P49674
EV
Gene name |
CSNK1E |
Protein name |
Casein kinase I isoform epsilon |
Names |
CKI-epsilon, CKIe |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1454 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
CASEIN KINASE-RELATED (PTHR11909) |
Descriptions
Casein kinase I epsilon (CSNK1E) is a member of CKI family and is involved in signaling, circadian clock, DNA repair, and metabolism. The tail of autophosphorylated CKIε interacts with the kinase domain and blocks the active site. Proteolytic lysis of the C-terminal region relieves autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
9-287 (Protein kinase domain) |
Relief mechanism |
Cleavage, PTM |
Assay |
Deletion assay |
Accessory elements
148-178 (Activation loop from InterPro)
Target domain |
9-287 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for P49674
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4HNI | X-ray | 274 A | A/B | 1-294 | PDB |
| 4HOK | X-ray | 277 A | A/C/E/G/I/K/M/O/Q/S/U/W | 1-294 | PDB |
| AF-P49674-F1 | Predicted | AlphaFoldDB |
305 variants for P49674
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA411528802 rs1555909208 |
2 | E>* | No |
ClinGen Ensembl |
|
|
CA324218343 rs770165554 |
2 | E>D | No |
ClinGen TOPMed |
|
|
COSM1249328 COSM1249329 rs1419174372 COSM1249330 CA411528790 |
4 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs373100204 CA10232405 |
4 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411528789 rs373100204 |
4 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373100204 CA10232404 |
4 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324218331 rs914378333 |
7 | N>S | No |
ClinGen Ensembl |
|
|
rs931199459 CA411528768 |
8 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs931199459 CA324218330 |
8 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773976199 CA324218297 |
10 | R>C | No |
ClinGen Ensembl |
|
|
CA411528744 rs1555909205 |
12 | G>* | No |
ClinGen Ensembl |
|
|
CA10232400 rs749970868 |
13 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324218270 rs370329105 |
13 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1555909202 CA411528733 |
14 | K>* | No |
ClinGen Ensembl |
|
|
CA10232399 rs377709817 |
15 | I>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA411528721 rs1273645499 |
16 | G>R | No |
ClinGen gnomAD |
|
|
CA411528714 rs1166067376 |
17 | S>G | No |
ClinGen gnomAD |
|
|
rs768049492 CA10232396 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA411528687 rs990406832 |
21 | G>* | No |
ClinGen TOPMed |
|
|
CA324218192 rs990406832 |
21 | G>R | No |
ClinGen TOPMed |
|
|
rs1393429180 CA411528680 |
22 | D>A | No |
ClinGen gnomAD |
|
|
CA411528671 rs1569084268 |
23 | I>T | No |
ClinGen Ensembl |
|
|
CA324208562 rs1004181127 |
26 | G>D | No |
ClinGen Ensembl |
|
|
CA411527722 rs1435444709 |
27 | A>V | No |
ClinGen gnomAD |
|
|
rs373227577 CA10232376 |
28 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1027024602 CA324208540 |
30 | A>T | No |
ClinGen Ensembl |
|
|
CA411527682 rs1364784754 |
30 | A>V | No |
ClinGen gnomAD |
|
|
rs765387230 CA10232373 |
32 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1555908238 CA411527655 |
33 | E>* | No |
ClinGen Ensembl |
|
|
CA411527643 rs1555908236 |
34 | E>* | No |
ClinGen Ensembl |
|
|
rs1187975483 CA411527618 |
36 | A>T | No |
ClinGen gnomAD |
|
|
CA411527565 rs1555908231 |
40 | E>* | No |
ClinGen Ensembl |
|
|
CA411527526 rs1555908228 |
43 | K>* | No |
ClinGen Ensembl |
|
|
rs1351103388 CA411527512 |
44 | T>A | No |
ClinGen gnomAD |
|
|
rs1199756550 CA411527464 |
47 | P>L | No |
ClinGen Ensembl |
|
|
CA411527472 rs1231264759 |
47 | P>T | No |
ClinGen gnomAD |
|
|
rs1555908222 CA411527461 |
48 | Q>* | No |
ClinGen Ensembl |
|
|
rs1402701324 CA411527409 |
52 | E>* | No |
ClinGen gnomAD |
|
|
CA411527408 rs1402701324 |
52 | E>K | No |
ClinGen gnomAD |
|
