P25685
Gene name |
DNAJB1 (DNAJ1, HDJ1, HSPF1) |
Protein name |
DnaJ homolog subfamily B member 1 |
Names |
DnaJ protein homolog 1, Heat shock 40 kDa protein 1, HSP40, Heat shock protein 40, Human DnaJ protein 1, hDj-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3337 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
15 structures for P25685
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1HDJ | NMR | - | A | 1-76 | PDB |
| 2QLD | X-ray | 270 A | A | 158-340 | PDB |
| 3AGX | X-ray | 185 A | A/B | 161-340 | PDB |
| 3AGY | X-ray | 185 A | A/B | 161-340 | PDB |
| 3AGZ | X-ray | 251 A | A/B | 151-340 | PDB |
| 4WB7 | X-ray | 190 A | A/B | 2-70 | PDB |
| 6BYR | X-ray | 366 A | A/C | 2-70 | PDB |
| 6WJF | EM | 750 A | A/B | 2-70 | PDB |
| 6WJG | EM | 620 A | A/B | 2-70 | PDB |
| 6Z5N | NMR | - | A | 1-110 | PDB |
| 7NDX | X-ray | 254 A | A | 157-340 | PDB |
| 8FE2 | X-ray | 234 A | A/B | 2-70 | PDB |
| 8FE5 | X-ray | 251 A | A/B | 2-70 | PDB |
| 8FEC | X-ray | 270 A | A/B | 2-70 | PDB |
| AF-P25685-F1 | Predicted | AlphaFoldDB |
327 variants for P25685
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472513774 CA404447718 |
3 | K>E | No |
ClinGen gnomAD |
|
|
rs1367177388 CA404447714 |
3 | K>R | No |
ClinGen gnomAD |
|
|
CA305693094 rs891936896 |
4 | D>N | No |
ClinGen TOPMed |
|
|
CA404447673 rs1207240675 |
6 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779624471 CA9254790 |
7 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA305693069 rs11540700 |
8 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA305693077 rs11540700 |
8 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 9 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305693051 rs778361162 |
9 | L>V | No |
ClinGen TOPMed |
|
|
rs368275838 CA9254787 |
10 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341043222 CA404447615 |
10 | G>D | No |
ClinGen gnomAD |
|
|
CA9254783 rs201552567 |
11 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9254784 rs201552567 |
11 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321486517 CA404447593 |
12 | A>G | No |
ClinGen gnomAD |
|
|
CA9254782 rs753791685 |
12 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1321486517 CA404447591 |
12 | A>V | No |
ClinGen gnomAD |
|
|
rs766545114 CA9254781 |
13 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458818816 CA404447571 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761547055 CA9254777 |
15 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9254778 rs761547055 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404447541 rs1413942520 |
16 | S>L | No |
ClinGen TOPMed |
|
|
CA404447525 rs774213662 |
17 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768130288 CA404447516 |
18 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768130288 COSM460049 CA9254775 |
18 | E>K | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1287106631 CA404447486 |
19 | E>D | No |
ClinGen gnomAD |
|
|
CA404447502 rs1450723645 |
19 | E>K | No |
ClinGen gnomAD |
|
|
CA404447455 rs1382310400 |
21 | K>N | No |
ClinGen TOPMed |
|
|
rs749040460 CA404447433 |
23 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749040460 CA9254774 |
23 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447409 rs774852640 |
24 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs373251842 CA305692985 |
24 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA404447402 rs1225832152 |
25 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404447389 rs1367080747 |
26 | R>C | No |
ClinGen gnomAD |
|
|
CA9254771 rs747484683 |
26 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254772 rs747484683 |
26 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447333 rs1329583135 |
30 | R>G | No |
ClinGen gnomAD |
|
|
rs758991587 CA9254769 |
30 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748402159 CA9254768 |
31 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1002030787 CA305692939 |
33 | P>L | No |
ClinGen TOPMed |
|
|
CA404447235 rs1348811211 |
35 | K>N | No |
ClinGen TOPMed |
|
|
CA404447179 rs1172409599 |
38 | E>D | No |
ClinGen gnomAD |
|
|
rs1477463475 CA404447177 |
39 | P>A | No |
ClinGen gnomAD |
|
|
rs201570588 CA9254764 |
39 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs370382932 CA9254762 |
40 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305692919 rs555433458 |
40 | G>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9254759 rs774015686 |
42 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA404447136 rs1490195444 |
42 | E>K | No |
ClinGen TOPMed |
|
|
CA9254757 rs762488215 |
43 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9254758 rs764010316 |
43 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447099 rs1349942081 |
46 | K>E | No |
ClinGen gnomAD |
|
|
CA404447096 rs1306302394 |
46 | K>R | No |
ClinGen gnomAD |
|
|
CA9254752 rs367975514 |
47 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404447085 rs369777056 |
48 | I>L | No |
ClinGen TOPMed |
|
|
rs748754745 CA404447081 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254750 rs199815171 |
48 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1611673 CA305692838 rs369777056 |
48 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1172513421 CA404447076 |
49 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404447080 rs1422551441 COSM709780 |
