P45984
SS
Gene name |
MAPK9 (JNK2, PRKM9, SAPK1A) |
Protein name |
Mitogen-activated protein kinase 9 |
Names |
MAP kinase 9 , MAPK 9 , EC 2.7.11.24 , JNK-55 , Stress-activated protein kinase 1a , SAPK1a , Stress-activated protein kinase JNK2 , c-Jun N-terminal kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5601 |
EC number |
2.7.11.24: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
MAPK1 encodes Mitogen-activated protein kinase 1, and is involved in diverse cellular responses by phosphorylating cytoplasmic and nuclear proteins. Unlike other MAP kinases, MAPK1 activates via dual phosphorylation of Thr-186 and Tyr-193 within the activation lip, and mutations at Q105 alone were sufficient for autoactivation. Additionally, in the inactive form, L76, Q10 and I87 form a structural unit that restrains intramolecular autophosphorylation by preventing interactions between activation lip residues and the catalytic base (D149) needed for phosphoryl transfer. Mutations at L76, I87 and additionally S153 increased basal specific activity via autophosphorylation of Thr-186 and Tyr-193.
Autoinhibitory domains (AIDs)
Target domain |
26-321 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
168-190 (Activation loop from InterPro)
Target domain |
26-321 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
168-190 (Activation loop from InterPro)
Target domain |
26-321 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Emrick MA et al. (2006) "The gatekeeper residue controls autoactivation of ERK2 via a pathway of intramolecular connectivity", Proceedings of the National Academy of Sciences of the United States of America, 103, 18101-6
- Emrick MA et al. (2001) "Constitutive activation of extracellular signal-regulated kinase 2 by synergistic point mutations", The Journal of biological chemistry, 276, 46469-79
Autoinhibited structure
Activated structure
245 variants for P45984
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3604173 rs537346074 |
3 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1032947943 CA133164972 |
4 | S>G | No |
ClinGen Ensembl |
|
|
rs140928725 CA3604172 |
4 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778427130 CA3604171 |
6 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA133164958 rs1000085739 |
7 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214078133 CA362486205 |
8 | S>T | No |
ClinGen TOPMed |
|
|
CA3604169 rs551963340 |
11 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78068171 CA3604168 COSM99081 |
12 | S>G | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| VAR_042260 | 13 | V>M | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA362486161 rs1180687457 |
14 | Q>R | No |
ClinGen TOPMed |
|
|
CA133164912 rs975940668 |
15 | V>M | No |
ClinGen TOPMed |
|
|
CA362486149 rs1470867716 |
16 | A>G | No |
ClinGen TOPMed |
|
|
rs1339237372 CA362486127 |
19 | T>I | No |
ClinGen gnomAD |
|
|
CA3604167 rs767823152 |
20 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1448021701 CA362486117 |
21 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750110405 CA3604165 |
22 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA362486107 rs1409605172 |
23 | L>V | No |
ClinGen gnomAD |
|
|
CA3604164 rs376885616 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM245584 CA3604163 rs372942401 COSM245585 |
25 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3604162 rs776486425 |
28 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA133164890 rs1051574696 |
29 | L>P | No |
ClinGen Ensembl |
|
|
rs1020125850 CA133164865 |
31 | P>S | No |
ClinGen TOPMed |
|
|
CA3604160 rs760577314 |
32 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3604161 rs116080193 |
32 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1458961874 CA362486045 |
33 | G>R | No |
ClinGen gnomAD |
|
|
rs775324868 CA3604159 |
34 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038617841 CA133164825 |
39 | I>V | No |
ClinGen Ensembl |
|
|
CA362494112 rs1293713331 |
46 | T>A | No |
ClinGen gnomAD |
|
|
CA362494083 rs1323663455 |
50 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752608660 CA3604121 |
54 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA362494054 rs1444569082 |
55 | K>R | No |
ClinGen gnomAD |
|
| VAR_042261 | 56 | K>N | a head & Neck squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM1436634 COSM1436635 COSM1436636 COSM1436633 rs774268833 CA3604118 |
56 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1180924776 CA362494028 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1417662754 CA362494027 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1250132889 CA362494017 |
61 | F>L | No |
ClinGen gnomAD |
|
|
rs766319622 CA3604117 |
62 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773630890 CA3604115 |
64 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221752065 CA362493980 |
66 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362493943 rs1561829204 |
71 | Y>C | No |
ClinGen Ensembl |
|
|
