P53779
EV
Gene name |
MAPK10 (JNK3, JNK3A, PRKM10, SAPK1B) |
Protein name |
Mitogen-activated protein kinase 10 |
Names |
MAP kinase 10 , MAPK 10 , EC 2.7.11.24 , MAP kinase p49 3F12 , Stress-activated protein kinase 1b , SAPK1b , Stress-activated protein kinase JNK3 , c-Jun N-terminal kinase 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5602 |
EC number |
2.7.11.24: Protein-serine/threonine kinases |
Protein Class |
MITOGEN-ACTIVATED PROTEIN KINASE (PTHR24055) |
Descriptions
JNK3 is a member of the mitogen-activated protein kinase (MAPK) family, involved in regulating insulin signaling, cell fate, DNA repair, and T cell differentiation. It undergoes autoinhibition through peptide-induced interlobe opening and rotation, moving αC out of the catalytic site and allowing the activation loop to form an inhibitory helix blocking the ATP binding site of JNK3’s kinase domain. Autoinhibition is relieved by phosphorylation of the activation loop.
Autoinhibitory domains (AIDs)
Accessory elements
206-216 (Activation loop from InterPro)
Target domain |
64-359 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Mutagenesis experiment |
220-228 (Activation loop from InterPro)
Target domain |
64-359 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Mutagenesis experiment |
Autoinhibited structure
Activated structure
62 structures for P53779
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JNK | X-ray | 230 A | A | 1-423 | PDB |
| 1PMN | X-ray | 220 A | A | 40-401 | PDB |
| 1PMU | X-ray | 270 A | A | 40-401 | PDB |
| 1PMV | X-ray | 250 A | A | 40-401 | PDB |
| 2B1P | X-ray | 190 A | A | 46-400 | PDB |
| 2EXC | X-ray | 275 A | X | 45-400 | PDB |
| 2O0U | X-ray | 210 A | A | 39-402 | PDB |
| 2O2U | X-ray | 245 A | A | 39-402 | PDB |
| 2OK1 | X-ray | 240 A | A | 40-402 | PDB |
| 2P33 | X-ray | 240 A | A | 40-402 | PDB |
| 2R9S | X-ray | 240 A | A/B | 46-401 | PDB |
| 2WAJ | X-ray | 240 A | A | 39-402 | PDB |
| 2ZDT | X-ray | 200 A | A | 39-402 | PDB |
| 2ZDU | X-ray | 250 A | A | 39-402 | PDB |
| 3CGF | X-ray | 300 A | A | 40-402 | PDB |
| 3CGO | X-ray | 300 A | A | 40-402 | PDB |
| 3DA6 | X-ray | 200 A | A | 39-402 | PDB |
| 3FI2 | X-ray | 228 A | A | 39-402 | PDB |
| 3FI3 | X-ray | 220 A | A | 39-402 | PDB |
| 3FV8 | X-ray | 228 A | A | 39-402 | PDB |
| 3G90 | X-ray | 240 A | X | 40-402 | PDB |
| 3G9L | X-ray | 220 A | X | 40-402 | PDB |
| 3G9N | X-ray | 280 A | A | 40-402 | PDB |
| 3KVX | X-ray | 240 A | A | 39-402 | PDB |
| 3OXI | X-ray | 220 A | A | 40-401 | PDB |
| 3OY1 | X-ray | 170 A | A | 40-401 | PDB |
| 3PTG | X-ray | 243 A | A | 40-401 | PDB |
| 3RTP | X-ray | 240 A | A | 40-401 | PDB |
| 3TTI | X-ray | 220 A | A | 1-464 | PDB |
| 3TTJ | X-ray | 210 A | A | 1-464 | PDB |
| 3V6R | X-ray | 260 A | A/B | 39-402 | PDB |
| 3V6S | X-ray | 297 A | A/B | 39-402 | PDB |
| 4H36 | X-ray | 300 A | A | 45-400 | PDB |
| 4H39 | X-ray | 199 A | A | 45-400 | PDB |
| 4H3B | X-ray | 208 A | A/C | 45-400 | PDB |
| 4KKE | X-ray | 220 A | A | 40-402 | PDB |
| 4KKG | X-ray | 240 A | A | 40-402 | PDB |
| 4KKH | X-ray | 200 A | A | 40-402 | PDB |
| 4U79 | X-ray | 223 A | A | 39-402 | PDB |
| 4W4V | X-ray | 201 A | A | 39-402 | PDB |
| 4W4W | X-ray | 190 A | A | 39-402 | PDB |
| 4W4X | X-ray | 265 A | A | 39-402 | PDB |
| 4W4Y | X-ray | 230 A | A | 39-402 | PDB |
| 4WHZ | X-ray | 179 A | A | 39-423 | PDB |
| 4X21 | X-ray | 195 A | A/B | 39-402 | PDB |
| 4Y46 | X-ray | 204 A | A | 39-402 | PDB |
| 4Y5H | X-ray | 206 A | A | 39-402 | PDB |
| 4Z9L | X-ray | 210 A | A | 40-401 | PDB |
| 6EKD | X-ray | 210 A | A | 39-402 | PDB |
