O95847
Gene name |
SLC25A27 (UCP4, UNQ772/PRO1566) |
Protein name |
Mitochondrial uncoupling protein 4 |
Names |
UCP 4, Solute carrier family 25 member 27 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9481 |
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
1 structures for O95847
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95847-F1 | Predicted | AlphaFoldDB |
222 variants for O95847
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3838271 rs769122059 |
2 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770393224 CA3838274 |
3 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770393224 CA363911462 |
3 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773680687 CA3838275 |
4 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA3838278 rs773680687 |
4 | P>Q | No |
ClinGen ExAC TOPMed |
|
|
rs773680687 CA363911476 |
4 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA363911473 rs1194696782 |
4 | P>S | No |
ClinGen gnomAD |
|
|
rs1562031397 CA363911481 |
5 | E>Q | No |
ClinGen Ensembl |
|
|
CA3838280 rs759094495 |
7 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA3838281 rs767033940 |
9 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838282 rs752365541 |
10 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA363911561 rs1254072537 |
11 | L>F | No |
ClinGen TOPMed |
|
|
CA363911576 rs1184600444 |
12 | P>L | No |
ClinGen gnomAD |
|
|
rs760367374 CA3838283 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3838287 rs370867753 |
17 | W>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs757125990 CA3838286 |
17 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3838288 rs531521297 |
19 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363911653 rs1226077170 |
20 | A>S | No |
ClinGen TOPMed |
|
|
CA363911703 rs1562031524 |
24 | L>P | No |
ClinGen Ensembl |
|
|
rs1284698675 CA363911719 |
26 | S>F | No |
ClinGen gnomAD |
|
|
rs747204664 CA3838291 |
27 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA363911750 rs1562031584 |
29 | A>T | No |
ClinGen Ensembl |
|
|
CA3838292 rs769069078 |
29 | A>V | No |
ClinGen ExAC |
|
|
rs781682308 CA3838293 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3838294 rs748564213 |
31 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363911807 rs748564213 |
31 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs748564213 CA3838295 |
31 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA363911844 rs1461516644 |
34 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 36 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765052707 CA3838321 |
37 | T>A | No |
ClinGen ExAC |
|
|
rs772948449 COSM1079874 CA3838322 |
46 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA363912787 rs1304344123 |
46 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1304344123 CA363912785 |
46 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766435918 CA3838324 |
50 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs762937474 CA3838323 |
50 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363912901 rs751626969 |
53 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838325 rs751626969 |
53 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838327 rs767795442 |
54 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs200951505 CA363912945 |
57 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374619315 CA3838329 |
57 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363912950 rs374619315 |
57 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3838328 rs200951505 |
57 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137863270 rs766815037 |
58 | L>S | No |
ClinGen Ensembl |
|
|
rs1182235291 CA363912973 |
59 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363912998 rs1162916641 |
61 | G>D | No |
ClinGen gnomAD |
|
|
CA363912993 rs1422665735 |
61 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363912997 rs1162916641 |
61 | G>V | No |
ClinGen gnomAD |
|
|
rs1366130922 CA363913015 |
63 | R>G | No |
ClinGen gnomAD |
|
|
rs757702440 CA3838332 |
63 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1047974095 CA137863279 |
64 | E>G | No |
ClinGen TOPMed |
|
|
CA363913062 rs1395257574 |
66 | A>S | No |
ClinGen gnomAD |
|
|
rs746482027 CA3838334 |
67 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs746482027 CA3838335 |
67 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363913093 rs1308118475 |
68 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs942044441 CA137863315 |
69 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137863319 rs1039063818 |
70 | G>V | No |
ClinGen TOPMed |
|
|
CA363913174 rs1314889719 |
71 | M>R | No |
ClinGen gnomAD |
|
|
rs1582495129 CA363913196 |
72 | V>G | No |
ClinGen Ensembl |
|
|
rs200548509 CA3838338 |
73 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376251804 CA3838339 |
73 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3838340 rs376251804 |
73 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551058229 CA3838341 |
75 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372535065 CA3838344 |
77 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946951680 CA137863359 |
79 | I>T | No |
ClinGen Ensembl |
|
|
rs760935283 CA3838346 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010046655 CA137863373 |
83 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1425507733 CA363913382 |
84 | F>L | No |
ClinGen gnomAD |
|
|
CA363913529 rs1372040262 |
90 | G>E | No |
ClinGen gnomAD |
|
|
CA363913539 rs1021573623 |
91 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA137863379 rs1021573623 |
91 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1403453327 CA363913588 |
92 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1403453327 CA363913585 |