CA3604086 rs746259385 |
87 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3604084 rs777431876 |
90 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3604083 COSM117792 rs769307274 |
90 | N>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1559712 rs1467855172 COSM1559710 COSM35621 COSM1559711 CA362492669 |
91 | V>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs747877213 CA3604082 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1369026301 CA362492654 |
93 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362492604 rs1175932225 |
97 | T>A | No |
ClinGen gnomAD |
|
| rs1478217248 | 97 | T>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 97 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs191002348 CA133184374 |
99 | E>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 100 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298946373 CA362492547 |
101 | F>C | No |
ClinGen TOPMed |
|
|
CA3604079 rs751489278 |
102 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256714443 CA362492524 |
103 | D>H | No |
ClinGen gnomAD |
|
|
rs771396756 CA3604064 |
107 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3604063 rs368630318 |
108 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1011439894 CA133182801 |
111 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270383416 CA362491620 |
113 | A>T | No |
ClinGen gnomAD |
|
|
CA362491542 rs1194763160 |
115 | L>S | No |
ClinGen gnomAD |
|
|
rs776363014 CA3604062 |
116 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA362491486 rs1581232553 |
118 | V>G | No |
ClinGen Ensembl |
|
|
CA3604061 rs768219020 |
119 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA362491482 rs768219020 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780091264 CA3604059 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226513934 CA362491376 |
126 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA133182785 rs998335661 |
128 | M>T | No |
ClinGen Ensembl |
|
|
rs778557326 CA3604056 |
143 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409507613 CA362491134 |
147 | I>T | No |
ClinGen gnomAD |
|
|
CA362491137 rs1301889358 |
147 | I>V | No |
ClinGen gnomAD |
|
|
CA3604055 rs757088270 |
149 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1561794030 CA362490003 |
157 | I>V | No |
ClinGen Ensembl |
|
|
rs745733211 CA3604039 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3604037 rs756962280 |
164 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA362489927 rs1217976410 |
167 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3604035 rs777590722 |
170 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 173 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3604034 rs756294947 |
174 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3604032 rs767574099 |
178 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751947871 CA3604031 |
179 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751947871 CA3604030 |
179 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3604029 rs766945534 |
180 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3604027 rs773690404 |
181 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA133175172 rs143470209 |
181 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143470209 CA3604028 |
181 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775293436 CA3604024 |
186 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362489789 rs1267517084 |
189 | R>Q | No |
ClinGen TOPMed |
|
|
CA362489774 rs1423718672 |
191 | Y>C | No |
ClinGen gnomAD |
|
|
CA3604023 rs771416686 |
192 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA362489695 rs1443319613 |
203 | K>T | No |
ClinGen gnomAD |
|
|
CA3603951 rs372815961 |
208 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754376954 CA133174182 |
209 | W>S | No |
ClinGen Ensembl |
|
|
CA133174173 rs1035240386 |
210 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746133033 CA3603949 |
215 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369553644 CA3603950 |
215 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3603948 rs137991685 |
217 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA133174155 rs969568433 |
218 | L>Q | No |
ClinGen TOPMed |
|
|
rs1439948651 CA362488878 |
219 | V>M | No |
ClinGen TOPMed |
|
|
CA362488854 rs1380937878 |
220 | K>N | No |
ClinGen gnomAD |
|
|
CA362488839 rs1202129236 |
222 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3603947 rs771191228 |
225 | F>L | No |
ClinGen ExAC |
|
|
rs778148482 CA3603945 |
228 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147368192 CA362488739 |
230 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3603944 rs147368192 |
230 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362488021 rs1409239798 |
240 | Q>H | No |
ClinGen gnomAD |
|
|
CA133171646 rs931706981 |
243 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368426360 CA362487989 |
246 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35421153 CA3603914 |