49 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs773831291 CA9254745 |
52 | Y>* | No |
ClinGen ExAC |
|
|
rs756342083 CA404447038 |
55 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756342083 CA9254743 |
55 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447032 rs1483970108 |
56 | S>G | No |
ClinGen gnomAD |
|
|
rs1233386964 CA404447030 |
56 | S>N | No |
ClinGen gnomAD |
|
|
rs757131921 CA9254740 |
59 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558398911 CA9254739 |
59 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1284141662 CA404446987 |
62 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9254738 rs763763598 |
62 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1335325642 CA404446961 |
66 | R>C | No |
ClinGen gnomAD |
|
|
rs141580276 CA9254732 |
67 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759266426 CA9254734 |
67 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1370569162 CA404446949 |
68 | G>W | No |
ClinGen TOPMed |
|
|
rs376653817 CA9254689 |
73 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263079262 CA404446480 |
74 | G>A | No |
ClinGen TOPMed |
|
|
rs1355201022 CA404446475 |
75 | S>N | No |
ClinGen TOPMed |
|
|
rs766997470 CA9254686 |
76 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261966987 CA404446459 |
78 | S>G | No |
ClinGen TOPMed |
|
|
rs1300191782 CA404446454 |
78 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346811072 CA404446444 |
80 | G>R | No |
ClinGen gnomAD |
|
|
rs763431752 CA9254685 |
81 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254684 rs528346099 |
82 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404446425 rs1599380163 |
83 | G>C | No |
ClinGen Ensembl |
|
|
rs1159723995 CA404446415 |
85 | A>T | No |
ClinGen TOPMed |
|
|
CA9254682 rs759842362 |
86 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369749322 CA9254681 |
86 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376056897 CA9254680 |
87 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599380145 CA404446398 |
88 | T>A | No |
ClinGen Ensembl |
|
|
rs747261359 CA9254679 |
88 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446388 rs1254636737 |
89 | S>F | No |
ClinGen gnomAD |
|
|
CA305691772 rs768632960 |
90 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392387346 CA404446379 |
91 | S>G | No |
ClinGen TOPMed |
|
|
rs1483115469 CA404446375 |
91 | S>N | No |
ClinGen gnomAD |
|
|
CA404446365 rs1254667428 |
92 | Y>* | No |
ClinGen gnomAD |
|
|
CA404446363 rs1207579075 COSM3742777 |
93 | T>A | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA404446359 rs1352192209 |
93 | T>I | No |
ClinGen TOPMed |
|
|
rs778946514 CA9254675 |
95 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446327 rs1359624363 |
98 | P>S | No |
ClinGen TOPMed |
|
|
rs370822819 CA9254671 |
99 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370822819 CA9254670 |
99 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9254672 rs779780963 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373025639 CA9254667 |
101 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756719881 CA9254668 |
101 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446287 rs1471664346 |
104 | E>A | No |
ClinGen gnomAD |
|
|
CA404446265 rs1423811338 |
107 | G>C | No |
ClinGen gnomAD |
|
|
CA305691734 rs868529739 |
108 | G>S | No |
ClinGen TOPMed |
|
|
CA404446246 rs1568380218 |
110 | N>S | No |
ClinGen Ensembl |
|
|
CA9254662 rs760929049 |
111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA404446236 rs1263403047 |
112 | F>I | No |
ClinGen gnomAD |
|
|
rs1207492505 CA404446221 |
113 | D>E | No |
ClinGen gnomAD |
|
|
CA9254659 rs761928598 |
116 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162923772 CA404446199 |
117 | G>R | No |
ClinGen TOPMed |
|
| rs1239666815 | 117 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9254658 rs140996277 |
119 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298506333 CA404446184 |
119 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA305691684 rs376854236 |
120 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749246039 CA9254656 |
121 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042130283 CA305691672 |
121 | G>R | No |
ClinGen TOPMed |
|
|
rs769519959 CA9254654 |
127 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254655 rs779880650 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751000296 CA9254650 |
130 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756913687 CA9254651 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs575725653 CA305691642 |
131 | F>C | No |
ClinGen 1000Genomes |
|
|
COSM991916 rs532172007 CA9254649 |
131 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754350664 CA9254647 |
132 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197923450 CA404446079 |
133 | G>C | No |
ClinGen TOPMed |
|
|
rs760907452 CA9254645 |
135 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9254646 rs766733011 |
135 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753013282 CA9254644 |
136 | M>V | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767783285 CA9254643 |
137 | G>D | No |
ClinGen ExAC |
|
| TCGA novel | 137 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413284083 CA404446018 |
138 | M>L | No |
ClinGen TOPMed |
|
|
rs1413284083 CA404446016 |
138 | M>V | No |
ClinGen TOPMed |
|
|
