Q14197
Gene name |
MRPL58 |
Protein name |
Peptidyl-tRNA hydrolase ICT1, mitochondrial |
Names |
39S ribosomal protein L58, mitochondrial, MRP-L58, Digestion substraction 1, DS-1, Immature colon carcinoma transcript 1 protein, Mitochondrial large ribosomal subunit protein mL62 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3396 |
EC number |
3.1.1.29: Carboxylic ester hydrolases |
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
62 structures for Q14197
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J7Y | EM | 340 A | p | 1-206 | PDB |
| 3J9M | EM | 350 A | p | 1-206 | PDB |
| 5OOL | EM | 306 A | p | 1-206 | PDB |
| 5OOM | EM | 303 A | p | 1-206 | PDB |
| 6I9R | EM | 390 A | p | 1-206 | PDB |
| 6NU2 | EM | 390 A | p | 38-193 | PDB |
| 6NU3 | EM | 440 A | p | 1-206 | PDB |
| 6VLZ | EM | 297 A | p | 1-206 | PDB |
| 6VMI | EM | 296 A | p | 1-206 | PDB |
| 6ZM5 | EM | 289 A | p | 1-206 | PDB |
| 6ZM6 | EM | 259 A | p | 1-206 | PDB |
| 6ZS9 | EM | 400 A | p | 1-206 | PDB |
| 6ZSA | EM | 400 A | p | 1-206 | PDB |
| 6ZSB | EM | 450 A | p | 1-206 | PDB |
| 6ZSC | EM | 350 A | p | 1-206 | PDB |
| 6ZSD | EM | 370 A | p | 1-206 | PDB |
| 6ZSE | EM | 500 A | p | 1-206 | PDB |
| 6ZSG | EM | 400 A | p | 1-206 | PDB |
| 7A5F | EM | 440 A | p3 | 1-206 | PDB |
| 7A5G | EM | 433 A | p3 | 1-206 | PDB |
| 7A5H | EM | 330 A | p | 1-206 | PDB |
| 7A5I | EM | 370 A | p3 | 1-206 | PDB |
| 7A5J | EM | 310 A | p | 1-206 | PDB |
| 7A5K | EM | 370 A | p3 | 1-206 | PDB |
| 7L08 | EM | 349 A | p | 1-206 | PDB |
| 7L20 | EM | 315 A | p | 1-206 | PDB |
| 7NQL | EM | 340 A | BL | 30-206 | PDB |
| 7O9K | EM | 310 A | p | 1-206 | PDB |
| 7O9M | EM | 250 A | p | 1-205 | PDB |
| 7ODR | EM | 290 A | p | 1-206 | PDB |
| 7ODS | EM | 310 A | p | 1-206 | PDB |
| 7ODT | EM | 310 A | p | 1-206 | PDB |
| 7OF0 | EM | 220 A | p | 1-206 | PDB |
| 7OF2 | EM | 270 A | p | 1-206 | PDB |
| 7OF3 | EM | 270 A | p | 1-206 | PDB |
| 7OF4 | EM | 270 A | p | 1-206 | PDB |
| 7OF5 | EM | 290 A | p | 1-206 | PDB |
| 7OF6 | EM | 260 A | p | 1-206 | PDB |
| 7OF7 | EM | 250 A | p | 1-206 | PDB |
| 7OG4 | EM | 380 A | p | 1-206 | PDB |
| 7OI6 | EM | 570 A | p | 1-206 | PDB |
| 7OI7 | EM | 350 A | p | 1-206 | PDB |
| 7OI8 | EM | 350 A | p | 1-206 | PDB |
| 7OI9 | EM | 330 A | p | 1-206 | PDB |
| 7OIA | EM | 320 A | p | 1-206 | PDB |
| 7OIB | EM | 330 A | p | 1-206 | PDB |
| 7OIC | EM | 310 A | p | 1-206 | PDB |
| 7OID | EM | 370 A | p | 1-206 | PDB |
| 7OIE | EM | 350 A | p | 1-206 | PDB |
| 7PD3 | EM | 340 A | p | 1-206 | PDB |
| 7PO4 | EM | 256 A | p | 1-206 | PDB |
| 7QH6 | EM | 308 A | p | 1-206 | PDB |
| 7QH7 | EM | 289 A | p | 38-193 | PDB |
| 7QI4 | EM | 221 A | p | 1-206 | PDB |
| 7QI5 | EM | 263 A | p | 1-206 | PDB |
| 7QI6 | EM | 298 A | p | 1-206 | PDB |
| 8ANY | EM | 285 A | p | 1-206 | PDB |
| 8OIR | EM | 310 A | Bf | 1-206 | PDB |
| 8OIT | EM | 290 A | Bf | 1-206 | PDB |
| 8PK0 | EM | 303 A | p | 1-206 | PDB |
| 8QSJ | EM | 300 A | p | 1-206 | PDB |
| AF-Q14197-F1 | Predicted | AlphaFoldDB |
193 variants for Q14197
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400965736 rs1336254280 |
2 | A>E | No |
ClinGen TOPMed |
|
|
rs555924069 CA8756394 |
2 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201411401 CA8756395 |
4 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400965771 rs1441722722 |
4 | T>I | No |
ClinGen gnomAD |
|
|
rs201411401 CA400965760 |
4 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400965768 rs1441722722 |
4 | T>S | No |
ClinGen gnomAD |
|
|
CA400965779 rs1352673278 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746644693 CA8756397 |
5 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs368786552 CA8756399 |
6 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs368786552 CA8756398 |
6 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368786552 CA8756400 |
6 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8756402 rs773141152 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs773141152 CA400965820 |
7 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs113361561 CA400965816 |
7 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3744206 CA8756404 |
8 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8756405 VAR_020045 rs3744206 |
8 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760868507 CA8756406 |
9 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1041691905 CA293967551 |
9 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA293967555 rs866434364 |
11 | L>M | No |
ClinGen gnomAD |
|
|
rs866434364 CA400965878 |
11 | L>V | No |
ClinGen gnomAD |
|
|
rs764486662 CA8756407 |
12 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs754233014 CA8756408 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8756409 TCGA novel rs771716388 |