92 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779343845 CA3838350 |
94 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779343845 CA3838351 COSM255356 |
94 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA363913661 rs1207300326 |
96 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1233931896 CA363913695 |
97 | R>S | No |
ClinGen gnomAD |
|
|
rs148753471 CA3838353 |
99 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148753471 CA363913731 |
99 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751992628 CA3838389 |
105 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838390 rs769910678 |
105 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1456023834 CA363914664 |
106 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237046607 CA363914668 |
107 | V>I | No |
ClinGen TOPMed |
|
|
rs1582499152 CA363914708 |
110 | E>D | No |
ClinGen Ensembl |
|
|
CA3838392 rs753453363 |
113 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA363914733 rs1334475004 |
113 | R>Q | No |
ClinGen gnomAD |
|
|
rs1439488999 CA363914743 |
114 | E>G | No |
ClinGen TOPMed |
|
|
rs756910447 CA3838393 |
115 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363914754 rs1276468850 |
115 | V>F | No |
ClinGen TOPMed |
|
|
CA3838395 rs143166898 |
120 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363915131 rs1336945980 |
121 | E>* | No |
ClinGen gnomAD |
|
|
CA3838396 rs758149357 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1258222859 CA363915167 |
124 | H>Y | No |
ClinGen gnomAD |
|
|
rs1458838300 CA363915195 |
126 | P>S | No |
ClinGen gnomAD |
|
|
CA3838414 rs750020901 |
132 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838417 rs746835187 |
135 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363915577 rs1292709126 |
136 | M>T | No |
ClinGen TOPMed |
|
|
CA3838419 rs781141249 |
138 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA137868463 rs964182530 |
139 | V>A | No |
ClinGen gnomAD |
|
|
CA3838423 rs370462167 |
143 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3838422 rs370462167 |
143 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363915693 rs370462167 |
143 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_069101 CA137868520 rs17853162 |
145 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 147 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771239382 CA3838424 |
148 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774517838 CA363915819 |
150 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363915834 rs1349127498 |
151 | V>L | No |
ClinGen gnomAD |
|
|
CA363915868 rs1582503352 |
153 | V>G | No |
ClinGen Ensembl |
|
|
CA363915901 rs1216609199 |
155 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363915939 rs1286805802 |
157 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 158 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137868545 rs539097130 |
159 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs374823328 CA3838427 |
159 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137868566 rs377336270 |
162 | K>E | No |
ClinGen ESP TOPMed |
|
|
rs371275152 CA3838429 |
164 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245647026 CA363916112 |
168 | L>S | No |
ClinGen gnomAD |
|
|
rs867117424 CA137868617 |
169 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201563800 CA3838431 |
169 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332483378 CA363916771 |
170 | F>V | No |
ClinGen gnomAD |
|
|
rs1379731591 COSM1079876 CA363916790 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs979488993 CA137870655 |
171 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769299739 CA3838448 |
173 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1247091774 CA363916847 |
174 | H>Q | No |
ClinGen gnomAD |
|
|
CA3838449 rs201819031 |
174 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762554527 CA3838450 |
175 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA137870696 rs925010869 |
175 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765896195 CA3838452 |
176 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA363916895 rs1199016294 |
176 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765896195 CA3838451 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA137870701 rs374745926 |
177 | F>C | No |
ClinGen ESP |
|
|
CA3838453 rs759223042 |
180 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753660514 CA3838454 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424970754 CA363917101 |
189 | L>F | No |
ClinGen gnomAD |
|
|
rs1312325040 CA363917139 |
192 | G>R | No |
ClinGen TOPMed |
|
|
CA137870723 rs932378479 |
193 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3838456 rs755992198 |
194 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838457 rs777773875 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363917177 rs777773875 |
196 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_050137 CA3838458 rs35884480 |
197 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1402704928 CA363917212 |
199 | R>T | No |
ClinGen TOPMed |
|
|
rs757382672 CA3838459 |
200 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778910615 CA3838460 |
204 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3838473 rs760496531 |
207 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA363917295 rs1163077003 |
207 | D>N | No |
ClinGen TOPMed |
|
|
CA363918057 rs1284667997 |
208 | L>V | No |
ClinGen gnomAD |
|
|
rs552566509 CA363918132 |
211 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201797981 CA137874303 |
211 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1200940333 CA363918216 |
215 | K>T | No |
ClinGen gnomAD |
|
|
