Descriptions
HSPA8 (or hsc70) is a heat shock cognate protein involved in many cellular processes. During recovery from stress, HSPA8, initially accumulating in the nucleoplasm for folding/refolding of proteins, transiently concentrates in nucleoli for nucleolar morphology and function restoration. The inhibitory region is positioned at one of the three domains of HSPA8 protein, which is the N-terminal ATPase domain, specifically in residues 263-287 of domain IIB. Under normal growth conditions, the constitutive nucleolar targeting function that is provided by residues 225-262 is diminished by the autoinhibitory element located in residues 263-287. When cells recover from stress, the autoinhibitory element is inactivated, and the constitutive nucleolar targeting function restores.
Autoinhibitory domains (AIDs)
Target domain |
225-262 (Nucleolar targeting region) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
346 variants for P0DMV9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_029053 RCV000856574 rs562047 |
110 | E>D | Chronic obstructive pulmonary disease [ClinVar] | Yes |
ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
COSM451224 rs199562339 |
2 | A>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1269244205 | 3 | K>E | No |
TOPMed gnomAD |
|
| rs913476381 | 4 | A>G | No | TOPMed | |
| rs1816802726 | 4 | A>T | No | gnomAD | |
| rs770554335 | 5 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs373056566 | 5 | A>V | No |
ESP ExAC gnomAD |
|
| rs2151485738 | 6 | A>T | No | Ensembl | |
| TCGA novel | 7 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776168134 | 7 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1471166042 | 8 | G>R | No | gnomAD | |
| rs1160043619 | 9 | I>M | No |
TOPMed gnomAD |
|
| rs1417016467 | 10 | D>E | No |
TOPMed gnomAD |
|
| rs1816805754 | 12 | G>D | No | Ensembl | |
| rs1391275818 | 14 | T>I | No | gnomAD | |
| rs1816806953 | 16 | S>T | No | gnomAD | |
| rs1280939377 | 18 | V>A | No |
TOPMed gnomAD |
|
| rs764669178 | 18 | V>L | No |
ExAC gnomAD |
|
| rs1292155555 | 20 | V>L | No |
TOPMed gnomAD |
|
| rs1292155555 | 20 | V>M | No |
TOPMed gnomAD |
|
| rs750593341 | 21 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed |
| rs1676354830 | 22 | Q>* | No | Ensembl | |
| rs1040199719 | 23 | H>Y | No | TOPMed | |
| rs1267601763 | 24 | G>A | No | gnomAD | |
| COSM5187798 | 24 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1232038584 | 24 | G>R | No |
TOPMed gnomAD |
|
| rs1232038584 | 24 | G>S | No |
TOPMed gnomAD |
|
| rs1816810864 | 25 | K>R | No | gnomAD | |
| rs1339406652 | 27 | E>D | No | TOPMed | |
| rs777680801 | 29 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1256952455 | 29 | I>T | No | gnomAD | |
| rs758371188 | 29 | I>V | No |
ExAC gnomAD |
|
| rs1816813214 | 30 | A>G | No | Ensembl | |
| rs746836242 | 30 | A>T | No |
ExAC gnomAD |
|
| rs770698112 | 31 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs776149449 | 32 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1165969464 | 32 | D>H | No |
TOPMed gnomAD |
|
| rs1165969464 | 32 | D>N | No |
TOPMed gnomAD |
|
| rs1410103057 | 33 | Q>* | No | gnomAD | |
| rs1335368232 | 34 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1311706893 | 34 | G>S | No | gnomAD | |
| rs1353095554 | 35 | N>D | No |
TOPMed gnomAD |
|
| rs745490027 | 35 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs201228591 | 36 | R>C | No |
1000Genomes gnomAD |
|
| rs1227091476 | 38 | T>A | No | gnomAD | |
| rs1816817011 | 39 | P>R | No | Ensembl | |