15 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA400965945 rs771716388 |
15 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400965987 rs1360167140 |
18 | L>V | No |
ClinGen TOPMed |
|
|
rs765677444 CA8756410 |
19 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1312437428 CA400966036 |
21 | P>L | No |
ClinGen gnomAD |
|
|
CA400966027 rs1410738212 |
21 | P>T | No |
ClinGen gnomAD |
|
|
CA400966050 rs1247581632 |
22 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400966047 rs1247581632 |
22 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1356374198 CA400966057 |
23 | A>T | No |
ClinGen gnomAD |
|
|
CA8756413 rs540669075 |
24 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400966082 rs1598663974 |
25 | C>G | No |
ClinGen Ensembl |
|
|
rs751297310 CA8756414 |
26 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1205504916 CA400966106 |
27 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400966102 rs1205504916 |
27 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1255191179 CA400966122 |
29 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400966158 rs1390601063 |
32 | K>R | No |
ClinGen TOPMed |
|
|
CA8756417 rs150811008 |
33 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755868899 CA8756418 |
33 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA400966171 rs755868899 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8756420 rs777636056 |
35 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs777636056 CA8756419 |
35 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1430618185 CA400966207 |
36 | G>R | No |
ClinGen gnomAD |
|
|
rs747055781 CA8756424 |
38 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302525108 CA400966236 |
38 | E>G | No |
ClinGen gnomAD |
|
|
CA400966243 rs1398174886 |
39 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1398174886 CA400966247 |
39 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8756425 rs776855061 |
43 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1161105204 CA400966288 |
43 | Y>D | No |
ClinGen TOPMed |
|
|
CA293967602 rs909301492 |
44 | S>N | No |
ClinGen TOPMed |
|
|
rs762091471 CA293967610 |
46 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762091471 CA8756426 |
46 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400966373 rs942067737 |
49 | Y>* | No |
ClinGen TOPMed |
|
|
CA8756428 rs772866271 |
49 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400966363 rs1228644245 |
49 | Y>S | No |
ClinGen gnomAD |
|
|
rs763485977 CA400966376 |
50 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763485977 CA8756429 |
50 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA400966391 rs1482125923 |
51 | E>K | No |
ClinGen gnomAD |
|
|
rs1201976582 CA400966416 |
53 | Q>E | No |
ClinGen gnomAD |
|
|
rs751133594 CA8756431 |
55 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1464376581 CA400966453 |
55 | S>P | No |
ClinGen gnomAD |
|
|
rs754475699 CA8756432 |
56 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400966466 rs754475699 |
56 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293967630 rs1055301281 |
57 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA293967637 rs1055301281 |
57 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 58 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400966591 rs1333725140 |
62 | P>L | No |
ClinGen TOPMed |
|
|
CA400967551 rs1598667625 |
63 | N>K | No |
ClinGen Ensembl |
|
|
CA293969170 rs955689559 |
63 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400967600 rs1269864347 |
65 | A>E | No |
ClinGen gnomAD |
|
|
CA400967599 rs1269864347 |
65 | A>V | No |
ClinGen gnomAD |
|
|
rs1317444677 CA400967622 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
CA400967629 rs1220823906 |
67 | Q>L | No |
ClinGen gnomAD |
|
|
CA8756456 rs770089302 |
69 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770089302 CA8756455 |
69 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311918581 CA775024999 |
71 | D>E | No |
ClinGen TOPMed |
|
|
CA8756457 rs372764852 |
72 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8756458 rs750357888 |
73 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755111147 CA8756459 |
75 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA293970058 rs747226298 |
76 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753423038 CA8756474 |
76 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753423038 CA400968952 |
76 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8756475 VAR_024604 rs10512599 |
77 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1447045968 CA400969002 |
78 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772439971 CA8756476 |
79 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8756477 rs750398890 |