| 6EMH | X-ray | 176 A | A/B/C/D | 39-402 | PDB |
| 6EQ9 | X-ray | 183 A | A/B | 39-402 | PDB |
| 7KSI | X-ray | 173 A | A | 1-464 | PDB |
| 7KSJ | X-ray | 206 A | A | 1-464 | PDB |
| 7KSK | X-ray | 184 A | A | 1-464 | PDB |
| 7ORE | X-ray | 218 A | A | 39-402 | PDB |
| 7ORF | X-ray | 170 A | A | 39-402 | PDB |
| 7S1N | X-ray | 211 A | A | 1-464 | PDB |
| 7YL1 | X-ray | 248 A | A | 1-464 | PDB |
| 8BZP | X-ray | 186 A | A/B | 39-402 | PDB |
| 8ENJ | X-ray | 281 A | A | 1-464 | PDB |
| 8WGF | X-ray | 185 A | A | 39-402 | PDB |
| AF-P53779-F1 | Predicted | AlphaFoldDB |
267 variants for P53779
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000149341 CA174818 rs193921096 |
424 | S>N | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| rs2149316504 | 2 | S>N | No | Ensembl | |
| rs762893002 | 4 | H>R | No |
ExAC gnomAD |
|
|
CA207837 RCV000193982 rs141835386 |
7 | Y>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1286031922 | 7 | Y>C | No | gnomAD | |
| rs770222842 | 7 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs377041755 | 9 | C>R | No | ESP | |
| rs1335810979 | 10 | S>R | No |
TOPMed gnomAD |
|
| rs776969907 | 12 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs139986995 | 13 | T>I | No |
ESP ExAC gnomAD |
|
| rs778475490 | 14 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs747803325 | 14 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs537570565 | 16 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs146056714 | 21 | C>S | No |
ESP ExAC gnomAD |
|
| rs146056714 | 21 | C>Y | No |
ESP ExAC gnomAD |
|
| rs745779201 | 25 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs745779201 | 25 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs780943807 | 28 | V>M | No |
ExAC gnomAD |
|
| rs1177409315 | 29 | D>A | No | TOPMed | |
| rs2149229011 | 29 | D>E | No | Ensembl | |
| rs757250013 | 29 | D>N | No |
ExAC gnomAD |
|
| rs971142530 | 32 | Y>F | No |
TOPMed gnomAD |
|
| rs763967346 | 36 | H>R | No |
ExAC gnomAD |
|
| rs1423028706 | 37 | Y>F | No | gnomAD | |
| rs758538326 | 40 | S>R | No |
ExAC gnomAD |
|
| rs752986934 | 41 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs1429661883 | 41 | K>R | No |
TOPMed gnomAD |
|
| rs1429661883 | 41 | K>T | No |
TOPMed gnomAD |
|
| rs769254724 | 43 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs769254724 | 43 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs759658360 | 44 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1188802920 | 44 | V>F | No | gnomAD | |
| rs759658360 | 44 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs1246508426 | 45 | D>V | No |
TOPMed gnomAD |
|
| rs2068813566 | 46 | N>D | No | Ensembl | |
| rs938704624 | 46 | N>K | No | gnomAD | |
| rs2068809484 | 47 | Q>H | No | Ensembl | |
| rs1359910010 | 47 | Q>K | No | TOPMed | |
| rs2068810660 | 47 | Q>R | No | gnomAD | |
| rs766751175 | 48 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs142774000 | 50 | S>G | No |
ESP TOPMed |
|
| rs1291864344 | 50 | S>N | No | gnomAD | |
| rs1291864344 | 50 | S>T | No | gnomAD | |
| rs1047724692 | 53 | V>G | No | Ensembl | |
| rs2068803123 | 56 | S>P | No | TOPMed | |
|
COSM6101238 rs773390425 |
63 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs377600874 | 63 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2149228794 | 65 | Q>R | No | Ensembl | |
| rs775334140 | 66 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs769594526 | 66 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2068797219 | 67 | L>V | No | Ensembl | |
| rs2068795711 | 68 | K>R | No | Ensembl | |
| rs1403336112 | 69 | P>S | No | gnomAD | |
