Q00526
PR
Gene name |
CDK3 (CDKN3) |
Protein name |
Cyclin-dependent kinase 3 |
Names |
Cell division protein kinase 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1018 |
EC number |
2.7.11.22: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
144-167 (Activation loop from InterPro)
Target domain |
4-286 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for Q00526
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7XQK | X-ray | 225 A | A | 1-305 | PDB |
| 8H4R | X-ray | 275 A | A | 1-305 | PDB |
| AF-Q00526-F1 | Predicted | AlphaFoldDB |
248 variants for Q00526
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA401078841 rs1471867890 |
2 | D>N | No |
ClinGen TOPMed |
|
|
rs759038608 CA8777269 |
3 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8777268 rs750515867 |
3 | M>V | No |
ClinGen ExAC |
|
|
rs780675488 CA8777270 |
5 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA294113411 rs577105547 |
8 | E>A | No |
ClinGen gnomAD |
|
|
CA401079236 rs1464015458 |
9 | K>N | No |
ClinGen gnomAD |
|
|
CA294113416 rs201970325 |
10 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401079349 rs1263734022 |
12 | E>V | No |
ClinGen gnomAD |
|
|
CA401079471 rs1567901389 |
15 | Y>C | No |
ClinGen Ensembl |
|
|
rs1598220765 CA401079559 |
17 | V>G | No |
ClinGen Ensembl |
|
|
CA401079532 rs1265522160 |
17 | V>M | No |
ClinGen TOPMed |
|
|
rs1209072584 CA401079575 |
18 | V>A | No |
ClinGen TOPMed |
|
|
rs769361969 CA8777275 |
21 | A>T | No |
ClinGen ExAC |
|
| TCGA novel | 21 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401079697 rs1441316603 |
23 | N>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 25 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294113437 rs1050110423 |
32 | L>P | No |
ClinGen TOPMed |
|
|
CA401080023 rs1598220811 |
34 | K>N | No |
ClinGen Ensembl |
|
|
rs774253511 CA8777280 |
35 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA401080045 rs1598220822 |
36 | R>G | No |
ClinGen Ensembl |
|
|
CA401081317 rs1179098459 |
41 | M>I | No |
ClinGen gnomAD |
|
|
CA294113673 rs267605054 |
43 | G>R | No |
ClinGen Ensembl |
|
|
rs61742972 CA294113687 |
44 | V>G | No |
ClinGen Ensembl |
|
|
rs772030472 CA8777301 |
44 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425925648 CA401081435 |
45 | P>L | No |
ClinGen gnomAD |
|
|
CA401081439 rs1168340718 |
46 | S>G | No |
ClinGen gnomAD |
|
|
rs142601065 CA294113706 |
50 | R>K | No |
ClinGen ESP gnomAD |
|
|
CA401081553 rs1396827743 |
52 | I>T | No |
ClinGen gnomAD |
|
|
COSM195506 rs770199924 CA8777304 |
53 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291046690 CA401081629 |
55 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232462469 CA401081787 |
62 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8777308 rs766526964 |
62 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438093806 CA401081795 |
63 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401081793 rs1438093806 |
63 | I>V | No |
ClinGen TOPMed gnomAD |
|
| rs150589656 | 64 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201723925 CA8777310 |
64 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294113737 rs896451914 |
65 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753067780 CA8777312 |
65 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401082019 rs1028524830 |
69 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1028524830 CA294113793 |
69 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs547553625 CA294113811 |
70 | V>G | No |
ClinGen 1000Genomes |
|
| rs774077788 | 72 | N>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954274711 CA294113837 |
72 | N>S | No |
ClinGen gnomAD |
|
|
rs144506173 CA8777325 |
73 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140567861 COSM195507 CA8777324 |
73 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401082256 rs1173759897 |
77 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1414525777 CA401082282 |
79 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414525777 CA401082276 |
79 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 84 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386357782 CA401082458 |
85 | Q>* | No |
ClinGen TOPMed |
|
|
CA294113871 rs536521071 |
85 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401082489 rs1432879705 |
86 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8777327 rs774332704 |
87 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs747891051 CA294113899 |