|
rs1555908215 CA411527380 |
54 | K>* | No |
ClinGen Ensembl |
|
|
rs867024599 CA324208504 |
54 | K>R | No |
ClinGen Ensembl |
|
|
rs1555908213 CA411527340 |
57 | K>* | No |
ClinGen Ensembl |
|
|
CA411527301 rs1385987160 |
59 | M>I | No |
ClinGen gnomAD |
|
|
rs1555908211 CA411527295 |
60 | Q>* | No |
ClinGen Ensembl |
|
|
CA411527260 rs1460216619 |
63 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA411527154 rs1455272021 |
66 | P>L | No |
ClinGen gnomAD |
|
|
CA411527153 rs1455272021 |
66 | P>R | No |
ClinGen gnomAD |
|
|
rs1171325581 CA411527158 |
66 | P>S | No |
ClinGen gnomAD |
|
|
rs1176351448 CA411527143 |
67 | S>C | No |
ClinGen gnomAD |
|
|
rs1555908158 CA411527125 |
69 | K>* | No |
ClinGen Ensembl |
|
|
rs767381747 CA10232324 |
69 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555908155 CA411527104 |
70 | W>* | No |
ClinGen Ensembl |
|
|
rs1555908154 CA411527091 |
70 | W>* | No |
ClinGen Ensembl |
|
|
rs571239023 CA411527065 |
71 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555908149 CA411527056 |
72 | G>* | No |
ClinGen Ensembl |
|
|
rs1555908148 CA411527036 |
74 | E>* | No |
ClinGen Ensembl |
|
|
rs1385396213 CA411526972 |
78 | N>D | No |
ClinGen TOPMed |
|
|
rs1555908133 CA411526903 |
83 | E>* | No |
ClinGen Ensembl |
|
|
rs1555908130 CA411526816 |
90 | E>* | No |
ClinGen Ensembl |
|
|
CA411526726 rs1371700390 |
96 | C>* | No |
ClinGen gnomAD |
|
|
rs2092680707 RCV001194643 |
96 | C>F | No |
ClinVar dbSNP |
|
|
rs769423330 CA411526707 |
98 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM419552 COSM419550 rs868029992 CA324208218 COSM419551 |
98 | R>H | lung kidney urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA411526701 rs868029992 |
98 | R>L | No |
ClinGen gnomAD |
|
|
rs769423330 CA10232318 |
98 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355415615 CA411526699 |
99 | K>* | No |
ClinGen gnomAD |
|
|
rs1355415615 CA411526697 |
99 | K>Q | No |
ClinGen gnomAD |
|
|
rs761261951 CA10232317 |
101 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA411526641 rs1436055057 |
102 | L>R | No |
ClinGen gnomAD |
|
|
rs1555908122 CA411526634 |
103 | K>* | No |
ClinGen Ensembl |
|
|
CA411526569 rs1555908118 |
108 | L>* | No |
ClinGen Ensembl |
|
|
CA411526549 rs1322444471 |
110 | D>N | No |
ClinGen gnomAD |
|
|
CA411526529 rs1555908110 |
111 | Q>* | No |
ClinGen Ensembl |
|
|
rs1602548873 CA411525664 |
113 | I>T | No |
ClinGen Ensembl |
|
|
CA10232282 rs750236782 |
115 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM478962 COSM478960 rs1555907891 CA411525613 COSM478961 |
117 | E>* | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1363566234 CA411525555 |
121 | S>T | No |
ClinGen gnomAD |
|
|
rs1392098986 CA411525497 |
124 | F>L | No |
ClinGen gnomAD |
|
|
CA411525483 rs1602548809 |
125 | I>M | No |
ClinGen Ensembl |
|
|
rs1555907886 CA411525422 |
130 | K>* | No |
ClinGen Ensembl |
|
|
CA411525403 rs1169754176 |
131 | P>R | No |
ClinGen gnomAD |
|
|
CA10232276 rs760181596 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411525394 rs1392249109 |
132 | D>N | No |
ClinGen gnomAD |
|
|
COSM1661312 CA411525372 rs1189518541 COSM1661313 COSM1661314 |
133 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA411525336 rs1488021617 |
136 | M>T | No |
ClinGen gnomAD |
|
|
rs763492227 CA10232273 |
137 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA411525320 rs1399796111 |
139 | G>R | No |
ClinGen Ensembl |
|
|
CA411525313 rs1555907878 |
140 | K>* | No |
ClinGen Ensembl |
|
|
CA411525311 rs1201747282 |
140 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411525305 rs1555907877 |
141 | K>* | No |
ClinGen Ensembl |
|
|
CA10232270 rs748408047 |
143 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387147546 CA411525237 |
151 | G>S | No |
ClinGen gnomAD |
|
|
rs1555907870 CA411525218 |
154 | K>* | No |
ClinGen Ensembl |
|