rs774560970 CA9254641 |
139 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762921008 CA404445986 |
140 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9254640 rs768909513 |
140 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9254639 rs762921008 |
140 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359847893 CA404445973 |
141 | F>C | No |
ClinGen gnomAD |
|
|
rs769796405 CA9254637 |
143 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404445931 rs1398551866 |
144 | V>G | No |
ClinGen TOPMed |
|
|
rs745589757 CA9254636 |
144 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404445916 rs780967565 |
145 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1318982440 CA404445903 |
146 | F>C | No |
ClinGen gnomAD |
|
|
CA305691585 rs151186891 |
147 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs151186891 CA404445890 |
147 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200218269 CA9254633 |
148 | R>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA305691566 rs201408385 |
150 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA305691568 rs201408385 |
150 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9254632 rs142178968 |
150 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9254631 rs574927325 |
151 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404445850 rs574927325 |
151 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9254629 rs780375642 |
153 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404445789 rs750748627 |
156 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254627 rs750748627 |
156 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404445784 rs1266201789 |
156 | A>V | No |
ClinGen gnomAD |
|
|
rs373095952 CA9254625 |
158 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305691529 rs955434760 |
159 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764446419 CA9254623 |
162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775649881 CA9254621 |
163 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404445718 rs1329417226 |
163 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404445721 rs775649881 |
163 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254619 rs553112983 |
165 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404445700 COSM1523798 rs776395351 |
166 | H>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404445702 rs1412022074 |
166 | H>R | No |
ClinGen gnomAD |
|
|
CA9254615 rs368973570 |
167 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9254617 rs770760423 |
167 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9254614 rs771777358 |
168 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778551714 CA9254612 |
173 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1202117106 CA404445651 |
174 | E>D | No |
ClinGen gnomAD |
|
|
CA9254611 rs756568093 |
175 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA404445614 rs1224241023 |
179 | C>W | No |
ClinGen gnomAD |
|
| rs757193946 | 182 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599379666 CA404445570 |
185 | I>T | No |
ClinGen Ensembl |
|
|
rs1286980191 CA404445573 |
185 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9254606 rs751998524 |
186 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751998524 CA404445563 |
186 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758647493 CA9254604 |
187 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA305691454 rs1017362665 |
189 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs376959865 CA9254601 |
190 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9254599 rs534990611 |
191 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760412625 CA9254598 |
192 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA305691425 rs868417170 |
192 | P>L | No |
ClinGen Ensembl |
|
|
rs771619426 CA9254597 |
193 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs771619426 CA9254596 |
193 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773713356 CA9254594 |
196 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1275237222 CA404445498 |
197 | I>T | No |
ClinGen TOPMed |
|
|
rs748841793 CA9254592 |
198 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA404445485 rs1328538533 |
199 | N>I | No |
ClinGen gnomAD |
|
|
rs202063146 CA9254588 |
201 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9254587 rs202063146 |
201 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9254589 rs202063146 |
201 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9254586 rs753009308 |
203 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367344143 CA404445456 |
203 | I>M | No |
ClinGen gnomAD |
|
|
rs753009308 CA404445461 |
203 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254582 rs766245306 |
207 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404445419 rs1156338465 |
209 | K>T | No |
ClinGen gnomAD |
|
|
rs1372071235 CA404445410 |
210 | K>R | No |
ClinGen gnomAD |
|
|
CA404445403 rs1218935394 |
211 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404445333 rs1248818343 |
221 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9254576 rs768218111 |
222 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404445313 rs1464662129 |
224 | G>R | No |
ClinGen gnomAD |
|
|
rs1172485177 CA404445303 |
225 | D>A | No |
ClinGen TOPMed |
|
|
rs775147909 CA9254574 COSM3937896 |