81 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs989525100 CA293970071 |
82 | C>S | No |
ClinGen TOPMed |
|
|
CA293970073 rs915017410 |
82 | C>Y | No |
ClinGen TOPMed |
|
|
rs779805621 CA8756479 |
83 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376441798 CA8756478 |
83 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573539375 CA293970082 |
84 | S>G | No |
ClinGen Ensembl |
|
|
rs752835305 CA8756480 |
84 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs147649597 CA400969173 |
86 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8756481 rs147649597 |
86 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs975845045 CA293970090 |
87 | P>T | No |
ClinGen Ensembl |
|
|
rs771468987 CA8756485 |
88 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778120165 CA8756484 |
88 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778120165 CA8756483 |
88 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs746198873 CA8756487 |
89 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746252231 CA8756504 |
100 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1189137753 CA400969618 |
102 | R>G | No |
ClinGen gnomAD |
|
|
rs758623580 CA8756505 |
104 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1598670599 CA400969712 |
105 | L>W | No |
ClinGen Ensembl |
|
|
CA293970327 rs1054491596 |
106 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400969742 rs1598670607 |
107 | T>P | No |
ClinGen Ensembl |
|
|
CA8756506 rs780678689 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309157021 CA400969845 |
109 | E>G | No |
ClinGen TOPMed |
|
|
CA8756508 rs768262701 |
109 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747606400 CA8756510 |
110 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs147301315 CA8756511 |
112 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147301315 CA8756512 |
112 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1210226 rs902063041 CA293970340 |
112 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 113 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8756515 rs774392924 |
115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759359119 CA8756516 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026483975 CA293970354 |
116 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767525513 CA8756517 |
117 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA400970144 rs1218861833 |
119 | I>R | No |
ClinGen gnomAD |
|
|
rs757357461 CA8756519 |
120 | A>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_061767 rs34496172 CA8756520 |
122 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA293970399 rs779973202 |
123 | H>L | No |
ClinGen Ensembl |
|
|
rs1182379522 CA400970538 |
124 | K>T | No |
ClinGen gnomAD |
|
|
CA293970404 rs201529363 |
125 | N>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA400970593 CA400970589 rs1471815160 |
126 | K>N | No |
ClinGen gnomAD |
|
|
rs774048391 CA8756533 |
131 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8756535 rs767578922 |
133 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293970441 rs928056809 |
135 | L>H | No |
ClinGen TOPMed |
|
|
rs1598670859 CA400970807 |
136 | T>P | No |
ClinGen Ensembl |
|
|
rs1399023089 CA400970830 |
137 | S>Y | No |
ClinGen gnomAD |
|
|
rs1598670871 CA400970865 |
139 | S>T | No |
ClinGen Ensembl |
|
|
CA400970878 rs1334007900 |
140 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA293970444 rs1052467377 |
140 | S>N | No |
ClinGen TOPMed |
|
|
rs151335238 COSM4138161 CA8756539 |
141 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140592685 CA8756540 |
141 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151335238 CA8756538 |
141 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1316600 rs766571823 CA8756541 |
142 | Y>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8756542 rs370919315 |
143 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359580925 CA400970943 |
143 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs375880126 CA8756544 |
145 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755268601 CA8756543 |
145 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293970458 rs1044381552 |
148 | A>T | No |
ClinGen TOPMed |
|
|
CA8756545 rs755018088 |
149 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400971049 rs1440615914 |
150 | C>G | No |
ClinGen gnomAD |
|
|
CA400971047 rs1440615914 |
150 | C>R | No |
ClinGen gnomAD |
|
|
rs1262713189 CA400971122 |
155 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8756546 rs144000860 |
155 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA293970475 rs770515306 CA8756549 |
157 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1029298033 CA293970471 |
157 | M>K | No |
ClinGen TOPMed |
|