| rs983102568 | 70 | I>V | No | TOPMed | |
| rs143720396 | 81 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1416981784 COSM4700518 |
81 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM448286 rs143720396 |
81 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs772017186 | 82 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1241125979 | 84 | A>T | No |
TOPMed gnomAD |
|
| rs1205520009 | 89 | N>K | No |
TOPMed gnomAD |
|
| rs1207966403 | 89 | N>S | No |
TOPMed gnomAD |
|
| rs1267315066 | 94 | K>Q | No | gnomAD | |
| rs200318419 | 95 | L>F | No | gnomAD | |
| rs200318419 | 95 | L>I | No | gnomAD | |
| rs951209020 | 95 | L>P | No | TOPMed | |
| rs1043618757 | 96 | S>G | No | Ensembl | |
| rs947439552 | 98 | P>T | No | Ensembl | |
| rs2056721144 | 101 | N>K | No | TOPMed | |
| rs2056720570 | 102 | Q>R | No | TOPMed | |
| rs780312580 | 104 | H>R | No | Ensembl | |
| rs1580365216 | 104 | H>Y | No | Ensembl | |
| rs2056717355 | 106 | K>N | No | Ensembl | |
| rs2056715833 | 110 | R>Q | No | TOPMed | |
| rs1561780323 | 110 | R>W | No |
TOPMed gnomAD |
|
| rs2056714980 | 111 | E>G | No | Ensembl | |
| rs1561780045 | 113 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2056712481 | 115 | M>I | No | TOPMed | |
| rs866809290 | 119 | N>K | No | gnomAD | |
| rs2056709667 | 122 | N>T | No | Ensembl | |
| rs756256876 | 122 | N>Y | No |
ExAC gnomAD |
|
| rs756324778 | 125 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs756324778 | 125 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs886059676 | 129 | V>I | No |
TOPMed gnomAD |
|
| rs535434553 | 131 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs2055874144 | 132 | P>A | No | TOPMed | |
| rs1553989497 | 133 | Q>H | No | Ensembl | |
|
COSM2956696 rs138883015 |
135 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs752184141 | 137 | E>V | No |
ExAC gnomAD |
|
| rs1343312868 | 138 | E>G | No | gnomAD | |
| rs1304596003 | 141 | D>H | No | gnomAD | |
| rs764524219 | 142 | V>I | No |
ExAC gnomAD |
|
| rs1336009977 | 145 | V>I | No | gnomAD | |
| rs1336009977 | 145 | V>L | No | gnomAD | |
| rs1561705597 | 149 | M>L | No | Ensembl | |
| rs757457303 | 153 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2055499284 | 154 | C>F | No | Ensembl | |
| rs1238675614 | 154 | C>R | No | gnomAD | |
| rs2055497569 | 158 | Q>* | No | TOPMed | |
| rs2055495735 | 159 | M>I | No | Ensembl | |
| rs2055496351 | 159 | M>K | No | Ensembl | |
| rs2055493853 | 162 | D>V | No | Ensembl | |
| rs1179813677 | 162 | D>Y | No |
TOPMed gnomAD |
|
| rs1364881223 | 163 | H>D | No |
TOPMed gnomAD |
|
|
rs1439640793 COSM257371 COSM257370 |
165 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs753035899 | 165 | R>Q | No |
ExAC gnomAD |
|
| rs779154652 | 166 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs779154652 | 166 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2055490032 | 167 | S>C | No | Ensembl | |
| rs755777632 | 168 | Y>F | No |
ExAC gnomAD |
|
| rs749238337 | 170 | L>V | No | Ensembl | |
|
COSM289373 rs1203901775 COSM289372 |
173 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs766981310 | 177 | I>T | No |
ExAC gnomAD |
|
| rs2055483165 | 183 | A>S | No | Ensembl | |
| rs1314239624 | 188 | R>M | No | gnomAD | |
| rs1402707593 | 190 | L>I | No | gnomAD | |
| rs2055301253 | 195 | I>T | No | TOPMed | |
| rs1407151693 | 196 | V>A | No |
TOPMed gnomAD |
|
|
rs1163076765 COSM362290 |
200 | D>N | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1367894037 | 201 | C>W | No |
TOPMed gnomAD |
|
| rs2055295413 | 211 | A>S | No | gnomAD | |
| rs1164376598 | 214 | A>T | No | gnomAD | |