246 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_042262 rs35421153 CA3603913 |
246 | A>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368426360 CA3603912 |
246 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158858599 CA362487981 |
247 | E>D | No |
ClinGen gnomAD |
|
|
rs763285045 CA3603911 |
249 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362487960 rs1230773114 |
250 | K>R | No |
ClinGen gnomAD |
|
|
CA133171642 rs903908626 |
253 | Q>H | No |
ClinGen Ensembl |
|
|
CA3603910 rs773134465 |
255 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375285768 CA3603909 |
257 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA133171632 rs371678471 |
258 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777139440 CA3603907 |
261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768944763 CA133171609 |
262 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA362487866 rs1405454742 |
264 | P>L | No |
ClinGen TOPMed |
|
|
rs747393469 CA3603905 |
264 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362487864 rs1166040743 |
265 | K>Q | No |
ClinGen TOPMed |
|
|
rs1009532198 CA133171588 |
265 | K>R | No |
ClinGen Ensembl |
|
|
rs866186701 CA133171586 |
267 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
VAR_025175 CA3603904 rs35693958 |
268 | G>A | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1227913697 CA362487836 |
269 | I>T | No |
ClinGen gnomAD |
|
|
CA362487829 rs749032478 |
270 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3603902 rs749032478 |
270 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362487805 rs1351324862 |
273 | E>V | No |
ClinGen TOPMed |
|
|
rs1378453566 CA362487764 |
279 | I>V | No |
ClinGen TOPMed |
|
|
CA362487725 rs1318757002 |
284 | S>F | No |
ClinGen gnomAD |
|
|
COSM172593 rs373601817 CA3603899 COSM172592 |
286 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA362487715 rs1405395167 |
286 | R>Q | No |
ClinGen gnomAD |
|
|
CA362487699 rs1157931756 |
287 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 291 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581170881 CA362487653 |
291 | T>A | No |
ClinGen Ensembl |
|
|
CA362487268 rs1265190747 |
292 | S>G | No |
ClinGen gnomAD |
|
|
CA362487238 rs1410929851 |
294 | A>T | No |
ClinGen gnomAD |
|
|
rs780900586 CA3603877 |
296 | D>A | No |
ClinGen ExAC |
|
|
CA362487160 rs1454933831 |
298 | L>F | No |
ClinGen TOPMed |
|
|
CA362487158 rs1561782568 |
299 | S>P | No |
ClinGen Ensembl |
|
|
CA362487138 rs1216253313 |
301 | M>I | No |
ClinGen gnomAD |
|
|
CA3603874 rs779705113 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3603873 rs758231386 |
307 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3603872 rs750547153 |
308 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA362487089 rs1326204240 |
309 | R>W | No |
ClinGen TOPMed |
|
|
rs765531121 CA3603871 |
312 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992813520 CA133170674 |
314 | E>K | No |
ClinGen Ensembl |
|
|
COSM737487 CA133170663 rs780562313 COSM1150051 COSM737486 |
317 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs376717703 CA3603868 |
317 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780562313 CA133170666 |
317 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1581166483 CA362487032 |
318 | H>P | No |
ClinGen Ensembl |
|
|
rs1184562477 CA362487022 |
320 | Y>H | No |
ClinGen TOPMed |
|
|
rs1245257182 CA362487014 |
321 | I>V | No |
ClinGen gnomAD |
|
|
rs1391808239 CA362487008 |
322 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761154333 CA3603867 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034613831 CA133170657 |
324 | W>R | No |
ClinGen Ensembl |
|
|
CA362486995 rs1483006693 |
324 | W>S | No |
ClinGen gnomAD |
|
|
rs951102336 CA133170656 |
326 | D>A | No |
ClinGen gnomAD |
|
|
rs1305726757 CA362486973 |
327 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3603865 rs767706697 |
327 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1305726757 CA362486974 |
327 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 328 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456235990 CA362486969 |
328 | A>T | No |
ClinGen gnomAD |
|
|
CA362486964 rs1361309771 |
328 | A>V | No |
ClinGen gnomAD |
|
|
rs1395093532 CA362486961 |
329 | E>K | No |
ClinGen gnomAD |
|
|
CA3603863 rs772689390 |
330 | A>G | No |
ClinGen ExAC gnomAD |
|
| rs560961564 | 332 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362486921 rs1229562019 |
333 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA133169974 rs933879926 |
333 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362486915 rs1256664202 |
334 | P>L | No |
ClinGen TOPMed |
|
|
rs1581163660 CA362486914 |
335 | P>S | No |
ClinGen Ensembl |
|
|
CA133169971 rs372230609 |
338 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1190624632 CA362486881 |
339 | D>G | No |
ClinGen TOPMed |
|
|
CA362486871 rs1477874306 |
341 | Q>K | No |
ClinGen TOPMed |
|
|
rs761544523 CA3603841 |