| TCGA novel | 39 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775184395 | 40 | S>T | No |
ExAC gnomAD |
|
| rs762552163 | 42 | V>M | No |
ExAC gnomAD |
|
| rs764758902 | 45 | T>A | No |
ExAC gnomAD |
|
| rs764758902 | 45 | T>P | No |
ExAC gnomAD |
|
| rs1816819369 | 46 | D>N | No | TOPMed | |
| rs1562369072 | 46 | D>R | No | Ensembl | |
| rs774866724 | 47 | T>I | No |
ExAC gnomAD |
|
| rs774866724 | 47 | T>S | No |
ExAC gnomAD |
|
| rs762089786 | 48 | E>K | No |
ExAC gnomAD |
|
| rs762089786 | 48 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs767884583 | 49 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs750633019 | 49 | R>L | No |
ExAC gnomAD |
|
| rs1816821749 | 51 | I>V | No | Ensembl | |
| rs766556300 | 52 | G>R | No |
ExAC gnomAD |
|
| rs753985209 | 53 | D>A | No |
ExAC gnomAD |
|
| rs753985209 | 53 | D>V | No |
ExAC gnomAD |
|
| rs755035742 | 56 | K>E | No | ExAC | |
| rs1816822818 | 56 | K>R | No | gnomAD | |
| rs1440659220 | 57 | N>D | No | TOPMed | |
| rs746894565 | 58 | Q>K | No |
ExAC gnomAD |
|
| rs757031783 | 60 | A>T | No |
ExAC gnomAD |
|
| rs780987498 | 60 | A>V | No |
ExAC gnomAD |
|
| rs2151486096 | 61 | L>V | No | 1000Genomes | |
| rs779841385 | 63 | P>L | No |
ExAC gnomAD |
|
| rs769641569 | 63 | P>S | No |
ExAC gnomAD |
|
| rs1816825241 | 64 | Q>E | No | gnomAD | |
| rs1816825480 | 64 | Q>P | No | Ensembl | |
| rs748823567 | 65 | N>D | No |
ExAC gnomAD |
|
| rs1357698102 | 66 | T>S | No |
TOPMed gnomAD |
|
| rs1346035098 | 69 | D>E | No |
TOPMed gnomAD |
|
| rs1816826398 | 70 | A>V | No | TOPMed | |
| rs1816827349 | 73 | L>M | No | gnomAD | |
| rs113094932 | 74 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1485483208 | 74 | I>S | No | gnomAD | |
| rs1485483208 | 74 | I>T | No | gnomAD | |
| rs1249648377 | 75 | G>S | No | gnomAD | |
| rs1449784424 | 76 | R>C | No |
TOPMed gnomAD |
|
| rs1449784424 | 76 | R>G | No |
TOPMed gnomAD |
|
| rs773664824 | 76 | R>H | No | ExAC | |
| rs761021592 | 80 | D>E | No |
ExAC gnomAD |
|
| rs1192777052 | 80 | D>H | No | gnomAD | |
| rs1181035656 | 81 | P>L | No | gnomAD | |
| rs1434595944 | 84 | Q>* | No | gnomAD | |
| rs1176119168 | 84 | Q>H | No | gnomAD | |
| rs1344161454 | 85 | S>L | No |
TOPMed gnomAD |
|
| rs1816830719 | 85 | S>T | No | Ensembl | |
| rs1344161454 | 85 | S>W | No |
TOPMed gnomAD |
|
| rs1015907781 | 87 | M>V | No | gnomAD | |
| rs1816832218 | 89 | H>Y | No | Ensembl | |
| rs1215130191 | 91 | P>L | No | Ensembl | |
| rs1816832962 | 95 | I>S | No | gnomAD | |
|
VAR_032152 rs2151486240 |
95 | I>V | No |
1000Genomes UniProt |
|
| rs1816833697 | 96 | N>K | No | gnomAD | |
| rs1816833451 | 96 | N>S | No | Ensembl | |
| rs1436229531 | 98 | G>R | No | gnomAD | |
| rs1562369469 | 101 | P>L | No | Ensembl | |
| rs1435245331 | 104 | Q>* | No | gnomAD | |
| rs1288755742 | 107 | Y>* | No |
TOPMed gnomAD |
|
| rs1816835659 | 107 | Y>C | No | gnomAD | |
| rs1816835431 | 107 | Y>H | No | Ensembl | |
| rs1228087422 | 109 | G>E | No | gnomAD | |
| rs144223778 | 110 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1581736257 | 114 | F>C | No | Ensembl | |
| rs1816837255 | 115 | Y>C | No | gnomAD | |
| rs1816837255 | 115 | Y>F | No | gnomAD | |
| rs1316468569 | 115 | Y>H | No | gnomAD | |
| rs1816837701 | 116 | P>S | No | Ensembl | |
| rs1465313994 | 120 | S>* | No | gnomAD | |
| rs1250953937 | 122 | M>V | No | gnomAD | |
| rs1350660305 | 125 | T>S | No | Ensembl | |
| rs1816839996 | 127 | M>I | No | Ensembl | |
| rs1816840230 | 130 | I>M | No | Ensembl | |
| rs1489256478 | 131 | A>T | No | gnomAD | |
| rs1406810342 | 132 | E>K | No | gnomAD | |