|
rs1555907868 CA411525210 |
155 | K>* | No |
ClinGen Ensembl |
|
|
rs1440128766 CA411525195 |
157 | R>W | No |
ClinGen TOPMed |
|
|
CA324206598 rs267606247 |
158 | D>N | No |
ClinGen Ensembl |
|
|
CA411525184 rs1460517436 |
159 | A>T | No |
ClinGen gnomAD |
|
|
CA10232263 rs778628868 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757088449 CA10232262 |
160 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411525176 rs1230602951 |
160 | R>H | No |
ClinGen TOPMed |
|
|
rs1602548595 CA411525174 |
161 | T>P | No |
ClinGen Ensembl |
|
|
CA411525158 rs1555907863 |
163 | Q>* | No |
ClinGen Ensembl |
|
|
CA411525146 rs367981270 |
164 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411525143 rs1201390636 |
165 | I>F | No |
ClinGen gnomAD |
|
|
CA411525116 rs1555907858 |
169 | E>* | No |
ClinGen Ensembl |
|
|
rs199753801 COSM1416237 COSM1416238 CA324206561 COSM1416239 |
172 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA324206558 rs1038349955 |
178 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1209553878 CA411524994 |
178 | R>H | No |
ClinGen gnomAD |
|
|
rs1426893077 CA411524947 |
182 | I>T | No |
ClinGen TOPMed |
|
|
rs1282023622 CA411524941 |
183 | N>S | No |
ClinGen gnomAD |
|
|
rs750956278 CA10232255 |
186 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411524553 rs1555907791 |
190 | Q>* | No |
ClinGen Ensembl |
|
|
rs1476281351 CA411524533 |
193 | R>* | No |
ClinGen gnomAD |
|
|
rs752339218 CA10232240 |
193 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411524506 rs1555907785 |
197 | E>* | No |
ClinGen Ensembl |
|
|
CA411524471 rs1187676610 |
202 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1187676610 CA411524472 |
202 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754690883 CA10232238 |
205 | Y>* | No |
ClinGen ExAC |
|
|
rs1446016984 CA411524448 |
205 | Y>C | No |
ClinGen gnomAD |
|
|
CA411524431 rs1191826711 |
207 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411524432 rs1191826711 |
207 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1602547560 CA411524426 |
208 | L>R | No |
ClinGen Ensembl |
|
|
rs1210291809 CA411524427 |
208 | L>V | No |
ClinGen gnomAD |
|
|
CA10232236 rs750997703 |
210 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA920368176 rs1569077633 |
210 | S>C | No |
ClinGen Ensembl |
|
|
CA411524393 rs1555907771 |
213 | W>* | No |
ClinGen Ensembl |
|
|
rs1555907773 CA411524398 |
213 | W>* | No |
ClinGen Ensembl |
|
|
CA411524390 rs1555907769 |
214 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555907768 CA411524370 |
217 | K>* | No |
ClinGen Ensembl |
|
|
rs1231433453 CA411524367 |
217 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411524368 rs1231433453 |
217 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411524344 rs1555907766 |
221 | K>* | No |
ClinGen Ensembl |
|
|
rs1555907764 CA411524330 |
223 | Q>* | No |
ClinGen Ensembl |
|
|
rs754296072 CA10232233 |
223 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA411524323 rs1555907763 |
224 | K>* | No |
ClinGen Ensembl |
|
|
CA411524309 rs1555907762 |
226 | E>* | No |
ClinGen Ensembl |
|
|
CA411524299 COSM1416234 rs1437706160 COSM1416236 COSM1416235 |
227 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA411524300 rs1316580394 |
227 | R>W | No |
ClinGen gnomAD |
|
|
CA411524284 rs1258386311 |
229 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1555907759 CA411524279 |
230 | E>* | No |
ClinGen Ensembl |
|
|
rs1555907754 CA411524271 |
231 | K>* | No |
ClinGen Ensembl |
|
|
rs1555907750 CA411524263 |
232 | K>* | No |
ClinGen Ensembl |
|
|
rs775792943 CA10232229 |
235 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1471504 COSM1471502 rs1474798176 COSM1471503 CA411524238 |
235 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs759692009 CA10232227 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555907747 CA411524223 |