341 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs776439656 CA3603840 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3603839 rs768218980 |
353 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs763418293 CA3603822 |
354 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3603821 rs753506167 |
361 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923443094 CA362486688 |
364 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs923443094 CA133169078 |
364 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3603820 rs114874915 |
365 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1311944200 CA362486675 |
366 | R>G | No |
ClinGen TOPMed |
|
|
VAR_042263 CA3603818 rs55736180 |
366 | R>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs55736180 CA3603819 |
366 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1487358580 CA362486672 |
366 | R>S | No |
ClinGen TOPMed |
|
|
CA362486673 rs55736180 |
366 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300290256 CA362486669 |
367 | S>G | No |
ClinGen gnomAD |
|
|
CA3603817 rs531129203 |
367 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3603816 rs759456800 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3603815 rs774273689 |
368 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA133168979 rs879278946 |
369 | N>H | No |
ClinGen Ensembl |
|
|
CA3603814 rs770672325 |
370 | G>D | No |
ClinGen ExAC |
|
|
rs1263998351 CA362486641 |
371 | V>A | No |
ClinGen TOPMed |
|
|
CA3603790 rs747083644 |
378 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781319821 CA3603809 |
378 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781319821 CA3603810 |
378 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254668835 CA362486553 |
380 | A>V | No |
ClinGen gnomAD |
|
|
CA3603788 rs147124741 |
381 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147124741 CA3603787 |
381 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1292981185 CA362486524 |
384 | N>S | No |
ClinGen gnomAD |
|
|
CA133167918 rs991693051 |
385 | A>T | No |
ClinGen gnomAD |
|
|
rs779359114 CA3603786 |
385 | A>V | No |
ClinGen ExAC |
|
|
CA3603784 rs548387145 |
386 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767097311 CA133167891 |
389 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs980060008 CA133167884 |
392 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1403354533 CA362486469 |
393 | I>M | No |
ClinGen gnomAD |
|
|
rs531472225 CA3603779 |
394 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361483244 CA362486457 |
395 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 395 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429226811 CA362486453 |
396 | I>V | No |
ClinGen TOPMed |
|
|
rs968150047 CA133167815 |
398 | S>T | No |
ClinGen TOPMed |
|
|
rs765017960 CA3603776 |
399 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1258675846 CA362486424 |
400 | S>C | No |
ClinGen Ensembl |
|
|
CA3603775 rs115645812 |
401 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3603774 rs776867044 |
401 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3603773 rs576783254 |
403 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747278411 CA3603772 |
404 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1331412257 CA362486362 |
410 | D>G | No |
ClinGen gnomAD |
|
|
rs746307580 CA3603768 |
411 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214941701 CA362486338 |
413 | L>R | No |
ClinGen TOPMed |
|
|
CA3603766 rs771276478 |
414 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749592487 CA3603765 |
416 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3603764 rs149127216 |
417 | T>M | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746810129 CA133167750 |
421 | E>G | No |
ClinGen Ensembl |
|
|
CA133167745 rs371077278 |
423 | C>Y | No |
ClinGen ESP |
|
|
CA3603761 rs115701296 |
424 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362486275 rs200458599 |
424 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1066754 COSM1595273 CA3603760 rs200458599 |
424 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
No associated diseases with P45984
3 regional properties for P45984
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Heat shock protein 70, conserved site | 9 - 16 | IPR018181-1 |
| conserved_site | Heat shock protein 70, conserved site | 197 - 210 | IPR018181-2 |
| conserved_site | Heat shock protein 70, conserved site | 334 - 348 | IPR018181-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.24 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 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. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| JUN kinase activity | Catalysis of the reaction |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic signaling pathway | The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. |
| cellular response to cadmium ion | 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 cadmium (Cd) ion stimulus. |