89 | K>* | No |
ClinGen gnomAD |
|
|
rs1223288320 CA401082696 |
91 | M>I | No |
ClinGen gnomAD |
|
|
CA401082669 rs1324587154 |
91 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764397013 CA8777332 |
94 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202101138 CA401082850 |
96 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176113692 CA401082892 |
97 | S>* | No |
ClinGen gnomAD |
|
|
CA401082975 rs1194967367 |
98 | E>A | No |
ClinGen gnomAD |
|
|
rs764867113 CA8777335 |
98 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 100 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267605055 CA294113936 |
100 | P>L | No |
ClinGen Ensembl |
|
|
CA401083077 rs1405094423 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA401083131 rs1364910289 |
102 | H>Y | No |
ClinGen gnomAD |
|
|
CA401083178 rs1422490622 |
103 | L>V | No |
ClinGen gnomAD |
|
|
rs746925159 CA8777339 |
104 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779860792 CA8777338 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
| VAR_041973 | 106 | S>N | a glioblastoma multiforme sample; somatic mutation [UniProt] | No | UniProt |
|
rs779004517 CA8777364 |
107 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401083540 rs779004517 |
107 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746058055 CA8777365 |
108 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401083622 rs1167660963 |
112 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs772166842 CA8777367 |
113 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772166842 CA401083669 |
113 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780226863 CA8777368 |
114 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1598221758 CA401083749 |
115 | V>G | No |
ClinGen Ensembl |
|
|
CA8777370 rs769212297 |
115 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777067823 CA8777371 |
117 | F>Y | No |
ClinGen ExAC |
|
|
CA8777372 rs762171036 |
118 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA401083930 rs1336340701 |
118 | C>Y | No |
ClinGen gnomAD |
|
|
CA401083989 rs1335390935 |
119 | H>Q | No |
ClinGen gnomAD |
|
|
CA8777373 rs770156329 |
119 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs937087926 CA294114205 |
120 | S>* | No |
ClinGen TOPMed |
|
|
CA401083996 rs1294509110 |
120 | S>T | No |
ClinGen TOPMed |
|
|
CA401084047 rs1326407881 |
121 | H>R | No |
ClinGen gnomAD |
|
|
CA8777375 rs762715989 |
122 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8777374 COSM1303365 rs201685548 |
122 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA294114214 rs34918446 |
124 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34918446 CA8777377 VAR_041974 |
124 | I>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401084136 rs1262152596 |
124 | I>V | No |
ClinGen gnomAD |
|
|
rs866091789 CA294114220 |
126 | R>* | No |
ClinGen gnomAD |
|
|
rs369742590 CA8777378 |
126 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752611765 CA8777380 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs373239489 CA294114257 |
131 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401084309 rs1470985496 |
134 | L>F | No |
ClinGen gnomAD |
|
|
rs1416577383 CA401084362 |
136 | N>S | No |
ClinGen TOPMed |
|
|
rs1380968438 CA401084455 |
138 | L>F | No |
ClinGen gnomAD |
|
|
CA8777383 rs142329959 |
138 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401084471 rs1598221838 |
139 | G>A | No |
ClinGen Ensembl |
|
|
CA401084546 rs1252565959 |
142 | K>R | No |
ClinGen TOPMed |
|
|
rs768656670 CA8777387 |
144 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748605731 CA8777389 |
147 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256140659 CA401084760 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs369829842 COSM1710805 CA294114296 |
150 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA294114307 rs972125613 |
150 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1198487165 CA401084822 |
151 | A>T | Variant assessed as Somatic; 4.85e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1258881665 CA401084864 |
152 | F>C | No |
ClinGen gnomAD |
|
|
rs763221782 CA401084866 |
152 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368861061 CA8777393 |
153 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1039702806 CA294114351 |
154 | V>G | No |
ClinGen Ensembl |
|
|
rs145748425 CA8777394 |
154 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8777396 rs148982467 |