| rs1816841688 | 137 | Y>F | No | Ensembl | |
| rs1816842131 | 138 | P>Q | No | Ensembl | |
| rs1414774525 | 138 | P>S | No | gnomAD | |
| rs1164618245 | 141 | N>S | No | gnomAD | |
| rs1816842808 | 142 | A>G | No | Ensembl | |
| rs1482639273 | 143 | V>M | No | gnomAD | |
| rs1392820269 | 146 | V>L | No | gnomAD | |
| rs1392820269 | 146 | V>M | No | gnomAD | |
| rs1294280713 | 156 | Q>R | No | gnomAD | |
| rs1816844364 | 159 | K>R | No | Ensembl | |
| rs1290315529 | 169 | V>M | No | gnomAD | |
| rs1232673799 | 182 | A>V | No | gnomAD | |
| rs1323229301 | 184 | G>S | No | gnomAD | |
| rs1222040287 | 188 | T>R | No | gnomAD | |
| rs1231918709 | 189 | G>S | No | gnomAD | |
| rs1183690924 | 193 | R>G | No | gnomAD | |
| rs1407366867 | 222 | T>M | No | gnomAD | |
| rs1165965484 | 224 | G>R | No | gnomAD | |
| rs1816848509 | 229 | G>C | No | Ensembl | |
| rs1309931057 | 258 | R>P | No | gnomAD | |
| rs1351248420 | 264 | R>C | No | gnomAD | |
| rs1414260858 | 269 | R>G | No | gnomAD | |
| rs1291288994 | 295 | T>M | No | gnomAD | |
| rs1381293278 | 296 | S>F | No | gnomAD | |
| rs1228628207 | 297 | I>T | No | gnomAD | |
| rs1206932739 | 311 | R>* | No | gnomAD | |
| rs1485023616 | 314 | L>V | No | gnomAD | |
| rs1185166486 | 322 | R>C | No | gnomAD | |
| rs1236189324 | 328 | K>M | No | gnomAD | |
| rs1474071038 | 332 | H>Q | No | gnomAD | |
| rs1419335678 | 341 | T>I | No | gnomAD | |
| rs1371406893 | 353 | F>L | No | gnomAD | |
| rs2151486592 | 354 | F>V | No | Ensembl | |
| rs2151486599 | 355 | N>T | No | Ensembl | |
| rs1332304623 | 364 | N>S | No | gnomAD | |
| rs1360807807 | 365 | P>A | No | gnomAD | |
| rs1448723989 | 374 | A>V | No | gnomAD | |
| rs1269368750 | 378 | A>V | No | gnomAD | |
| rs1362834806 | 381 | M>V | No | gnomAD | |
| rs1230348840 | 382 | G>E | No | gnomAD | |
| rs1346739999 | 390 | D>G | No | gnomAD | |
| rs1208038600 | 396 | V>M | No | gnomAD | |
| rs1280186526 | 399 | L>V | No | gnomAD | |
| rs1816856066 | 413 | L>M | No | Ensembl | |
| rs898841846 | 418 | S>C | No | gnomAD | |
| rs1242061932 | 422 | T>I | No | gnomAD | |
| rs1463772783 | 425 | T>A | No | gnomAD | |
| rs1001260474 | 425 | T>M | No | gnomAD | |
| rs1390970619 | 427 | I>F | No | gnomAD | |
| rs1454038716 | 429 | T>A | No | gnomAD | |
| rs1170864244 | 433 | D>N | No | gnomAD | |
| rs1414955018 | 436 | P>H | No | gnomAD | |
| rs1414955018 | 436 | P>L | No | gnomAD | |
| rs1386361826 | 441 | Q>* | No | gnomAD | |
| rs1388575375 | 442 | V>L | No | Ensembl | |
| rs959849138 | 450 | T>M | No | TOPMed | |
| rs1369757649 | 452 | D>H | No | gnomAD | |
| rs1816861180 | 457 | G>R | No | Ensembl | |
| rs1816861623 | 458 | R>H | No | Ensembl | |
| rs1346696638 | 463 | G>D | No | Ensembl | |
| rs992941361 | 463 | G>S | No | gnomAD | |
| rs1346696638 | 463 | G>V | No | Ensembl | |
| rs1284135565 | 464 | I>M | No | gnomAD | |
| rs1816863171 | 465 | P>S | No | Ensembl | |
| rs1463955767 | 466 | P>L | No |
1000Genomes gnomAD |
|
|
VAR_032153 rs538280104 |
467 | A>V | No |
UniProt 1000Genomes ExAC dbSNP gnomAD |
|
| rs1411878651 | 468 | P>L | No | gnomAD | |
| rs1816864176 | 468 | P>S | No | Ensembl | |
| rs1378384303 | 471 | V>M | No | Ensembl | |
| rs1433261844 | 473 | Q>* | No | Ensembl | |
| rs1266062021 | 473 | Q>H | No |
TOPMed gnomAD |
|
| rs1816865972 | 476 | V>M | No | Ensembl | |
| rs1197093371 | 477 | T>I | No | gnomAD | |
| rs1816867525 | 478 | F>I | No | Ensembl | |
| rs112626070 | 480 | I>N | No | Ensembl | |
| rs1581737289 | 481 | D>A | No | Ensembl | |
| rs1478356657 | 481 | D>E | No | gnomAD | |