238 | E>* | No |
ClinGen Ensembl |
|
|
COSM319721 COSM319720 rs555620365 CA10232225 COSM319719 |
238 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM319721 COSM319720 CA324206081 rs555620365 COSM319719 |
238 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1555907745 CA411524201 |
241 | C>* | No |
ClinGen Ensembl |
|
|
CA411524197 rs1555907743 |
242 | K>* | No |
ClinGen Ensembl |
|
|
rs749189607 CA10232224 |
243 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290507389 CA411524178 |
245 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411524109 rs1555907629 |
247 | E>* | No |
ClinGen Ensembl |
|
|
CA10232187 rs773231362 |
251 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA411524046 rs1602545910 |
251 | Y>S | No |
ClinGen Ensembl |
|
|
rs1223607526 CA411523991 |
254 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1602545904 CA411523997 |
254 | F>S | No |
ClinGen Ensembl |
|
|
rs140207222 CA10232186 |
256 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1290818158 CA411523960 |
257 | S>A | No |
ClinGen gnomAD |
|
|
rs147138271 CA10232185 |
259 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1320429916 CA411523927 |
260 | F>Y | No |
ClinGen TOPMed |
|
|
CA411523823 rs1395260062 |
267 | S>A | No |
ClinGen Ensembl |
|
|
rs1414072863 CA411523799 |
269 | L>V | No |
ClinGen gnomAD |
|
|
rs775283367 CA324204876 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10232181 rs775283367 |
270 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411523788 rs1227011047 |
270 | R>H | No |
ClinGen TOPMed |
|
|
CA411523778 rs1555907611 |
271 | Q>* | No |
ClinGen Ensembl |
|
|
rs771808437 COSM444993 CA10232180 COSM444992 COSM444994 |
274 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745393003 CA10232179 |
276 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1238270529 CA411523681 |
278 | H>L | No |
ClinGen gnomAD |
|
|
rs536663704 CA411523671 |
279 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536663704 CA10232177 |
279 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555907601 CA411523667 |
280 | Q>* | No |
ClinGen Ensembl |
|
|
CA10232175 rs781661963 |
286 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555907593 CA411523542 |
290 | W>* | No |
ClinGen Ensembl |
|
|
rs1555907594 CA411523550 |
290 | W>* | No |
ClinGen Ensembl |
|
|
rs750427377 CA10232173 |
292 | M>L | No |
ClinGen ExAC |
|
|
CA10232172 rs372970699 |
292 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411523504 rs1555907591 |
294 | K>* | No |
ClinGen Ensembl |
|
|
CA10232066 rs746997927 |
297 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1271020320 CA411522561 |
297 | A>V | No |
ClinGen gnomAD |
|
|
CA411522558 rs1413337449 |
298 | A>S | No |
ClinGen gnomAD |
|
|
CA10232064 rs780074984 |
299 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411522553 rs1569075054 |
299 | R>W | No |
ClinGen Ensembl |
|
|
CA324201602 rs866166173 |
302 | E>* | No |
ClinGen gnomAD |
|
|
rs866166173 CA324201605 |
302 | E>K | No |
ClinGen gnomAD |
|
|
CA411522524 rs1401885854 |
303 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1364552136 CA411522525 |
303 | D>V | No |
ClinGen TOPMed |
|
|
CA10232062 rs745723056 |
306 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411522506 rs1042229656 |
306 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1042229656 CA324201600 |
306 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745723056 CA411522508 |
306 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411522504 rs778644621 |
307 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs778644621 CA10232061 |
307 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA324201598 rs756966866 |
308 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10232060 rs756966866 |
308 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470583169 CA411522497 |
