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

Description
EC Number
Subcellular Localization
  • Mitochondrion inner membrane ; Multi-pass membrane protein
  • Localizes to neuronal cell body and processes
  • Within mitochondrial inner membrane, it is mainly observed in the inner boundary membrane locally separated from F(1)F(0) ATP synthase, which is preferentially localized in cristae
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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