225 | D>E | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771556939 CA9254573 |
226 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs144442851 CA9254572 |
227 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599379418 CA404445293 |
227 | T>P | No |
ClinGen Ensembl |
|
|
rs772524581 CA9254570 |
229 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA305691311 rs761197816 |
231 | I>M | No |
ClinGen gnomAD |
|
|
CA9254568 rs369699868 |
231 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360848056 CA404445261 |
232 | P>A | No |
ClinGen gnomAD |
|
|
rs1178145050 CA404445239 |
235 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9254567 rs755205651 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367631765 CA305691303 |
236 | V>I | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 238 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404445223 rs1433767205 |
238 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA305691279 rs113305966 |
244 | H>L | No |
ClinGen Ensembl |
|
|
CA305691287 rs113305966 |
244 | H>R | No |
ClinGen Ensembl |
|
|
CA305691273 rs946484777 |
245 | N>D | No |
ClinGen TOPMed |
|
|
rs150659482 CA9254562 |
245 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292355169 CA404445160 |
247 | F>L | No |
ClinGen TOPMed |
|
|
CA404445153 rs1599379274 |
248 | K>Q | No |
ClinGen Ensembl |
|
|
CA404445133 rs1188306980 |
250 | D>G | No |
ClinGen gnomAD |
|
|
rs1417674736 CA404445138 |
250 | D>N | No |
ClinGen gnomAD |
|
|
rs1417674736 CA404445136 |
250 | D>Y | No |
ClinGen gnomAD |
|
|
CA404445128 rs1486220362 |
251 | G>S | No |
ClinGen gnomAD |
|
|
CA9254557 rs775122962 |
252 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773728006 CA9254554 |
256 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs539047458 CA9254553 |
257 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568962152 CA305691239 |
258 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1211427373 CA404445082 |
258 | A>V | No |
ClinGen gnomAD |
|
|
CA9254552 rs748486862 |
259 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779148550 CA404445076 CA9254551 |
259 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768852879 CA9254550 |
261 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749561047 CA9254549 |
262 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756147811 CA9254547 |
263 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765857048 CA9254514 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs144022754 CA9254513 |
266 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404444882 rs1437965400 |
269 | C>Y | No |
ClinGen TOPMed |
|
|
CA305690860 rs890088956 |
272 | N>T | No |
ClinGen TOPMed |
|
|
CA9254511 rs764609404 |
273 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404444833 rs1158083531 |
273 | V>I | No |
ClinGen gnomAD |
|
|
rs763247276 CA9254510 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746137932 CA9254507 |
276 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254505 rs770952866 |
277 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9254503 rs777801014 |
278 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758421270 CA9254502 |
280 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM991911 rs552175454 CA9254501 |
280 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404444744 rs1312725509 |
281 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404444747 rs1358463898 |
281 | I>V | No |
ClinGen gnomAD |
|
|
rs1248373954 CA404444741 |
282 | P>A | No |
ClinGen gnomAD |
|
|
rs1248373954 CA404444740 |
282 | P>S | No |
ClinGen gnomAD |
|
|
CA9254498 rs370485830 |
283 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374296355 CA9254496 |
284 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9254495 rs374296355 |
284 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305690761 rs941823539 |
285 | F>L | No |
ClinGen TOPMed |
|
|
CA9254494 rs764521482 |
287 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765566260 CA404444693 |
289 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254492 rs753050653 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9254490 rs759769250 |
290 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368711011 CA404444687 |
290 | R>S | No |
ClinGen gnomAD |
|
|
CA404444690 rs759769250 |
290 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305690676 rs938141167 |
291 | P>R | No |
ClinGen TOPMed |
|
|
rs776673751 CA9254489 |
291 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444680 rs1263313620 |
292 | G>C | No |
ClinGen gnomAD |
|
|
CA9254487 rs760777348 |
292 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA9254485 rs772131060 |
294 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254486 rs143320658 COSM330692 |
294 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748154927 CA404444664 |
295 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778737677 CA9254483 |
295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444647 rs1269803421 |
298 | P>A | No |
ClinGen gnomAD |
|
|
rs148288780 CA404444644 |
298 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9254482 rs148288780 |
298 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404444614 rs1333849588 |
303 | P>S | No |
ClinGen TOPMed |
|
|
CA404444608 rs1404811853 |
304 | L>F | No |
ClinGen gnomAD |
|
|
CA404444600 rs1259860352 |
305 | P>L | No |
ClinGen TOPMed |