CA363918293 rs758626551 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1193026813 CA363918283 |
218 | L>S | No |
ClinGen TOPMed |
|
|
CA363918326 rs1420337839 |
220 | L>F | No |
ClinGen gnomAD |
|
|
CA363918329 rs1554171387 |
221 | N>H | No |
ClinGen Ensembl |
|
|
CA363918364 rs1472227791 |
223 | P>S | No |
ClinGen gnomAD |
|
|
rs887728328 CA137874340 |
226 | D>E | No |
ClinGen TOPMed |
|
|
CA363918493 rs1264252547 |
227 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300136980 CA363918548 |
229 | M>L | No |
ClinGen gnomAD |
|
|
CA3838480 rs369700969 |
230 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293890225 CA363918645 |
232 | G>S | No |
ClinGen gnomAD |
|
|
CA3838482 rs755345912 |
235 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024181965 CA137875611 |
237 | C>S | No |
ClinGen TOPMed |
|
|
rs1472661575 CA363919435 |
244 | I>L | No |
ClinGen TOPMed |
|
|
rs756582016 CA3838512 |
245 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3838513 rs778286962 |
246 | G>E | No |
ClinGen ExAC |
|
|
CA137875627 rs909522823 |
247 | T>I | No |
ClinGen Ensembl |
|
|
CA3838514 rs745336518 |
247 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3838516 rs779582453 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257618943 CA363919471 |
249 | A>V | No |
ClinGen Ensembl |
|
|
rs1332037494 CA363919476 |
250 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1332037494 CA363919474 |
250 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA137875643 rs544957391 |
253 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3838518 rs768252601 |
253 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363919583 rs1318965861 |
257 | M>I | No |
ClinGen gnomAD |
|
|
rs1257805652 CA363919569 |
257 | M>V | No |
ClinGen gnomAD |
|
|
CA363919624 rs1197930126 |
260 | P>L | No |
ClinGen gnomAD |
|
|
CA137875663 rs978490791 |
260 | P>S | No |
ClinGen TOPMed |
|
|
CA3838519 rs776429763 |
261 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761543915 CA3838520 |
261 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1196436598 CA363919707 |
267 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3838530 rs184071945 |
267 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137876618 rs763226129 |
270 | Y>C | No |
ClinGen Ensembl |
|
|
CA3838532 rs373510141 |
273 | S>L | No |
ClinGen ESP TOPMed |
|
|
rs983413284 CA137876670 |
276 | C>R | No |
ClinGen Ensembl |
|
|
CA137876677 rs907882276 |
276 | C>Y | No |
ClinGen gnomAD |
|
|
CA363919770 rs1418516819 |
277 | L>S | No |
ClinGen gnomAD |
|
|
CA137876684 rs867816863 |
280 | A>D | No |
ClinGen Ensembl |
|
|
CA3838537 rs754314561 |
281 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3838538 rs754314561 |
281 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA363919799 rs1582514793 |
282 | Q>E | No |
ClinGen Ensembl |
|
|
CA3838539 rs200844401 |
283 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1037761108 CA137876699 |
286 | F>L | No |
ClinGen TOPMed |
|
|
rs768313753 CA3838541 |
287 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3838540 rs746515242 |
287 | M>V | No |
ClinGen ExAC |
|
|
rs1234428333 CA566914904 |
290 | Y>* | No |
ClinGen gnomAD |
|
|
rs1252416184 CA363919882 |
293 | F>L | No |
ClinGen TOPMed |
|
|
rs1399242074 CA363919876 |
293 | F>L | No |
ClinGen gnomAD |
|
|
rs1433186199 CA363919883 |
294 | L>I | No |
ClinGen Ensembl |
|
|
CA3838543 rs747883074 |
295 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA363919896 rs1239495723 |
296 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs751030565 CA3838561 |
305 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs780793044 CA3838563 |
306 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs754424020 CA3838562 |
306 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1421502781 CA363920898 |
307 | F>C | No |
ClinGen gnomAD |
|
|
CA363920944 rs1377462927 |
308 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747749538 CA3838564 |
310 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747749538 CA363920997 |
310 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755885581 CA3838565 |
317 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309080664 CA363921256 |
318 | S>N | No |
ClinGen TOPMed |
|
|
rs749096343 CA3838567 |
320 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA363921312 rs1562044730 |
320 | V>I | No |
ClinGen Ensembl |
|
|
CA363921391 rs1376202718 |
322 | P>L | No |
ClinGen gnomAD |
|
|
rs1299175117 CA363921371 |
322 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
No associated diseases with O95847
3 regional properties for O95847
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Mitochondrial substrate/solute carrier | 20 - 118 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 125 - 219 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 226 - 317 | IPR018108-3 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| response to cold | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XI74 | PUMP3 | Mitochondrial uncoupling protein 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVPEEEERL | LPLTQRWPRA | SKFLLSGCAA | TVAELATFPL | DLTKTRLQMQ | GEAALARLGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GARESAPYRG | MVRTALGIIE | EEGFLKLWQG | VTPAIYRHVV | YSGGRMVTYE | HLREVVFGKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDEHYPLWKS | VIGGMMAGVI | GQFLANPTDL | VKVQMQMEGK | RKLEGKPLRF | RGVHHAFAKI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LAEGGIRGLW | AGWVPNIQRA | ALVNMGDLTT | YDTVKHYLVL | NTPLEDNIMT | HGLSSLCSGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VASILGTPAD | VIKSRIMNQP | RDKQGRGLLY | KSSTDCLIQA | VQGEGFMSLY | KGFLPSWLRM |
| 310 | 320 | ||||
| TPWSMVFWLT | YEKIREMSGV | SPF |