|
CA293970466 rs372813825 |
157 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8756548 rs372813825 |
157 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs113914546 CA293970480 |
162 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8756553 rs201288213 |
165 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8756552 rs201288213 |
165 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455020298 CA400971314 |
165 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400971398 rs1452774907 |
168 | P>T | No |
ClinGen TOPMed |
|
|
CA293970492 rs8068910 |
170 | K>* | No |
ClinGen Ensembl |
|
|
CA8756558 rs140917471 |
171 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1227780671 | 171 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205443093 CA400972114 |
177 | R>* | No |
ClinGen gnomAD |
|
|
CA400972131 rs1171568301 |
178 | I>T | No |
ClinGen TOPMed |
|
|
rs1263692482 CA400972127 |
178 | I>V | No |
ClinGen gnomAD |
|
|
rs751797695 CA8756560 |
179 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8756562 rs759952365 |
179 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8756561 rs759952365 |
179 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1481587004 CA400972234 |
182 | N>K | No |
ClinGen gnomAD |
|
|
CA8756580 rs775853675 |
183 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA293970627 rs181264326 |
184 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8756583 rs528370211 |
185 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8756584 rs528370211 |
185 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM984248 CA8756582 rs764514778 |
185 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453883413 CA400972279 |
186 | E>K | No |
ClinGen gnomAD |
|
|
CA8756585 rs764786457 |
187 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8756586 rs375187085 |
187 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA293970635 rs35821818 |
188 | L>V | No |
ClinGen Ensembl |
|
|
CA400972351 rs1406451235 COSM3421898 |
189 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1385759123 CA400972419 |
191 | K>N | No |
ClinGen TOPMed |
|
|
CA400972426 rs1171210665 |
192 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8756589 rs746802123 |
192 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754795020 CA8756590 |
193 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781046033 CA8756592 |
194 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8756591 rs781046033 |
194 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8756593 rs770955106 |
195 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs921482215 CA293970647 |
196 | A>V | No |
ClinGen TOPMed |
|
|
rs1289771741 CA400972511 |
197 | V>L | No |
ClinGen gnomAD |
|
|
CA293970649 rs932787730 |
201 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1244820897 CA400972597 |
201 | R>W | No |
ClinGen TOPMed |
|
|
rs1179414687 CA400972658 |
203 | V>I | No |
ClinGen gnomAD |
|
|
CA400972678 rs772297258 |
204 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772297258 CA8756596 |
204 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400972719 rs1163443422 |
205 | M>T | No |
ClinGen gnomAD |
No associated diseases with Q14197
1 regional properties for Q14197
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptide chain release factor class I | 69 - 201 | IPR000352 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.29 | Carboxylic ester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial large ribosomal subunit | The larger of the two subunits of a mitochondrial ribosome. Two sites on the ribosomal large subunit are involved in translation: the aminoacyl site (A site) and peptidyl site (P site). |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminoacyl-tRNA hydrolase activity | Catalysis of the reaction: N-substituted aminoacyl-tRNA + H2O = N-substituted amino acid + tRNA. |
| translation release factor activity, codon nonspecific | A translation release factor that is not specific to particular codons; binds to guanine nucleotides. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial translation | The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. |
| mitochondrial translational termination | The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8R035 | Mrpl58 | Peptidyl-tRNA hydrolase ICT1, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATRCLRWG | LSRAGVWLLP | PPARCPRRAL | HKQKDGTEFK | SIYSLDKLYP | ESQGSDTAWR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VPNGAKQADS | DIPLDRLTIS | YCRSSGPGGQ | NVNKVNSKAE | VRFHLATAEW | IAEPVRQKIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ITHKNKINRL | GELILTSESS | RYQFRNLADC | LQKIRDMITE | ASQTPKEPTK | EDVKLHRIRI |
| 190 | 200 | ||||
| ENMNRERLRQ | KRIHSAVKTS | RRVDMD |