|
rs2149071595 COSM3826363 COSM3826364 |
215 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs763570585 | 216 | T>A | No |
ExAC gnomAD |
|
| rs866249326 | 219 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1308820999 | 219 | M>L | No |
TOPMed gnomAD |
|
| rs1308820999 | 219 | M>V | No |
TOPMed gnomAD |
|
| rs536059402 | 227 | R>C | No | 1000Genomes | |
|
COSM1431535 rs752620406 COSM1431536 |
227 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
COSM98929 rs2149071513 |
231 | A>T | stomach [Cosmic] | No |
cosmic curated 1000Genomes |
| rs1219541757 | 237 | G>E | No | gnomAD | |
|
COSM1486135 COSM1486134 rs2055283676 |
238 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1290451034 | 241 | K>R | No |
TOPMed gnomAD |
|
| rs2149071455 | 242 | E>K | No | Ensembl | |
| rs939639515 | 244 | V>L | No |
TOPMed gnomAD |
|
| rs939639515 | 244 | V>M | No |
TOPMed gnomAD |
|
| rs1466428859 | 247 | W>* | No | gnomAD | |
| rs2054664716 | 253 | M>T | No | Ensembl | |
| rs756205634 | 256 | M>I | No | gnomAD | |
| rs2054663458 | 257 | V>F | No | TOPMed | |
|
rs769093991 COSM1058464 |
258 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1176181939 | 260 | K>R | No | gnomAD | |
| rs142638547 | 264 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2054658492 | 266 | R>S | No |
TOPMed gnomAD |
|
| rs376073317 | 268 | Y>C | No |
ESP ExAC TOPMed |
|
| rs372124619 | 272 | W>R | No |
ESP ExAC gnomAD |
|
|
rs2047052026 TCGA novel |
281 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1458381472 | 284 | P>R | No | gnomAD | |
| rs1330290049 | 284 | P>S | No |
TOPMed gnomAD |
|
| rs1372281749 | 292 | P>T | No | gnomAD | |
| rs2047046883 | 297 | Y>C | No | TOPMed | |
| rs368465138 | 300 | N>S | No |
ESP ExAC gnomAD |
|
| rs776843524 | 301 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM381168 rs866305399 COSM381169 |
305 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs774192821 | 308 | T>A | No |
ExAC gnomAD |
|
| rs774192821 | 308 | T>P | No |
ExAC gnomAD |
|
| rs2047040254 | 310 | P>L | No |
TOPMed gnomAD |
|
| rs748766468 | 310 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1387264041 | 319 | P>A | No | gnomAD | |
| rs1387264041 | 319 | P>S | No | gnomAD | |
| rs757125320 | 320 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1431531 rs757125320 COSM1431532 |
320 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2047035372 | 321 | D>E | No | gnomAD | |
|
COSM1694638 rs2047034230 |
323 | E>K | skin [Cosmic] | No |
cosmic curated gnomAD |
| rs2047034230 | 323 | E>Q | No | gnomAD | |
| rs758628108 | 325 | N>S | No |
ExAC gnomAD |
|
| rs917046650 | 329 | A>V | No | gnomAD | |
| rs1283729644 | 330 | S>G | No | TOPMed | |
| rs978003855 | 330 | S>T | No |
TOPMed gnomAD |
|
| rs776584197 | 331 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs534048937 | 334 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs777561999 | 335 | L>F | No |
ExAC gnomAD |
|
| rs1255789663 | 335 | L>S | No |
TOPMed gnomAD |
|
| rs1200724232 | 339 | M>I | No | gnomAD | |
| rs1258507409 | 341 | V>L | No | gnomAD | |
| rs566244724 | 343 | D>E | No | Ensembl | |
| rs778824606 | 345 | A>T | No |
ExAC gnomAD |
|
| rs753883473 | 348 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs753883473 | 348 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs766867795 | 349 | S>L | No |
ExAC gnomAD |
|
| rs116053658 | 351 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1396865562 | 351 | D>G | No | gnomAD | |
|
COSM1058456 COSM1058457 rs762664125 |
352 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1337478269 | 353 | A>D | No | gnomAD | |