|
|
CA9254480 rs370674842 |
305 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326696282 CA404444595 |
306 | K>R | No |
ClinGen gnomAD |
|
|
rs1436026537 CA404444582 |
308 | P>H | No |
ClinGen TOPMed |
|
|
CA9254478 rs749934387 |
309 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444579 rs749934387 |
309 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780742552 CA9254477 |
310 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758885471 CA9254476 |
311 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254475 rs377564300 |
311 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9254474 rs377564300 |
311 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9254472 rs143246504 |
313 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404444553 rs1480047284 |
313 | D>V | No |
ClinGen gnomAD |
|
|
CA9254471 rs766443671 |
314 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444529 rs1437276279 |
317 | E>Q | No |
ClinGen gnomAD |
|
|
rs773412227 CA9254469 |
318 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA404444520 rs1568379091 |
318 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 319 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404444514 rs1272110558 |
319 | E>Q | No |
ClinGen gnomAD |
|
|
rs1177508105 CA404444507 |
320 | V>L | No |
ClinGen TOPMed |
|
|
CA9254468 rs199744224 |
321 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA9254464 rs748971999 |
323 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1400322538 CA404444479 |
324 | E>G | No |
ClinGen TOPMed |
|
|
rs377706903 CA9254462 |
324 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404444475 rs1406169543 |
325 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9254461 rs745573140 |
326 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780644757 CA9254460 |
327 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327285879 CA404444460 |
327 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305690468 rs561895564 |
328 | Q>R | No |
ClinGen Ensembl |
|
|
rs532564939 CA9254457 |
329 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138234955 CA9254456 |
330 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1201495369 CA404444428 |
332 | T>I | No |
ClinGen gnomAD |
|
|
CA404444430 rs1201495369 |
332 | T>N | No |
ClinGen gnomAD |
|
|
rs750634405 CA9254451 |
333 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9254452 rs756381480 |
333 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1439733347 CA404444421 |
334 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404444416 rs1423328946 |
335 | E>Q | No |
ClinGen gnomAD |
|
|
rs767875619 CA9254450 |
336 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9254449 rs201154155 |
336 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9254444 rs1555725397 |
337 | V>A | No |
ClinGen Ensembl |
|
|
CA9254446 rs150137137 |
337 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9254447 rs150137137 |
337 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220264154 CA404444398 |
338 | L>F | No |
ClinGen gnomAD |
|
|
rs775128939 CA9254443 |
339 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444385 rs1415639159 |
340 | I>R | No |
ClinGen TOPMed |
|
|
rs769622044 CA9254442 |
340 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768069872 CA9254441 |
341 | I>L | No |
ClinGen ExAC gnomAD |
No associated diseases with P25685
Functions
11 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. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| sperm head | The part of the late spermatid or spermatozoon that contains the nucleus and acrosome. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase activator activity | Binds to and increases the activity of an ATP hydrolysis activity. |
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| Hsp70 protein binding | Binding to a Hsp70 protein, heat shock proteins around 70kDa in size. |
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| transcription regulator inhibitor activity | A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. |
| unfolded protein binding | Binding to an unfolded protein. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| 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 transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of ATP-dependent activity | Any process that activates or increases the rate of an ATP-dependent activity. |
| regulation of cellular response to heat | Any process that modulates the frequency, rate or extent of cellular response to heat. |
| response to unfolded protein | 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 an unfolded protein stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKDYYQTLG | LARGASDEEI | KRAYRRQALR | YHPDKNKEPG | AEEKFKEIAE | AYDVLSDPRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REIFDRYGEE | GLKGSGPSGG | SGGGANGTSF | SYTFHGDPHA | MFAEFFGGRN | PFDTFFGQRN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GEEGMDIDDP | FSGFPMGMGG | FTNVNFGRSR | SAQEPARKKQ | DPPVTHDLRV | SLEEIYSGCT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKMKISHKRL | NPDGKSIRNE | DKILTIEVKK | GWKEGTKITF | PKEGDQTSNN | IPADIVFVLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKPHNIFKRD | GSDVIYPARI | SLREALCGCT | VNVPTLDGRT | IPVVFKDVIR | PGMRRKVPGE |
| 310 | 320 | 330 | |||
| GLPLPKTPEK | RGDLIIEFEV | IFPERIPQTS | RTVLEQVLPI |