155 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361788666 CA401084976 |
157 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1424386342 COSM3820602 CA401084978 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201655552 CA294114381 |
158 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201655552 CA8777398 |
158 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401085015 rs1301553464 |
159 | Y>N | No |
ClinGen gnomAD |
|
|
CA8777401 rs753726718 |
160 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753726718 CA8777400 |
160 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777402 rs766594851 CA401085178 |
162 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775210941 CA8777418 |
163 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479816598 CA401085355 |
165 | T>I | No |
ClinGen gnomAD |
|
|
rs540948291 CA294114476 |
167 | W>* | No |
ClinGen gnomAD |
|
|
rs760094955 CA8777419 |
168 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs764108595 CA8777420 COSM1710806 |
169 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs945345613 CA401085419 |
169 | R>H | No |
ClinGen gnomAD |
|
|
CA294114510 rs945345613 |
169 | R>L | No |
ClinGen gnomAD |
|
|
CA8777422 rs761700729 |
170 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8777423 rs761700729 |
170 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401085430 rs1460205083 |
170 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332967714 CA401085438 |
171 | P>R | No |
ClinGen gnomAD |
|
|
rs1451304682 CA401085452 |
172 | E>D | No |
ClinGen gnomAD |
|
|
rs936675752 CA294114550 |
172 | E>K | No |
ClinGen TOPMed |
|
|
CA8777425 rs376616847 |
173 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8777426 rs767721527 |
174 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA294114554 rs1049810168 |
175 | L>W | No |
ClinGen gnomAD |
|
|
CA401085499 rs1220627683 |
176 | G>D | No |
ClinGen gnomAD |
|
|
CA401085492 rs1305562924 |
176 | G>S | No |
ClinGen gnomAD |
|
|
CA8777429 rs778345034 |
178 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1567902152 CA401085580 |
181 | T>N | No |
ClinGen Ensembl |
|
|
CA294114567 rs949813280 |
183 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1461437064 CA401085633 |
184 | V>M | No |
ClinGen TOPMed |
|
|
CA8777431 rs765907594 |
185 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA294114572 rs765907594 |
185 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1260018134 CA401085650 |
185 | D>Y | No |
ClinGen gnomAD |
|
|
CA8777432 rs779466474 |
189 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777433 rs746233942 |
190 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924308327 CA294114599 |
191 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs775227568 CA8777435 |
195 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401086075 rs1305451503 |
198 | T>I | No |
ClinGen gnomAD |
|
|
rs200505631 CA8777452 |
199 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777453 rs758771724 |
199 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8777454 rs779790633 |
201 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1489962494 CA401086160 |
202 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401086202 rs975691235 |
204 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs975691235 CA294115042 |
204 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768334124 CA8777456 |
205 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176169667 CA401086289 |
207 | S>A | No |
ClinGen gnomAD |
|
|
rs1378404223 CA401086296 |
207 | S>C | No |
ClinGen gnomAD |
|
|
rs1364659184 CA401086314 |
208 | E>A | No |
ClinGen gnomAD |
|
|
CA401086309 rs1159194379 |
208 | E>K | No |
ClinGen gnomAD |
|
|
CA294115076 rs112568448 |
211 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8777458 rs112568448 |
211 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1580687 CA8777459 rs769781129 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs34670267 CA8777460 VAR_041975 |
214 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8777461 rs34670267 |
214 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8777462 rs372096923 |
217 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296582663 CA401086577 |
217 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1296582663 CA401086569 |
217 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401086628 rs1567902414 |
