P23381
PR
Gene name |
WARS1 |
Protein name |
Tryptophan--tRNA ligase, cytoplasmic |
Names |
Interferon-induced protein 53, IFP53, Tryptophanyl-tRNA synthetase, TrpRS, hWRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7453 |
EC number |
6.1.1.2: Ligases forming aminoacyl-tRNA and related compounds |
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
14 structures for P23381
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1O5T | X-ray | 250 A | A | 94-471 | PDB |
| 1R6T | X-ray | 210 A | A/B | 1-466 | PDB |
| 1R6U | X-ray | 200 A | A/B | 48-471 | PDB |
| 1ULH | X-ray | 231 A | A/B | 82-471 | PDB |
| 2AKE | X-ray | 310 A | A | 94-471 | PDB |
| 2AZX | X-ray | 280 A | A/B | 1-471 | PDB |
| 2DR2 | X-ray | 300 A | A | 94-471 | PDB |
| 2QUH | X-ray | 240 A | A/B | 1-471 | PDB |
| 2QUI | X-ray | 240 A | A/B | 1-471 | PDB |
| 2QUJ | X-ray | 242 A | A/B | 1-471 | PDB |
| 2QUK | X-ray | 280 A | A | 1-471 | PDB |
| 5UJI | X-ray | 279 A | A/B | 97-471 | PDB |
| 5UJJ | X-ray | 210 A | A/B | 1-471 | PDB |
| AF-P23381-F1 | Predicted | AlphaFoldDB |
298 variants for P23381
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001200896 rs1895599490 |
138 | F>Y | Neuronopathy, distal hereditary motor, type 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390980398 RCV000509593 RCV001197135 VAR_080407 rs770003315 |
257 | H>R | Neuronopathy, distal hereditary motor, type 9 HMN9; decreased tryptophan-tRNA ligase activity; dominant negative effect; decreased general protein synthesis; decreased cell viability; no effect on homodimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
rs1894240526 RCV001251628 |
314 | D>G | Neuronopathy, distal hereditary motor, type 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1168127895 CA390986865 |
3 | N>S | No |
ClinGen gnomAD |
|
|
CA7345436 rs753456052 |
4 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756710188 CA266830829 |
4 | S>R | No |
ClinGen Ensembl |
|
|
CA7345435 rs766106321 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7345433 rs772843016 |
7 | A>T | Variant assessed as Somatic; 4.687e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA266830794 rs890695453 |
9 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs143974221 RCV001699486 CA7345431 RCV000964530 |
9 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7345430 rs774852124 |
11 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1475201801 CA390986667 |
14 | N>K | No |
ClinGen TOPMed |
|
|
rs780184424 CA7345427 |
14 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1270335 rs147088390 CA7345426 |
17 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7345425 rs746009234 |
17 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA266830761 rs893565348 |
18 | T>A | No |
ClinGen TOPMed |
|
|
rs1375920766 CA390986601 |
19 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA390986593 rs1595462429 |
19 | Q>R | No |
ClinGen Ensembl |
|
|
rs781266196 CA7345424 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs146689917 CA7345422 COSM697098 |
23 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA390986503 rs146689917 |
23 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345420 rs754777877 |
24 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373707656 CA7345419 |
24 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345418 rs766199305 |
24 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7345417 rs142127615 |
25 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345416 rs576407869 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA390986417 rs1257134602 |
29 | G>* | No |
ClinGen gnomAD |
|
|
CA390986387 rs1199890086 |
30 | N>S | No |
ClinGen gnomAD |
|
|
rs370081524 CA7345414 COSM1371973 |
31 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7345371 rs757808150 |
34 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765712404 CA7345369 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1321279225 CA390984123 |
36 | I>V | No |
ClinGen gnomAD |
|
|
CA390984107 rs759934254 |
37 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7345368 rs759934254 |
37 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs532073826 CA390984097 |
38 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532073826 CA7345367 |
38 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390984093 rs1277451081 |
38 | S>Y | No |
ClinGen gnomAD |
|
|
CA7345366 rs186892858 |
42 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7345363 rs371310773 CA266826640 |
44 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371310773 CA7345364 |
44 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422358319 CA390983937 |
51 | K>E | No |
ClinGen gnomAD |
|
|
CA7345360 rs769820335 |
51 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs2234520 CA7345359 |
52 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA266826615 rs2234520 |
52 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_052406 CA7345357 rs2234521 |
54 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7345358 rs2234521 |
54 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM199458 rs2234522 CA7345356 |