| rs1488199718 | 483 | N>T | No | Ensembl | |
| rs1816869308 | 486 | L>P | No | gnomAD | |
| rs1312787428 | 486 | L>V | No | gnomAD | |
| rs1458800500 | 488 | V>I | No | gnomAD | |
| rs1217651069 | 489 | T>M | No | Ensembl | |
| rs1342582741 | 493 | K>R | No | gnomAD | |
| rs1384875718 | 495 | T>S | No | gnomAD | |
| rs1816871122 | 496 | G>S | No | gnomAD | |
| rs1331359225 | 498 | A>V | No | gnomAD | |
| rs1816871822 | 499 | N>D | No | Ensembl | |
|
rs483638 VAR_029054 |
499 | N>S | No |
UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
| rs1327667779 | 501 | I>F | No | gnomAD | |
| rs1230845373 | 501 | I>N | No | gnomAD | |
| rs1269151408 | 502 | T>I | No | gnomAD | |
| rs1292239300 | 507 | K>N | No | gnomAD | |
| rs1181145611 | 509 | R>H | No | gnomAD | |
| rs1216027517 | 509 | R>S | No | gnomAD | |
| rs1581737510 | 510 | L>V | No | Ensembl | |
| rs1581737532 | 514 | E>G | No | Ensembl | |
| rs1249764502 | 515 | I>L | No | gnomAD | |
| rs17854926 | 515 | I>M | No |
1000Genomes ExAC gnomAD |
|
| rs1816876579 | 516 | E>D | No | Ensembl | |
| rs748909553 | 516 | E>V | No |
ExAC gnomAD |
|
| rs1456164208 | 517 | R>C | No | gnomAD | |
| rs1192568169 | 517 | R>L | No | TOPMed | |
| rs1477659514 | 518 | M>I | No | Ensembl | |
| TCGA novel | 519 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1816877341 | 520 | Q>* | No | Ensembl | |
| rs1390980236 | 522 | A>G | No | gnomAD | |
| rs1390980236 | 522 | A>V | No | gnomAD | |
| rs1816878995 | 524 | K>E | No | Ensembl | |
| rs1409914873 | 529 | D>E | No | gnomAD | |
| rs772700750 | 533 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs772700750 | 533 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1338080039 | 534 | E>K | No | gnomAD | |
| rs1816880915 | 535 | R>G | No | TOPMed | |
| rs1816881096 | 535 | R>K | No | gnomAD | |
| rs1340430020 | 535 | R>S | No | gnomAD | |
| rs1243001216 | 538 | A>T | No | gnomAD | |
| rs1314641026 | 538 | A>V | No | Ensembl | |
| rs1267654340 | 541 | A>D | No | gnomAD | |
| rs1267654340 | 541 | A>V | No | gnomAD | |
| rs771217973 | 546 | A>T | No |
ExAC gnomAD |
|
| rs1484039677 | 546 | A>V | No | gnomAD | |
| rs1816884164 | 547 | F>S | No | TOPMed | |
| rs1301077007 | 548 | N>H | No | TOPMed | |
| rs1816884551 | 548 | N>S | No | TOPMed | |
| rs1256661224 | 549 | M>V | No | gnomAD | |
| rs1422038422 | 550 | K>R | No | gnomAD | |
| rs1816885431 | 551 | S>N | No | Ensembl | |
| rs759701257 | 552 | A>T | No |
ExAC gnomAD |
|
| rs1462172122 | 552 | A>V | No | gnomAD | |
| rs1816886065 | 553 | V>L | No |
TOPMed gnomAD |
|
| rs1816886065 | 553 | V>M | No |
TOPMed gnomAD |
|
| TCGA novel | 554 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 554 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765352761 | 557 | G>R | No |
ExAC gnomAD |
|
| rs1816886678 | 558 | L>F | No | Ensembl | |
| rs752859730 | 559 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs371838772 | 560 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1816887387 | 560 | G>S | No | Ensembl | |
| rs1402091779 | 561 | K>E | No | gnomAD | |
| rs767507834 | 562 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs1816888380 | 563 | S>C | No | gnomAD | |
| rs1816888587 | 563 | S>N | No | gnomAD | |
| rs377206432 | 563 | S>R | No |
ESP ExAC gnomAD |
|
| rs1816889012 | 564 | E>K | No | gnomAD | |
| TCGA novel | 565 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1341504351 | 565 | A>V | No | gnomAD | |
| rs753666542 | 566 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs779945701 | 566 | D>G | No |
ExAC gnomAD |
|