| rs775333978 | 353 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1163541683 | 356 | H>Y | No | gnomAD | |
| rs2046304700 | 357 | P>S | No | Ensembl | |
| rs776143146 | 360 | N>D | No |
TOPMed gnomAD |
|
| rs200929584 | 360 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs61747621 | 360 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200929584 | 360 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs367742433 | 361 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1579443870 | 364 | D>A | No | Ensembl | |
| rs1342852403 | 366 | A>D | No |
TOPMed gnomAD |
|
| rs1342852403 | 366 | A>G | No |
TOPMed gnomAD |
|
| rs770847268 | 366 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM3606770 COSM3606771 rs1342852403 |
366 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2046296382 | 369 | E>D | No | TOPMed | |
|
rs1007459726 COSM1058458 |
370 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1000856354 | 371 | P>S | No |
TOPMed gnomAD |
|
| rs2038985204 | 376 | Y>N | No | gnomAD | |
| rs765875698 | 379 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1352055514 | 384 | E>V | No | gnomAD | |
| rs773178511 | 386 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs947927165 | 386 | T>K | No | Ensembl | |
| rs773178511 | 386 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs772015520 | 387 | I>T | No |
ExAC gnomAD |
|
| rs1449291933 | 388 | E>D | No | TOPMed | |
| rs761553171 | 389 | E>D | No |
ExAC gnomAD |
|
| rs142571603 | 390 | W>R | No |
ESP TOPMed |
|
| rs2038978688 | 392 | E>Q | No | TOPMed | |
|
COSM3993832 rs895854132 COSM3993831 |
396 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1752002430 | 398 | V>A | No | Ensembl | |
| rs1215730341 | 399 | M>T | No | gnomAD | |
| rs1239953035 | 399 | M>V | No |
TOPMed gnomAD |
|
| rs1178947705 | 400 | N>H | No | gnomAD | |
| rs1751993557 | 403 | E>Q | No | TOPMed | |
| rs1751991020 | 404 | K>T | No | Ensembl | |
| rs1237068618 | 405 | T>N | No | gnomAD | |
| rs763212852 | 407 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs763212852 | 407 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1279500364 | 408 | G>C | No | gnomAD | |
| rs200198724 | 408 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1751970122 | 411 | K>E | No | TOPMed | |
| rs745879015 | 414 | P>A | No |
ExAC gnomAD |
|
| rs781438063 | 414 | P>L | No |
ExAC gnomAD |
|
| rs771554854 | 415 | S>F | No |
ExAC gnomAD |
|
| rs1341825773 | 419 | A>E | No | gnomAD | |
| rs533232317 | 421 | V>E | No | Ensembl | |
| rs1743755313 | 426 | S>N | No | gnomAD | |
| rs1743754005 | 426 | S>R | No | Ensembl | |
| rs1278338502 | 427 | L>F | No | gnomAD | |
| rs1278338502 | 427 | L>I | No | gnomAD | |
| rs1743747434 | 430 | S>F | No | Ensembl | |
| rs1385750856 | 430 | S>T | No | gnomAD | |
| rs756673886 | 431 | S>A | No |
ExAC gnomAD |
|
| rs751112405 | 431 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1743739720 | 434 | N>S | No | TOPMed | |
| rs2148889319 | 436 | I>N | No | Ensembl | |
| rs765188153 | 438 | S>F | No |
ExAC gnomAD |
|
| rs765188153 | 438 | S>Y | No |
ExAC gnomAD |
|
| rs1743728349 | 439 | M>I | No | Ensembl | |
| rs1028234085 | 439 | M>T | No |
TOPMed gnomAD |
|
| rs1578554988 | 441 | T>P | No | Ensembl | |
| rs760634798 | 442 | D>A | No |
ExAC gnomAD |
|
| rs900673716 | 442 | D>E | No | Ensembl | |
| rs760634798 | 442 | D>G | No |
ExAC gnomAD |
|
| rs766651127 | 442 | D>N | No |
ExAC gnomAD |
|
| rs1488991657 | 443 | Q>E | No |
TOPMed gnomAD |
|
| rs1488991657 | 443 | Q>K | No |
TOPMed gnomAD |
|
| rs1310621539 | 445 | L>V | No | TOPMed | |