54 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA266826600 rs1053689389 |
55 | G>E | No |
ClinGen TOPMed |
|
|
rs757954125 CA390983906 |
56 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7345353 rs752171693 |
57 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7345352 rs779464091 |
59 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA390983881 rs1465845626 |
60 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1465845626 CA390983883 |
60 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755464863 CA7345351 |
62 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA390983851 rs1219447426 |
64 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA266826561 rs910767981 |
65 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs374643543 CA7345349 CA7345348 |
65 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345347 rs750678493 |
66 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA390983844 rs750678493 |
66 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA390983840 rs1218374535 |
67 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368552198 CA390983834 |
68 | A>T | No |
ClinGen gnomAD |
|
|
CA390983815 rs1468403668 |
71 | S>G | No |
ClinGen TOPMed |
|
|
COSM1607323 CA390983804 rs1447143596 |
72 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1220069634 CA390983781 |
75 | P>L | No |
ClinGen TOPMed |
|
|
rs1398919999 CA390983770 |
77 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1184798113 CA390983759 |
79 | E>Q | No |
ClinGen gnomAD |
|
|
rs140996628 CA7345345 |
79 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186312286 CA390983749 |
80 | A>G | No |
ClinGen TOPMed |
|
|
CA7345344 rs774563240 |
82 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759554285 CA7345342 |
89 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1393708749 CA390983663 |
92 | T>I | No |
ClinGen gnomAD |
|
|
rs770783828 CA7345340 |
93 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7345339 rs748585136 |
94 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA266826509 rs933523034 |
95 | A>G | No |
ClinGen TOPMed |
|
|
CA390983623 rs1237801177 |
98 | I>M | No |
ClinGen gnomAD |
|
|
rs914146872 CA266826504 |
99 | D>Y | No |
ClinGen Ensembl |
|
|
rs1595448878 CA919491009 |
100 | Y>* | No |
ClinGen Ensembl |
|
|
rs1256472633 CA390983601 |
101 | D>E | No |
ClinGen gnomAD |
|
|
rs771708813 CA7345337 |
101 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417312716 CA390983584 |
104 | I>F | No |
ClinGen TOPMed |
|
|
CA390983485 rs1484613779 |
106 | R>Q | No |
ClinGen gnomAD |
|
|
CA390983487 rs1355056839 COSM949299 |
106 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs771796418 CA7345319 |
110 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566858927 CA390983420 |
111 | K>E | No |
ClinGen Ensembl |
|
|
CA7345318 rs201676413 |
113 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390983357 rs1246598354 |
115 | E>* | No |
ClinGen gnomAD |
|
|
rs1321778993 CA390983352 |
115 | E>V | No |
ClinGen gnomAD |
|
|
rs1412389611 COSM3419623 CA390983306 |
119 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768173713 CA7345316 |
119 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1276999898 CA390983279 |
121 | E>G | No |
ClinGen TOPMed |
|
|
rs377172185 CA7345315 |
121 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390983265 rs1356957656 |
122 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536312194 CA266825578 |
124 | T>I | No |
ClinGen 1000Genomes |
|
|
rs867759543 CA266825551 |
125 | G>D | No |
ClinGen Ensembl |
|
|
CA7345313 rs373258156 |
125 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929781237 CA266825537 |
128 | P>L | No |
ClinGen Ensembl |
|
|
CA7345311 rs781696328 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764391035 CA7345308 |
133 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA266825520 rs925136221 |
133 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA266825511 rs985886508 |
134 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7345307 rs758547020 |
135 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200626784 CA7345306 |
136 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390983044 rs1372142678 |
137 | F>Y | No |
ClinGen gnomAD |
|
|
rs1008193311 CA266822138 |
142 | D>N | No |
ClinGen TOPMed |
|
|
CA390981879 rs1346443893 |
142 | D>V | No |
ClinGen TOPMed |
|
|
CA390981839 rs1566853177 COSM949298 |
143 | M>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1197465536 CA390981787 |
145 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390981752 rs1339236889 |
148 | D>H | No |
ClinGen gnomAD |
|
|
CA7345288 rs201005516 |
149 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758536180 CA7345287 |
151 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566853121 CA390981633 |
154 | K>M | No |
ClinGen Ensembl |
|
|
rs765236267 CA7345285 |
154 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs750380693 CA7345283 |
155 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7345284 rs147330798 |
155 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439059149 CA390981590 |
157 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900952698 CA266822108 COSM1194535 |