| rs1256057089 | 568 | K>E | No |
TOPMed gnomAD |
|
| rs778424336 | 568 | K>M | No |
ExAC gnomAD |
|
| rs757789364 | 568 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs778424336 | 568 | K>R | No |
ExAC gnomAD |
|
| rs777553598 | 569 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749173984 | 569 | K>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs777027173 | 570 | V>A | No |
ExAC gnomAD |
|
| rs771303814 | 570 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs1186474421 | 571 | L>M | No |
TOPMed gnomAD |
|
| rs1186474421 | 571 | L>V | No |
TOPMed gnomAD |
|
| rs770115420 | 572 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1258813035 | 573 | K>R | No |
TOPMed gnomAD |
|
| rs1449746824 | 574 | C>R | No | gnomAD | |
| rs1468336315 | 575 | Q>* | No | gnomAD | |
| rs1267506041 | 577 | V>I | No |
TOPMed gnomAD |
|
| rs576580373 | 578 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs773305827 | 580 | W>* | No |
ExAC gnomAD |
|
| TCGA novel | 580 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760744554 | 581 | L>P | No |
ExAC gnomAD |
|
| rs1367582985 | 582 | D>N | No |
TOPMed gnomAD |
|
| TCGA novel | 583 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1816895820 | 585 | T>A | No | Ensembl | |
| rs753754688 | 585 | T>I | No |
ExAC gnomAD |
|
| rs1816896420 | 588 | E>* | No |
TOPMed gnomAD |
|
| rs1816896420 | 588 | E>K | No |
TOPMed gnomAD |
|
| rs1816896420 | 588 | E>Q | No |
TOPMed gnomAD |
|
| rs1816897071 | 590 | D>E | No | Ensembl | |
| rs1448916388 | 591 | E>D | No | TOPMed | |
| rs200083915 | 592 | F>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1816897870 | 594 | H>D | No | Ensembl | |
| rs1206562466 | 595 | K>R | No | gnomAD | |
| rs752223953 | 596 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs757955844 | 597 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1264843290 | 600 | E>* | No | gnomAD | |
| rs1816899367 | 600 | E>A | No | Ensembl | |
| rs757798817 | 605 | P>L | No | ExAC | |
| rs757798817 | 605 | P>R | No | ExAC | |
| rs1458733792 | 608 | S>R | No |
TOPMed gnomAD |
|
| rs781660688 | 609 | G>R | No |
ExAC gnomAD |
|
| rs1162162585 | 609 | G>V | No | Ensembl | |
| rs1436300793 | 611 | Y>C | No | gnomAD | |
| rs775815798 | 613 | G>D | No |
ExAC gnomAD |
|
| rs1816902704 | 614 | A>G | No | Ensembl | |
| rs1816902516 | 614 | A>T | No | Ensembl | |
| rs768978676 | 615 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1302126298 | 615 | G>V | No | gnomAD | |
| rs774614444 | 616 | G>V | No |
ExAC gnomAD |
|
| rs867170652 | 617 | P>L | No | Ensembl | |
| rs766480317 | 618 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs376637337 | 619 | P>S | No |
1000Genomes ESP ExAC gnomAD |
|
| rs759379347 | 620 | G>S | No |
ExAC gnomAD |
|
| rs752412486 | 621 | G>V | No |
ExAC gnomAD |
|
| rs762557780 | 622 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs1472545637 | 623 | G>E | No |
TOPMed gnomAD |
|
| rs149254838 | 623 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1816905879 | 625 | Q>R | No | TOPMed | |
| rs2151487571 | 627 | P>R | No | 1000Genomes | |
| rs756701710 | 628 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1401614312 | 628 | K>T | No |
TOPMed gnomAD |
|
| rs1164541512 | 630 | G>R | No | gnomAD | |
| rs1816906856 | 631 | S>F | No |
TOPMed gnomAD |
|
| rs1348334059 | 632 | G>A | No |
TOPMed gnomAD |
|
| rs1348334059 | 632 | G>V | No |
TOPMed gnomAD |
|
| rs1294187054 | 634 | G>A | No |
TOPMed gnomAD |
|
| rs1294187054 | 634 | G>D | No |
TOPMed gnomAD |
|
| rs558798778 | 634 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1294187054 | 634 | G>V | No |