308 | R>W | No |
ClinGen TOPMed |
|
|
COSM252455 COSM252454 CA10232059 rs753471965 COSM252456 |
309 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs923008360 CA324201596 |
309 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777349376 CA10232058 |
310 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1432647588 CA411522476 |
311 | H>Y | No |
ClinGen gnomAD |
|
|
rs752107236 CA10232056 |
313 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10232055 rs766929384 |
313 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10232052 rs765684456 |
317 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224042683 CA411522398 |
317 | M>T | No |
ClinGen TOPMed |
|
|
CA411522383 rs1386113064 |
318 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA411522374 rs909473147 |
319 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA324201536 rs909473147 |
319 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777001542 CA10232050 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762210737 CA10232051 |
321 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764185831 CA10232049 |
322 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs572744706 CA10232047 |
324 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772085558 CA10232046 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411522323 rs1371793977 |
325 | T>A | No |
ClinGen TOPMed |
|
|
CA411522318 rs1225895690 |
325 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373719442 CA324201513 |
326 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373719442 CA10232043 |
326 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386094264 CA411522306 |
327 | A>T | No |
ClinGen gnomAD |
|
|
CA10232042 rs777434333 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777434333 CA10232041 |
329 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs747740442 CA10232040 |
330 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747740442 CA10232039 |
330 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs981570289 CA324201503 |
330 | P>S | No |
ClinGen TOPMed |
|
|
CA411522253 rs1428197026 |
333 | P>T | No |
ClinGen gnomAD |
|
|
COSM1202498 CA411522237 rs1375092408 COSM1202499 COSM1202500 |
334 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs759002875 CA10232037 |
336 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA411522216 rs1305628958 |
337 | T>A | No |
ClinGen TOPMed |
|
|
CA411522193 rs1569074916 |
340 | R>Q | No |
ClinGen Ensembl |
|
|
rs750981124 CA10232036 |
340 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200940381 CA411522182 |
342 | R>C | No |
ClinGen gnomAD |
|
|
rs765772548 CA10232035 |
342 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765772548 CA411522181 |
342 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10232033 rs369141815 |
343 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940820496 CA324201481 |
345 | A>T | No |
ClinGen gnomAD |
|
|
rs1310357040 CA411522161 |
346 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775703068 CA10232030 |
348 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902426890 CA324201466 |
349 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs970049983 CA324201469 |
349 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs970049983 CA324201470 |
349 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs902426890 CA411522140 |
349 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759550035 CA10232028 |
351 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364524629 CA411522122 |
353 | A>T | No |
ClinGen TOPMed |
|
|
CA411522112 rs1458102262 |
354 | S>F | No |
ClinGen TOPMed |
|
|
rs1357921627 CA411522108 |
355 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs992230340 CA324201456 |
355 | R>H | No |
ClinGen gnomAD |
|
|
rs200714722 CA10232026 |
358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933107003 CA324201454 |
