphate. These reactions require the presence of calcium ions. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| calmodulin-dependent protein phosphatase activity | Catalysis of the reaction: protein serine/threonine phosphate + H2O = protein serine/threonine + phosphate, dependent on the presence of calcium-bound calmodulin. |
| metal ion binding | Binding to a metal ion. |
| myosin phosphatase activity | Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| calcineurin-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell by activation of a transcription factor as a consequence of dephosphorylation by Ca(2+)-activated calcineurin. The process begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin is a calcium- and calmodulin-dependent serine/threonine protein phosphatase with a conserved function in eukaryotic species from yeast to humans. In yeast and fungi, calcineurin regulates stress signaling and cell cycle, and sporulation and virulence in pathogenic fungi. In metazoans, calcineurin is involved in cell commitment, organogenesis and organ development and immune function of T-lymphocytes. By a conserved mechanism, calcineurin phosphatase activates fungal Crz1 and mammalian NFATc by dephosphorylation and translocation of these transcription factors to the nucleus to regulate gene expression. |
| calcineurin-NFAT signaling cascade | Any intracellular signal transduction in which the signal is passed on within the cell by activation of a member of the NFAT protein family as a consequence of NFAT dephosphorylation by Ca(2+)-activated calcineurin. The cascade begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin dephosphorylates multiple phosphoserine residues on NFAT, resulting in the translocation of NFAT to the nucleus. The cascade ends with regulation of transcription by NFAT. The calcineurin-NFAT cascade lies downstream of many cell surface receptors, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) that signal to mobilize calcium ions (Ca2+). |
| negative regulation of calcium ion import across plasma membrane | Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion import across plasma membrane. |
| negative regulation of voltage-gated calcium channel activity | Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated calcium channel activity. |
| positive regulation of calcineurin-NFAT signaling cascade | Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade. |
| positive regulation of calcium ion import across plasma membrane | Any process that activates or increases the frequency, rate or extent of calcium ion import across plasma membrane. |
| positive regulation of synaptic vesicle endocytosis | Any process that activates or increases the frequency, rate or extent of synaptic vesicle endocytosis. |
| positive regulation of voltage-gated calcium channel activity | Any process that activates or increases the frequency, rate or extent of voltage-gated calcium channel activity. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P23287 | CNA1 | Serine/threonine-protein phosphatase 2B catalytic subunit A1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P48452 | PPP3CA | Protein phosphatase 3 catalytic subunit alpha | Bos taurus (Bovine) | SS |
| Q27889 | Pp2B-14D | Serine/threonine-protein phosphatase 2B catalytic subunit 2 | Drosophila melanogaster (Fruit fly) | SS |
| P48456 | CanA1 | Serine/threonine-protein phosphatase 2B catalytic subunit 1 | Drosophila melanogaster (Fruit fly) | SS |
| Q9VXF1 | CanA-14F | Serine/threonine-protein phosphatase 2B catalytic subunit 3 | Drosophila melanogaster (Fruit fly) | SS |
| P16298 | PPP3CB | Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform | Homo sapiens (Human) | EV |
| Q08209 | PPP3CA | Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform | Homo sapiens (Human) | EV |
| P48453 | Ppp3cb | Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform | Mus musculus (Mouse) | SS |
| P63328 | Ppp3ca | Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform | Mus musculus (Mouse) | EV |
| P48455 | Ppp3cc | Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform | Mus musculus (Mouse) | PR |
| P20651 | Ppp3cb | Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform | Rattus norvegicus (Rat) | SS |
| P63329 | Ppp3ca | Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform | Rattus norvegicus (Rat) | SS |
| Q0G819 | tax-6 | Serine/threonine-protein phosphatase 2B catalytic subunit | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGRRFHLST | TDRVIKAVPF | PPTQRLTFKE | VFENGKPKVD | VLKNHLVKEG | RLEEEVALKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INDGAAILRQ | EKTMIEVDAP | ITVCGDIHGQ | FFDLMKLFEV | GGSPSNTRYL | FLGDYVDRGY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FSIECVLYLW | SLKINHPKTL | FLLRGNHECR | HLTDYFTFKQ | ECRIKYSEQV | YDACMETFDC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPLAALLNQQ | FLCVHGGMSP | EITSLDDIRK | LDRFTEPPAF | GPVCDLLWSD | PSEDYGNEKT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LEHYTHNTVR | GCSYFYSYPA | VCEFLQNNNL | LSIIRAHEAQ | DAGYRMYRKS | QATGFPSLIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFSAPNYLDV | YNNKAAVLKY | ENNVMNIRQF | NCSPHPYWLP | NFMDVFTWSL | PFVGEKVTEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVNVLNICSD | DELISDDEAE | GSTTVRKEII | RNKIRAIGKM | ARVFSILRQE | SESVLTLKGL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TPTGTLPLGV | LSGGKQTIET | ATVEAVEARE | AIRGFSLQHK | IRSFEEARGL | DRINERMPPR |
| 490 | 500 | 510 | |||
| KDSIHAGGPM | KSVTSAHSHA | AHRSDQGKKA | HS |