162 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 163 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7345279 rs763791025 |
167 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA266822086 rs371001302 |
168 | A>T | No |
ClinGen Ensembl |
|
|
rs762520882 CA7345278 |
169 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA390981447 rs762520882 |
169 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775173042 CA7345277 |
171 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390981399 rs1191342508 |
174 | L>F | No |
ClinGen gnomAD |
|
|
COSM949296 rs199806688 CA7345274 |
175 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771562838 CA7345273 |
178 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390981313 rs1317185070 |
184 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7345248 rs768914572 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7345246 rs538357988 |
189 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs778165849 CA266821585 |
191 | L>S | No |
ClinGen Ensembl |
|
|
CA7345245 rs749425915 |
194 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs780118271 CA7345244 |
196 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489462556 CA390981232 |
196 | T>M | No |
ClinGen gnomAD |
|
|
CA390981194 rs1248625678 |
201 | Y>F | No |
ClinGen TOPMed |
|
|
CA390981183 rs1441635189 |
203 | W>L | No |
ClinGen TOPMed |
|
|
CA7345239 rs752533088 |
209 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374474920 CA7345238 |
212 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390981108 rs1171657157 |
214 | Y>N | No |
ClinGen TOPMed |
|
|
CA390981098 rs1291341622 |
215 | A>D | No |
ClinGen gnomAD |
|
|
rs1360717395 CA390981091 |
216 | V>A | No |
ClinGen TOPMed |
|
|
rs753475793 CA7345236 |
224 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428398376 CA390981010 |
228 | D>N | No |
ClinGen gnomAD |
|
|
CA390980997 rs1370639765 |
229 | I>N | No |
ClinGen TOPMed |
|
|
CA390980965 rs138324067 |
234 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345235 rs138324067 |
234 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390980928 rs1281292903 |
239 | D>G | No |
ClinGen TOPMed |
|
|
rs182794896 CA7345233 |
241 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7345211 rs764468200 |
244 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778273420 CA7345210 |
245 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA266817488 rs952059032 |
246 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1202409402 CA390980433 |
252 | V>G | No |
ClinGen gnomAD |
|
|
rs201895343 CA266817483 |
253 | K>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7345207 rs770003315 COSM352503 |
257 | H>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745994082 CA7345206 |
258 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1372043985 CA390980384 |
260 | F>L | No |
ClinGen gnomAD |
|
|
CA7345204 rs370820642 |
261 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776785176 CA7345205 |
261 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408906139 CA390980327 |
268 | G>S | No |
ClinGen TOPMed |
|
|
rs377746467 CA7345201 |
270 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs976918320 CA266817415 |
271 | D>G | No |
ClinGen TOPMed |
|
|
rs749060530 CA266817428 |
271 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749060530 CA7345200 |
271 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143639252 CA7345198 |
273 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390980284 rs1287501951 |
274 | C>Y | No |
ClinGen gnomAD |
|
|
rs749981930 CA7345197 |
275 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1183519768 CA390980193 |
285 | A>T | No |
ClinGen TOPMed |
|
|
rs745562069 CA7345177 |
287 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA266812542 rs866716349 |
288 | S>F | No |
ClinGen Ensembl |
|
|
CA7345176 rs780688625 |
290 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7345175 rs756834453 |
291 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA266812522 rs941707983 |
292 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7345173 rs778313444 |
295 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7345172 rs549798901 |
298 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7345171 rs549798901 |
298 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193765106 CA390980101 |
299 | D>G | No |
ClinGen gnomAD |
|
|
CA390980105 rs1566840395 |
299 | D>N | No |
ClinGen Ensembl |
|
|
rs1383140102 CA390980093 |
300 | R>M | No |
ClinGen gnomAD |
|
|
CA390980087 rs1287365395 |
301 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390980085 rs1287365395 |
301 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754137445 CA7345168 |
307 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1164124733 CA390980041 |
308 | P>A | No |
ClinGen gnomAD |
|
|
CA266812513 rs11541754 |
309 | C>F | No |
ClinGen Ensembl |
|
|
CA390980018 rs1431620444 |
311 | I>T | No |
ClinGen TOPMed |
|
|
rs1308530537 CA390980011 |
312 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390979922 rs1595412416 |
322 | D>E | No |
ClinGen Ensembl |
|
|