219 | L>P | No |
ClinGen Ensembl |
|
|
rs760852282 CA8777465 |
220 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777466 rs764342540 |
221 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs767680152 | 221 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401086683 rs1230438905 |
222 | P>L | No |
ClinGen gnomAD |
|
|
rs1357683798 CA401086676 |
222 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM2742628 CA8777468 rs761930662 |
224 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA401086728 rs1203192617 |
225 | D>N | No |
ClinGen gnomAD |
|
|
VAR_021101 rs2069532 CA8777470 |
226 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765846044 CA8777469 |
226 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs758857524 TCGA novel CA8777471 |
227 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
| TCGA novel | 227 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150330115 CA8777473 |
229 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401086839 rs1471669599 |
230 | V>F | No |
ClinGen gnomAD |
|
|
CA401086864 rs1287829842 |
231 | T>N | No |
ClinGen TOPMed |
|
|
rs751922059 CA8777475 |
235 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777477 rs780883345 |
238 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA294115196 rs1045592770 |
239 | S>I | No |
ClinGen TOPMed |
|
|
rs1402496688 CA401087014 |
241 | P>T | No |
ClinGen gnomAD |
|
|
CA8777479 rs747669949 |
249 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs374536763 CA8777480 |
251 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401087266 rs374536763 |
251 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8777481 rs777717646 |
252 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs749171260 CA8777482 |
254 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242447932 CA401087436 |
258 | E>Q | No |
ClinGen gnomAD |
|
|
CA8777486 rs202135680 |
259 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1474976382 CA401087529 |
261 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8777488 rs776850758 |
263 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs17884251 VAR_021102 CA8777489 |
264 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1567902526 CA401087577 |
264 | M>V | No |
ClinGen Ensembl |
|
|
CA294117464 rs1017850235 |
265 | Q>E | No |
ClinGen gnomAD |
|
|
rs141494807 CA8777507 |
265 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1275337779 CA401088685 |
266 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1180497472 CA401088761 |
268 | Q>R | No |
ClinGen TOPMed |
|
|
rs1598225218 CA401088819 |
270 | D>A | No |
ClinGen Ensembl |
|
|
rs1598225218 CA401088818 |
270 | D>G | No |
ClinGen Ensembl |
|
|
CA8777510 rs770109855 |
271 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748431056 CA8777509 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221973790 CA401088874 |
272 | S>R | No |
ClinGen gnomAD |
|
|
CA294117495 rs964985896 |
274 | R>Q | No |
ClinGen gnomAD |
|
|
rs201330551 COSM1580688 CA8777512 |
274 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8777514 rs372181171 |
276 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8777517 rs375455007 |
278 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8777516 rs759849744 |
278 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292556504 CA401089088 |
279 | T>I | No |
ClinGen gnomAD |
|
|
CA401089083 rs1292556504 |
279 | T>S | No |
ClinGen gnomAD |
|
|
CA8777520 rs200812167 |
282 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8777521 rs753400697 |
283 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs567961585 CA8777522 |
284 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 284 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029368917 CA294117585 |
287 | S>L | No |
ClinGen gnomAD |
|
|
rs537078570 CA8777525 |
288 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8777526 rs1387444937 |
289 | P>A | No |
ClinGen TOPMed |
|
|
rs1210671984 CA401089371 |
289 | P>L | No |
ClinGen gnomAD |
|
|
rs1387444937 COSM1710807 CA401089364 |
289 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs369611360 CA8777529 |
290 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361009282 CA401089459 |
291 | P>S | No |
ClinGen TOPMed |
|
|
rs374296670 CA294117641 |
292 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401089484 rs374296670 |
292 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8777530 rs770201571 |
294 | A>T | No |