TOPMed gnomAD |
|
| rs756527041 | 636 | T>A | No |
ExAC gnomAD |
|
| rs1816908434 | 636 | T>I | No | Ensembl | |
| COSM1329798 | 636 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs541068717 | 637 | I>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs541068717 | 637 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1323733082 | 637 | I>V | No | TOPMed | |
| rs779265498 | 639 | E>A | No |
ExAC gnomAD |
|
| rs1246453769 | 639 | E>K | No |
TOPMed gnomAD |
|
| rs1816910672 | 641 | D>G | No |
TOPMed gnomAD |
|
| rs1201791726 | 641 | D>H | No |
TOPMed gnomAD |
No associated diseases with P0DMV9
6 regional properties for P0DMV9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 509 - 789 | IPR000719 |
| domain | S-locus glycoprotein domain | 215 - 323 | IPR000858 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 510 - 770 | IPR001245 |
| domain | Bulb-type lectin domain | 27 - 179 | IPR001480 |
| domain | PAN/Apple domain | 345 - 425 | IPR003609 |
| active_site | Serine/threonine-protein kinase, active site | 630 - 642 | IPR008271 |
Functions
21 GO annotations of cellular component
| Name | Definition |
|---|---|
| aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| inclusion body | A discrete intracellular part formed of aggregated molecules such as proteins or other biopolymers. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATP-dependent protein disaggregase activity | An ATP-dependent molecular chaperone activity that mediates the solubilization of ordered protein aggregates. |
| ATP-dependent protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis. |
| C3HC4-type RING finger domain binding | Binding to a C3HC4-type zinc finger domain of a protein. The C3HC4-type zinc finger is a variant of RING finger, is a cysteine-rich domain of 40 to 60 residues that coordinates two zinc ions, and has the consensus sequence |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
| histone deacetylase binding | Binding to histone deacetylase. |
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| unfolded protein binding | Binding to an unfolded protein. |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| cellular heat acclimation | Any process that increases heat tolerance of a cell in response to high temperatures. |
| cellular response to heat | 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| cellular response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| cellular response to steroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. |
| chaperone cofactor-dependent protein refolding | The process of assisting in the correct posttranslational noncovalent assembly of proteins, which is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release. |
| mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| negative regulation of inclusion body assembly | Any process that decreases the rate, frequency, or extent of inclusion body assembly. Inclusion body assembly is the aggregation, arrangement and bonding together of a set of components to form an inclusion body. |
| negative regulation of protein ubiquitination | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of erythrocyte differentiation | Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. |
| 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 interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of microtubule nucleation | Any process that increases the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway | Any process that activates or increases the frequency, rate, or extent of the nucleotide-binding oligomerization domain containing 2 (NOD2) 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 tumor necrosis factor-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor-mediated signaling pathway. |