rs1196944267 CA390979924 |
322 | D>G | No |
ClinGen gnomAD |
|
|
rs962736815 CA266812009 |
323 | V>I | No |
ClinGen TOPMed |
|
|
rs1321370482 CA390979915 |
324 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390979889 rs761932861 |
328 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761932861 CA7345145 |
328 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566839396 CA390979880 |
329 | Y>S | No |
ClinGen Ensembl |
|
|
rs11541753 CA7345144 |
330 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1337658221 CA390979852 |
333 | A>V | No |
ClinGen gnomAD |
|
|
rs9453 CA390979846 |
335 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390979845 rs9453 |
335 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776307394 CA7345141 |
336 | H>Y | No |
ClinGen ExAC |
|
|
rs770693716 CA7345140 |
338 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267113876 CA390979786 |
344 | Q>R | No |
ClinGen TOPMed |
|
|
rs994356679 CA266811961 |
345 | G>S | No |
ClinGen TOPMed |
|
|
rs771622592 CA7345137 |
347 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs747624673 CA7345136 |
348 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1482630444 CA390979737 |
351 | S>N | No |
ClinGen TOPMed |
|
|
CA390979735 rs1595412143 |
351 | S>R | No |
ClinGen Ensembl |
|
|
CA7345135 rs779540514 |
353 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202173767 CA7345133 |
354 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390979719 rs1181299479 |
354 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7345132 rs780281966 |
355 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1437700113 CA390979712 |
355 | P>S | No |
ClinGen gnomAD |
|
|
rs756503817 CA7345131 |
356 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA390979704 rs1486228798 |
356 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs756503817 CA390979705 |
356 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA390979699 rs1232436815 |
357 | S>C | No |
ClinGen gnomAD |
|
|
rs750693788 CA7345130 |
357 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767823818 CA7345129 |
360 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1000397546 CA266811770 |
363 | D>N | No |
ClinGen TOPMed |
|
|
CA390979657 rs1333857423 |
364 | T>A | No |
ClinGen gnomAD |
|
|
rs1314683284 CA390979655 |
364 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1374676012 CA390979652 |
365 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390979622 rs1485276689 |
369 | K>E | No |
ClinGen Ensembl |
|
|
rs1280569057 CA390979577 |
373 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3419621 rs760155915 CA7345072 |
376 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390979524 rs1196611039 |
381 | R>K | No |
ClinGen TOPMed |
|
|
CA7345069 rs747369344 |
382 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7345068 rs772322833 |
384 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7345065 rs149689884 |
385 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390979500 rs748258652 |
385 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7345066 rs748258652 |
385 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7345064 rs755007002 |
390 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1803791 CA266807264 |
391 | G>V | No |
ClinGen Ensembl |
|
|
CA390979447 rs1357653062 |
392 | G>A | No |
ClinGen gnomAD |
|
|
rs574471285 CA7345063 |
396 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA266807241 rs1036427682 |
401 | M>T | No |
ClinGen TOPMed |
|
|
CA266807238 rs909129151 |
404 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 406 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7345060 rs751363632 |
406 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390979345 rs1403250371 |
407 | L>F | No |
ClinGen TOPMed |
|
|
rs758076089 CA7345058 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1054605078 CA266807214 |
410 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7345055 rs150963629 |
411 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7345054 rs777322305 |
412 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM949294 rs1400283241 CA390979299 |
414 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7345052 rs535638524 |
416 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390979276 rs1344743717 |
417 | R>G | No |
ClinGen gnomAD |
|
|
COSM551912 CA7345050 rs772254998 |
417 | R>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs550196955 CA7345010 |
419 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550196955 CA266805577 |
419 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7345007 rs751907243 |
421 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7345008 rs751907243 |
421 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390979228 rs775527812 |
422 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7345006 rs764382529 |
422 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7345005 rs763195088 |
422 | S>T | No |
ClinGen ExAC |
|
|
rs112867811 CA266805563 |
425 | M>L | No |
ClinGen Ensembl |
|
|
rs377079808 CA7345003 |
425 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA266805544 rs748720876 |
426 | L>V | No |