358 | P>S | No |
ClinGen TOPMed |
|
|
rs768378300 CA10232002 |
360 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA324201302 rs768378300 |
360 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10232000 rs554602860 |
361 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs901866973 CA411522052 |
362 | T>I | No |
ClinGen TOPMed |
|
|
CA324201288 rs901866973 |
362 | T>S | No |
ClinGen TOPMed |
|
|
CA411521716 rs1555907028 |
365 | R>* | No |
ClinGen Ensembl |
|
|
CA411521680 rs749796700 |
368 | S>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1416232 COSM1416231 rs749796700 CA10231997 COSM1416233 |
368 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753064501 CA411521670 |
369 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10231994 rs753064501 |
369 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756435541 CA10231995 |
369 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs991617692 CA324201277 |
370 | V>D | No |
ClinGen TOPMed |
|
|
CA10231993 rs781292390 |
370 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs991617692 CA411521666 |
370 | V>G | No |
ClinGen TOPMed |
|
|
rs1195300993 CA411521657 |
371 | D>E | No |
ClinGen gnomAD |
|
|
CA10231991 rs769669381 |
371 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1262464920 CA411521651 |
372 | R>Q | No |
ClinGen gnomAD |
|
|
CA411521654 rs1447536764 |
372 | R>W | No |
ClinGen gnomAD |
|
|
rs1555907021 CA411521643 |
373 | E>* | No |
ClinGen Ensembl |
|
|
CA411521599 rs1602539518 |
376 | V>G | No |
ClinGen Ensembl |
|
|
CA411521576 rs766435151 |
377 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs957667794 CA324201261 |
381 | H>Q | No |
ClinGen TOPMed |
|
|
CA10231989 rs762965264 |
381 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA411521499 rs1341961890 |
382 | R>K | No |
ClinGen gnomAD |
|
|
CA411521471 rs1239848442 |
383 | G>D | No |
ClinGen gnomAD |
|
|
rs200745813 CA10231988 |
384 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA324201237 rs752029097 |
386 | A>T | No |
ClinGen Ensembl |
|
|
CA411521434 rs1384630988 |
387 | N>Y | No |
ClinGen gnomAD |
|
|
CA10231985 rs776468736 |
388 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411521406 rs1388037223 |
389 | S>F | No |
ClinGen gnomAD |
|
|
CA10231984 rs371265489 |
390 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs992450390 CA324201221 |
390 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1489892465 CA411521354 |
394 | T>A | No |
ClinGen gnomAD |
|
|
CA411521350 rs1569074624 |
394 | T>I | No |
ClinGen Ensembl |
|
|
rs371763832 CA324201190 |
395 | G>E | No |
ClinGen ESP |
|
|
rs771718491 CA10231981 |
396 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534849036 CA324201184 |
396 | R>W | No |
ClinGen gnomAD |
|
|
rs1271239791 CA411521325 |
397 | Q>E | No |
ClinGen gnomAD |
|
|
CA10231980 rs745306114 |
399 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA411521291 rs745306114 |
399 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA411521285 rs1396022901 |
400 | S>C | No |
ClinGen gnomAD |
|
|
rs770285198 CA10231978 |
401 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10231979 rs778170734 |
401 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10231977 rs748510236 |
402 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137966537 COSM580026 COSM580025 CA10231976 COSM580027 |
403 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA411521256 rs1330570659 |
404 | A>T | No |
ClinGen gnomAD |
|
|
rs1555906992 CA411521234 |
406 | Q>* | No |
ClinGen Ensembl |
|
|
rs1343456803 CA411521579 |
408 | S>G | No |
ClinGen gnomAD |
|
|
CA10231948 rs77945315 |
408 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1012714708 CA324240888 |
409 | V>M | No |
ClinGen gnomAD |
|
|
rs757203185 CA10231946 |
410 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1409199773 CA411521562 |