| rs1743703758 | 449 | T>I | No | TOPMed | |
| rs1258313365 | 450 | D>G | No | gnomAD | |
| rs1232422886 | 452 | S>N | No | gnomAD | |
| rs1560542773 | 452 | S>R | No | Ensembl | |
| rs1231843434 | 454 | E>G | No | gnomAD | |
| rs1267683767 | 455 | A>T | No | TOPMed | |
| rs750969033 | 456 | S>L | No |
TOPMed gnomAD |
|
| rs774694594 | 458 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs774694594 | 458 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs143420758 | 459 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs143420758 | 459 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1375872651 | 459 | P>S | No | gnomAD | |
| rs1743680772 | 460 | L>V | No | TOPMed | |
| rs1743679229 | 461 | G>V | No | gnomAD | |
| rs1466995056 | 463 | C>Y | No |
TOPMed gnomAD |
|
| rs1402676083 | 464 | R>G | No | gnomAD | |
| rs1578553614 | 465 | R>G | No | Ensembl |
2 associated diseases with P53779
[MIM: 616890]: Split-foot malformation with mesoaxial polydactyly (SFMMP)
An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617760]: Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6)
A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P53779
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 16 - 277 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 17 - 260 | IPR001245 |
| domain | Sterile alpha motif domain | 336 - 410 | IPR001660 |
| active_site | Serine/threonine-protein kinase, active site | 129 - 141 | IPR008271 |
Functions
6 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. |
| 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. |
4 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 |
| MAP kinase kinase activity | Catalysis of the concomitant phosphorylation of threonine (T) and tyrosine (Y) residues in a Thr-Glu-Tyr (TEY) thiolester sequence in a MAP kinase (MAPK) substrate. |
| protein serine kinase activity | Catalysis of the reactions |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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 |
| 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. |
| response to light stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| 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. |
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 |
| P45984 | MAPK9 | Mitogen-activated protein kinase 9 | Homo sapiens (Human) | SS |
| P45983 | MAPK8 | Mitogen-activated protein kinase 8 | 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 |
| Q9WTU6 | Mapk9 | Mitogen-activated protein kinase 9 | Mus musculus (Mouse) | PR |
| Q91Y86 | Mapk8 | Mitogen-activated protein kinase 8 | 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 |
| MSLHFLYYCS | EPTLDVKIAF | CQGFDKQVDV | SYIAKHYNMS | KSKVDNQFYS | VEVGDSTFTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKRYQNLKPI | GSGAQGIVCA | AYDAVLDRNV | AIKKLSRPFQ | NQTHAKRAYR | ELVLMKCVNH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNIISLLNVF | TPQKTLEEFQ | DVYLVMELMD | ANLCQVIQME | LDHERMSYLL | YQMLCGIKHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HSAGIIHRDL | KPSNIVVKSD | CTLKILDFGL | ARTAGTSFMM | TPYVVTRYYR | APEVILGMGY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KENVDIWSVG | CIMGEMVRHK | ILFPGRDYID | QWNKVIEQLG | TPCPEFMKKL | QPTVRNYVEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPKYAGLTFP | KLFPDSLFPA | DSEHNKLKAS | QARDLLSKML | VIDPAKRISV | DDALQHPYIN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VWYDPAEVEA | PPPQIYDKQL | DEREHTIEEW | KELIYKEVMN | SEEKTKNGVV | KGQPSPSGAA |
| 430 | 440 | 450 | 460 | ||
| VNSSESLPPS | SSVNDISSMS | TDQTLASDTD | SSLEASAGPL | GCCR |