ClinGen ExAC |
|
|
rs778085696 CA8777531 |
296 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8777532 rs749331754 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8777533 rs771002514 |
298 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401089649 rs1163198149 |
298 | Y>D | No |
ClinGen gnomAD |
|
|
rs774742317 CA8777534 |
299 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8777537 rs775896948 |
302 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377317846 CA8777539 |
302 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8777538 rs377317846 |
302 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8777540 rs753491759 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761255799 CA8777541 |
304 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA401089914 rs1323287407 |
306 | H>R | No |
ClinGen gnomAD |
No associated diseases with Q00526
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.22 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cyclin-dependent protein kinase holoenzyme complex | Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cyclin-dependent protein serine/threonine kinase activity | Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cellular response to DNA damage 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 a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| G0 to G1 transition | The mitotic cell cycle phase transition whose occurrence commits the cell from the G0 quiescent state to the G1 phase. Under certain conditions, cells exit the cell cycle during G1 and remain in the G0 state as nongrowing, non-dividing (quiescent) cells. Appropriate stimulation of such cells induces them to return to G1 and resume growth and division. The G0 to G1 transition is accompanied by many changes in the program of gene expression. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| negative regulation of Notch signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q00526 | CDK3 | Cyclin-dependent kinase 3 | Homo sapiens (Human) | PR |
| O94921 | CDK14 | Cyclin-dependent kinase 14 | Homo sapiens (Human) | PR |
| Q00537 | CDK17 | Cyclin-dependent kinase 17 | Homo sapiens (Human) | PR |
| Q96Q40 | CDK15 | Cyclin-dependent kinase 15 | Homo sapiens (Human) | PR |
| Q15131 | CDK10 | Cyclin-dependent kinase 10 | Homo sapiens (Human) | PR |
| Q9UQ88 | CDK11A | Cyclin-dependent kinase 11A | Homo sapiens (Human) | PR |
| P49336 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens (Human) | PR |
| Q9BWU1 | CDK19 | Cyclin-dependent kinase 19 | Homo sapiens (Human) | PR |
| P50750 | CDK9 | Cyclin-dependent kinase 9 | Homo sapiens (Human) | PR |
| Q5MAI5 | CDKL4 | Cyclin-dependent kinase-like 4 | Homo sapiens (Human) | PR |
| Q00532 | CDKL1 | Cyclin-dependent kinase-like 1 | Homo sapiens (Human) | PR |
| Q92772 | CDKL2 | Cyclin-dependent kinase-like 2 | Homo sapiens (Human) | PR |
| Q8IZL9 | CDK20 | Cyclin-dependent kinase 20 | Homo sapiens (Human) | PR |
| Q9HC98 | NEK6 | Serine/threonine-protein kinase Nek6 | Homo sapiens (Human) | EV |
| P21127 | CDK11B | Cyclin-dependent kinase 11B | Homo sapiens (Human) | PR |
| O35495 | Cdk14 | Cyclin-dependent kinase 14 | Mus musculus (Mouse) | PR |
| Q8K0D0 | Cdk17 | Cyclin-dependent kinase 17 | Mus musculus (Mouse) | PR |
| Q9ES70 | Nek6 | Serine/threonine-protein kinase Nek6 | Mus musculus (Mouse) | SS |
| O35831 | Cdk17 | Cyclin-dependent kinase 17 | Rattus norvegicus (Rat) | PR |
| Q5Z754 | CDKF-1 | Cyclin-dependent kinase F-1 | Oryza sativa subsp japonica (Rice) | PR |
| Q9S713 | STN7 | Serine/threonine-protein kinase STN7, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A4IIW7 | cdk14 | Cyclin-dependent kinase 14 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q1RLU9 | cdk15 | Cyclin-dependent kinase 15 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDMFQKVEKI | GEGTYGVVYK | AKNRETGQLV | ALKKIRLDLE | MEGVPSTAIR | EISLLKELKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNIVRLLDVV | HNERKLYLVF | EFLSQDLKKY | MDSTPGSELP | LHLIKSYLFQ | LLQGVSFCHS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HRVIHRDLKP | QNLLINELGA | IKLADFGLAR | AFGVPLRTYT | HEVVTLWYRA | PEILLGSKFY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTAVDIWSIG | CIFAEMVTRK | ALFPGDSEID | QLFRIFRMLG | TPSEDTWPGV | TQLPDYKGSF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKWTRKGLEE | IVPNLEPEGR | DLLMQLLQYD | PSQRITAKTA | LAHPYFSSPE | PSPAARQYVL |
| QRFRH |