410 | P>S | No |
ClinGen TOPMed |
|
|
CA324240878 rs910487898 |
412 | D>Y | No |
ClinGen TOPMed |
|
|
CA10231945 VAR_042083 rs35665927 |
413 | H>R | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1559606 rs756000157 COSM1559605 COSM35426 CA10231943 |
415 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411521508 COSM1559606 rs756000157 COSM1559605 COSM35426 |
415 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411521501 rs1243277331 |
415 | G>V | No |
ClinGen gnomAD |
|
|
CA411521496 rs1555906881 |
416 | K>* | No |
ClinGen Ensembl |
No associated diseases with P49674
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11909 | CASEIN KINASE-RELATED |
| PANTHER Subfamily | PTHR11909:SF428 | CASEIN KINASE I ISOFORM EPSILON |
| PANTHER Protein Class | non-receptor serine/threonine protein kinase | |
| PANTHER Pathway Category |
Wnt signaling pathway Casein Kinase 1 CCKR signaling map CK1delta/epsilon Hedgehog signaling pathway Casein kinase I Circadian clock system Casein kinase I Parkinson disease Casein kinase I |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of non-canonical Wnt signaling pathway | Any process that activates or increases the frequency, rate or extent of non-canonical Wnt-activated signaling pathway. |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation | Any process that activates or increases the frequency, rate or extent of Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| 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. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P29295 | HRR25 | Casein kinase I homolog HRR25 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P35508 | CSNK1D | Casein kinase I isoform delta | Bos taurus (Bovine) | SS |
| Q5ZLL1 | CSNK1E | Casein kinase I isoform epsilon | Gallus gallus (Chicken) | SS |
| P48730 | CSNK1D | Casein kinase I isoform delta | Homo sapiens (Human) | SS |
| Q86Y07 | VRK2 | Serine/threonine-protein kinase VRK2 | Homo sapiens (Human) | PR |
| O00311 | CDC7 | Cell division cycle 7-related protein kinase | Homo sapiens (Human) | PR |
| Q8BN21 | Vrk2 | Serine/threonine-protein kinase VRK2 | Mus musculus (Mouse) | PR |
| Q9DC28 | Csnk1d | Casein kinase I isoform delta | Mus musculus (Mouse) | PR |
| Q9JMK2 | Csnk1e | Casein kinase I isoform epsilon | Mus musculus (Mouse) | SS |
| Q06486 | Csnk1d | Casein kinase I isoform delta | Rattus norvegicus (Rat) | PR |
| P42169 | C03C10.2 | Putative casein kinase I C03C10.2 | Caenorhabditis elegans | PR |
| P34516 | K06H7.8 | Putative serine/threonine-protein kinase K06H7.1 | Caenorhabditis elegans | PR |
| Q6P647 | csnk1d | Casein kinase I isoform delta | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q7T2E3 | csnk1da | Casein kinase I isoform delta-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q7ZUS1 | vrk1 | Serine/threonine-protein kinase VRK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6P3K7 | csnk1db | Casein kinase I isoform delta-B | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELRVGNKYR | LGRKIGSGSF | GDIYLGANIA | SGEEVAIKLE | CVKTKHPQLH | IESKFYKMMQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGVGIPSIKW | CGAEGDYNVM | VMELLGPSLE | DLFNFCSRKF | SLKTVLLLAD | QMISRIEYIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKNFIHRDVK | PDNFLMGLGK | KGNLVYIIDF | GLAKKYRDAR | THQHIPYREN | KNLTGTARYA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SINTHLGIEQ | SRRDDLESLG | YVLMYFNLGS | LPWQGLKAAT | KRQKYERISE | KKMSTPIEVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CKGYPSEFST | YLNFCRSLRF | DDKPDYSYLR | QLFRNLFHRQ | GFSYDYVFDW | NMLKFGAARN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PEDVDRERRE | HEREERMGQL | RGSATRALPP | GPPTGATANR | LRSAAEPVAS | TPASRIQPAG |
| 370 | 380 | 390 | 400 | 410 | |
| NTSPRAISRV | DRERKVSMRL | HRGAPANVSS | SDLTGRQEVS | RIPASQTSVP | FDHLGK |