ClinGen Ensembl |
|
|
CA390979196 rs773270850 |
428 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7345001 rs773270850 |
428 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196714792 CA390979168 |
432 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390979166 rs976993442 |
432 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs976993442 CA266805519 |
432 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7344999 rs72713916 |
433 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390979147 rs1236849813 |
435 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7344995 VAR_080408 rs139914390 |
443 | A>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7344996 rs139914390 |
443 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755689812 CA7344994 |
444 | E>G | No |
ClinGen ExAC |
|
|
CA7344993 rs749896038 |
448 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7344992 rs751453486 |
448 | R>Q | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749896038 CA390979064 |
448 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1408971790 CA390979059 |
449 | R>C | No |
ClinGen gnomAD |
|
|
rs372639869 CA7344991 |
449 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390979051 rs1314329360 |
450 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1434881903 CA390979041 |
451 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7344988 rs758740628 |
452 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7344989 rs764466208 COSM1514317 |
452 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764466208 CA7344990 |
452 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765377416 CA7344986 |
453 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA266805419 rs977484422 |
453 | T>S | No |
ClinGen Ensembl |
|
| VAR_036466 | 455 | E>D | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs766502615 CA7344983 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA266805389 rs952755077 |
459 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7344982 rs140956308 |
462 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390978969 rs140956308 |
462 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7344981 rs774379129 |
464 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7344977 rs79907075 |
469 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227783893 CA390978920 |
470 | F>S | No |
ClinGen gnomAD |
|
|
CA7344976 rs745465377 |
471 | Q>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P23381
[MIM: 617721]: Neuronopathy, distal hereditary motor, 9 (HMN9)
An autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs. {ECO:0000269|PubMed:28369220}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs. {ECO:0000269|PubMed:28369220}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.2 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 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. |
| 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. |
| 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. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a kinase. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| tryptophan-tRNA ligase activity | Catalysis of the reaction: ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + L-tryptophanyl-tRNA(Trp). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| 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 protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| regulation of angiogenesis | Any process that modulates the frequency, rate or extent of angiogenesis. |
| regulation of protein ADP-ribosylation | Any process that modulates the frequency, rate or extent of protein ADP-ribosylation. Protein ADP-ribosylation is the transfer, from NAD, of ADP-ribose to protein amino acids. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
| tryptophanyl-tRNA aminoacylation | The process of coupling tryptophan to tryptophanyl-tRNA, catalyzed by tryptophanyl-tRNA synthetase. The tryptophanyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a tryptophan-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17248 | WARS1 | Tryptophan--tRNA ligase, cytoplasmic | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPNSEPASLL | ELFNSIATQG | ELVRSLKAGN | ASKDEIDSAV | KMLVSLKMSY | KAAAGEDYKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DCPPGNPAPT | SNHGPDATEA | EEDFVDPWTV | QTSSAKGIDY | DKLIVRFGSS | KIDKELINRI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ERATGQRPHH | FLRRGIFFSH | RDMNQVLDAY | ENKKPFYLYT | GRGPSSEAMH | VGHLIPFIFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KWLQDVFNVP | LVIQMTDDEK | YLWKDLTLDQ | AYSYAVENAK | DIIACGFDIN | KTFIFSDLDY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MGMSSGFYKN | VVKIQKHVTF | NQVKGIFGFT | DSDCIGKISF | PAIQAAPSFS | NSFPQIFRDR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TDIQCLIPCA | IDQDPYFRMT | RDVAPRIGYP | KPALLHSTFF | PALQGAQTKM | SASDPNSSIF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LTDTAKQIKT | KVNKHAFSGG | RDTIEEHRQF | GGNCDVDVSF | MYLTFFLEDD | DKLEQIRKDY |
| 430 | 440 | 450 | 460 | 470 | |
| TSGAMLTGEL | KKALIEVLQP | LIAEHQARRK | EVTDEIVKEF | MTPRKLSFDF | Q |