| cellular response to reactive oxygen species | 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 reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals. |
| cellular senescence | A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
| Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
| inflammatory response to wounding | The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| positive regulation of apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. |
| positive regulation of cytokine production involved in inflammatory response | Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of macrophage derived foam cell differentiation | Any process that increases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| positive regulation of podosome assembly | Any process that activates or increases the rate or extent of podosome assembly. |
| 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 protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| protein localization to tricellular tight junction | A process in which a protein is transported to, or maintained in, a location within a tricellular tight junction. |
| 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. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
33 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32485 | HOG1 | Mitogen-activated protein kinase HOG1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P79996 | MAPK9 | Mitogen-activated protein kinase 9 | Gallus gallus (Chicken) | PR |
| P20794 | MAK | Serine/threonine-protein kinase MAK | Homo sapiens (Human) | PR |
| Q9UQ07 | MOK | MAPK/MAK/MRK overlapping kinase | Homo sapiens (Human) | PR |
| Q8TD08 | MAPK15 | Mitogen-activated protein kinase 15 | Homo sapiens (Human) | SS |
| P45983 | MAPK8 | Mitogen-activated protein kinase 8 | Homo sapiens (Human) | EV |
| P53779 | MAPK10 | Mitogen-activated protein kinase 10 | Homo sapiens (Human) | EV |
| Q9UBE8 | NLK | Serine/threonine-protein kinase NLK | Homo sapiens (Human) | SS |
| P27361 | MAPK3 | Mitogen-activated protein kinase 3 | Homo sapiens (Human) | SS |
| P28482 | MAPK1 | Mitogen-activated protein kinase 1 | Homo sapiens (Human) | EV |
| P31152 | MAPK4 | Mitogen-activated protein kinase 4 | Homo sapiens (Human) | SS |
| Q16659 | MAPK6 | Mitogen-activated protein kinase 6 | Homo sapiens (Human) | SS |
| Q13164 | MAPK7 | Mitogen-activated protein kinase 7 | Homo sapiens (Human) | SS |
| P53778 | MAPK12 | Mitogen-activated protein kinase 12 | Homo sapiens (Human) | SS |
| O15264 | MAPK13 | Mitogen-activated protein kinase 13 | Homo sapiens (Human) | SS |
| Q15759 | MAPK11 | Mitogen-activated protein kinase 11 | Homo sapiens (Human) | SS |
| Q16539 | MAPK14 | Mitogen-activated protein kinase 14 | Homo sapiens (Human) | SS |
| Q91Y86 | Mapk8 | Mitogen-activated protein kinase 8 | Mus musculus (Mouse) | PR |
| Q9WTU6 | Mapk9 | Mitogen-activated protein kinase 9 | Mus musculus (Mouse) | PR |
| P49186 | Mapk9 | Mitogen-activated protein kinase 9 | Rattus norvegicus (Rat) | PR |
| Q336X9 | MPK6 | Mitogen-activated protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5J4W4 | MPK2 | Mitogen-activated protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q84UI5 | MPK1 | Mitogen-activated protein kinase 1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q10N20 | MPK5 | Mitogen-activated protein kinase 5 | Oryza sativa subsp. japonica (Rice) | SS |
| O44408 | kgb-1 | GLH-binding kinase 1 | Caenorhabditis elegans | PR |
| Q39023 | MPK3 | Mitogen-activated protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39026 | MPK6 | Mitogen-activated protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39025 | MPK5 | Mitogen-activated protein kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39024 | MPK4 | Mitogen-activated protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M1Z5 | MPK10 | Mitogen-activated protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q8GYQ5 | MPK12 | Mitogen-activated protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LMM5 | MPK11 | Mitogen-activated protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LQQ9 | MPK13 | Mitogen-activated protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDSKCDSQF | YSVQVADSTF | TVLKRYQQLK | PIGSGAQGIV | CAAFDTVLGI | NVAVKKLSRP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FQNQTHAKRA | YRELVLLKCV | NHKNIISLLN | VFTPQKTLEE | FQDVYLVMEL | MDANLCQVIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MELDHERMSY | LLYQMLCGIK | HLHSAGIIHR | DLKPSNIVVK | SDCTLKILDF | GLARTACTNF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MMTPYVVTRY | YRAPEVILGM | GYKENVDIWS | VGCIMGELVK | GCVIFQGTDH | IDQWNKVIEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGTPSAEFMK | KLQPTVRNYV | ENRPKYPGIK | FEELFPDWIF | PSESERDKIK | TSQARDLLSK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLVIDPDKRI | SVDEALRHPY | ITVWYDPAEA | EAPPPQIYDA | QLEEREHAIE | EWKELIYKEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MDWEERSKNG | VVKDQPSDAA | VSSNATPSQS | SSINDISSMS | TEQTLASDTD | SSLDASTGPL |
| EGCR |