| protein refolding | The process carried out by a cell that restores the biological activity of an unfolded or misfolded protein, using helper proteins such as chaperones. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of mitotic spindle assembly | Any process that modulates the frequency, rate or extent of mitotic spindle assembly. |
| regulation of protein ubiquitination | Any process that modulates the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
57 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P19120 | HSPA8 | Heat shock cognate 71 kDa protein | Bos taurus (Bovine) | SS |
| Q2YDD0 | HSPA14 | Heat shock 70 kDa protein 14 | Bos taurus (Bovine) | SS |
| P0CB32 | HSPA1L | Heat shock 70 kDa protein 1-like | Bos taurus (Bovine) | SS |
| Q27975 | HSPA1A | Heat shock 70 kDa protein 1A | Bos taurus (Bovine) | SS |
| O73885 | HSPA8 | Heat shock cognate 71 kDa protein | Gallus gallus (Chicken) | SS |
| E1C2P3 | HSPA14 | Heat shock 70 kDa protein 14 | Gallus gallus (Chicken) | SS |
| P08106 | Heat shock 70 kDa protein | Gallus gallus (Chicken) | SS | |
| P77319 | hscC | Chaperone protein HscC | Escherichia coli (strain K12) | PR |
| P0A6Y8 | dnaK | Chaperone protein DnaK | Escherichia coli (strain K12) | SS |
| P29843 | Hsc70-1 | Heat shock 70 kDa protein cognate 1 | Drosophila melanogaster (Fruit fly) | SS |
| O97125 | Hsp68 | Heat shock protein 68 | Drosophila melanogaster (Fruit fly) | SS |
| P02825 | Hsp70Ab | Major heat shock 70 kDa protein Ab | Drosophila melanogaster (Fruit fly) | SS |
| P11146 | Hsc70-2 | Heat shock 70 kDa protein cognate 2 | Drosophila melanogaster (Fruit fly) | SS |
| P11147 | Hsc70-4 | Heat shock 70 kDa protein cognate 4 | Drosophila melanogaster (Fruit fly) | SS |
| P82910 | Hsp70Aa | Major heat shock 70 kDa protein Aa | Drosophila melanogaster (Fruit fly) | SS |
| Q8INI8 | Hsp70Ba | Major heat shock 70 kDa protein Ba | Drosophila melanogaster (Fruit fly) | SS |
| Q9BIR7 | Hsp70Bc | Major heat shock 70 kDa protein Bc | Drosophila melanogaster (Fruit fly) | SS |
| Q9BIS2 | Hsp70Bb | Major heat shock 70 kDa protein Bb | Drosophila melanogaster (Fruit fly) | SS |
| Q9VG58 | Hsp70Bbb | Major heat shock 70 kDa protein Bbb | Drosophila melanogaster (Fruit fly) | SS |
| Q96MM6 | HSPA12B | Heat shock 70 kDa protein 12B | Homo sapiens (Human) | PR |
| O43301 | HSPA12A | Heat shock 70 kDa protein 12A | Homo sapiens (Human) | PR |
| P0DMV8 | HSPA1A | Heat shock 70 kDa protein 1A | Homo sapiens (Human) | SS |
| P11021 | HSPA5 | Endoplasmic reticulum chaperone BiP | Homo sapiens (Human) | SS |
| P11142 | HSPA8 | Heat shock cognate 71 kDa protein | Homo sapiens (Human) | EV |
| P17066 | HSPA6 | Heat shock 70 kDa protein 6 | Homo sapiens (Human) | SS |
| P34931 | HSPA1L | Heat shock 70 kDa protein 1-like | Homo sapiens (Human) | SS |
| P38646 | HSPA9 | Stress-70 protein, mitochondrial | Homo sapiens (Human) | SS |
| P54652 | HSPA2 | Heat shock-related 70 kDa protein 2 | Homo sapiens (Human) | SS |
| Q0VDF9 | HSPA14 | Heat shock 70 kDa protein 14 | Homo sapiens (Human) | SS |
| P48741 | HSPA7 | Putative heat shock 70 kDa protein 7 | Homo sapiens (Human) | SS |
| P11143 | HSP70 | Heat shock 70 kDa protein | Zea mays (Maize) | SS |
| P16627 | Hspa1l | Heat shock 70 kDa protein 1-like | Mus musculus (Mouse) | SS |
| P63017 | Hspa8 | Heat shock cognate 71 kDa protein | Mus musculus (Mouse) | SS |
| Q99M31 | Hspa14 | Heat shock 70 kDa protein 14 | Mus musculus (Mouse) | SS |
| Q8K0U4 | Hspa12a | Heat shock 70 kDa protein 12A | Mus musculus (Mouse) | PR |
| P17156 | Hspa2 | Heat shock-related 70 kDa protein 2 | Mus musculus (Mouse) | SS |
| Q9CZJ2 | Hspa12b | Heat shock 70 kDa protein 12B | Mus musculus (Mouse) | PR |
| P17879 | Hspa1b | Heat shock 70 kDa protein 1B | Mus musculus (Mouse) | SS |
| Q61696 | Hspa1a | Heat shock 70 kDa protein 1A | Mus musculus (Mouse) | SS |
| Q6S4N2 | HSPA1B | Heat shock 70 kDa protein 1B | Sus scrofa (Pig) | SS |
| P14659 | Hspa2 | Heat shock-related 70 kDa protein 2 | Rattus norvegicus (Rat) | SS |
| P63018 | Hspa8 | Heat shock cognate 71 kDa protein | Rattus norvegicus (Rat) | SS |
| P55063 | Hspa1l | Heat shock 70 kDa protein 1-like | Rattus norvegicus (Rat) | SS |
| P0DMW0 | Hspa1a | Heat shock 70 kDa protein 1A | Rattus norvegicus (Rat) | SS |
| P0DMW1 | Hspa1b | Heat shock 70 kDa protein 1B | Rattus norvegicus (Rat) | SS |
| P09446 | hsp-1 | Heat shock protein hsp-1 | Caenorhabditis elegans | SS |
| P26413 | HSP70 | Heat shock 70 kDa protein | Glycine max (Soybean) (Glycine hispida) | SS |
| O65719 | HSP70-3 | Heat shock 70 kDa protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P22954 | HSP70-2 | Heat shock 70 kDa protein 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9C7X7 | HSP70-18 | Heat shock 70 kDa protein 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LHA8 | HSP70-4 | Heat shock 70 kDa protein 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9S9N1 | HSP70-5 | Heat shock 70 kDa protein 5 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P22953 | HSP70-1 | Heat shock 70 kDa protein 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P24629 | HSC-I | Heat shock cognate 70 kDa protein 1 | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS |
| P27322 | HSC-2 | Heat shock cognate 70 kDa protein 2 | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS |
| Q5RGE6 | hspa14 | Heat shock 70 kDa protein 14 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q90473 | hspa8 | Heat shock cognate 71 kDa protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKAAAIGID | LGTTYSCVGV | FQHGKVEIIA | NDQGNRTTPS | YVAFTDTERL | IGDAAKNQVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNPQNTVFDA | KRLIGRKFGD | PVVQSDMKHW | PFQVINDGDK | PKVQVSYKGE | TKAFYPEEIS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMVLTKMKEI | AEAYLGYPVT | NAVITVPAYF | NDSQRQATKD | AGVIAGLNVL | RIINEPTAAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IAYGLDRTGK | GERNVLIFDL | GGGTFDVSIL | TIDDGIFEVK | ATAGDTHLGG | EDFDNRLVNH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVEEFKRKHK | KDISQNKRAV | RRLRTACERA | KRTLSSSTQA | SLEIDSLFEG | IDFYTSITRA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RFEELCSDLF | RSTLEPVEKA | LRDAKLDKAQ | IHDLVLVGGS | TRIPKVQKLL | QDFFNGRDLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KSINPDEAVA | YGAAVQAAIL | MGDKSENVQD | LLLLDVAPLS | LGLETAGGVM | TALIKRNSTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PTKQTQIFTT | YSDNQPGVLI | QVYEGERAMT | KDNNLLGRFE | LSGIPPAPRG | VPQIEVTFDI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DANGILNVTA | TDKSTGKANK | ITITNDKGRL | SKEEIERMVQ | EAEKYKAEDE | VQRERVSAKN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ALESYAFNMK | SAVEDEGLKG | KISEADKKKV | LDKCQEVISW | LDANTLAEKD | EFEHKRKELE |
| 610 | 620 | 630 | 640 | ||
| QVCNPIISGL | YQGAGGPGPG | GFGAQGPKGG | SGSGPTIEEV | D |