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 Q86VD7

Entry ID Method Resolution Chain Position Source
AF-Q86VD7-F1 Predicted AlphaFoldDB

224 variants for Q86VD7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs864321624
RCV000412490
VAR_082152
RCV000203566
CA279953
RCV000984915
291 N>D SLC25A42-related mitochondrial disorder Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression Inborn mitochondrial myopathy MECREN; loss-of-function variant unable to rescue motor deficiencies in zebrafish morphants [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA9321312
rs377407327
3 N>S No ClinGen
ESP
ExAC
gnomAD
CA404886646
rs1289006703
7 E>D No ClinGen
gnomAD
rs1449812385
CA404886652
8 G>C No ClinGen
gnomAD
rs1223416165
CA404886669
8 G>D No ClinGen
gnomAD
rs1449812385
CA404886656
8 G>S No ClinGen
gnomAD
rs117940121
CA9321313
9 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404886710
rs117940121
9 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773838795
CA9321315
10 V>L No ClinGen
ExAC
gnomAD
CA306285630
rs996227499
11 R>* No ClinGen
TOPMed
gnomAD
CA9321316
rs761258835
11 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9321317
rs767022538
13 H>P No ClinGen
ExAC
gnomAD
CA9321318
rs571380861
15 D>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs756604951
CA9321320
15 D>E No ClinGen
ExAC
gnomAD
CA9321322
rs755219312
17 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1344961227
CA404886879
18 A>S No ClinGen
gnomAD
rs748394350
CA9321324
22 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9321328
rs745768284
24 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA9321327
rs745768284
24 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA306285656
rs12983184
26 S>* No ClinGen
Ensembl
CA9321330
rs749095738
27 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771749461
CA9321361
28 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs771749461
CA404888798
28 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs112742931
CA9321362
28 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306287442
rs1052694166
34 L>P No ClinGen
TOPMed
CA9321364
rs770485122
35 S>G No ClinGen
ExAC
gnomAD
rs1022873578
CA306287452
36 S>F No ClinGen
gnomAD
rs765645817
CA9321368
37 L>P No ClinGen
ExAC
gnomAD
rs138517933
CA9321367
37 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17854359
CA306287463
VAR_032970
39 S>P No ClinGen
UniProt
Ensembl
dbSNP
CA306287466
rs369633428
40 G>A No ClinGen
ESP
TOPMed
CA404888966
rs1568521782
41 A>V No ClinGen
Ensembl
rs1253839907
CA404888973
42 L>P No ClinGen
gnomAD
CA404888983
rs1346706156
43 A>G No ClinGen
gnomAD
rs535457015
CA306287468
49 T>I No ClinGen
Ensembl
CA9321370
rs763264125
50 A>V No ClinGen
ExAC
gnomAD
TCGA novel 53 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 59 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404889312
rs1184944921
60 I>V No ClinGen
gnomAD
CA306288296
rs947589044
65 S>A No ClinGen
TOPMed
gnomAD
CA9321416
rs758381313
75 R>Q No ClinGen
ExAC
rs1599689695
CA404891562
78 Y>S No ClinGen
Ensembl
CA9321418
rs372578398
79 Y>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 80 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599689702
CA404891689
80 T>P No ClinGen
Ensembl
CA306288470
rs752702761
CA306288472
83 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA9321421
rs745521216
88 S>T No ClinGen
ExAC
rs1276311844
CA404892347
97 M>I No ClinGen
gnomAD
rs1409744970
CA404892337
97 M>V No ClinGen
gnomAD
rs138036287
CA9321427
100 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000735224
rs1568523935
CA404892453
103 Y>* No ClinGen
ClinVar
Ensembl
dbSNP
CA9321428
rs772332647
104 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA404892456
rs1218472304
104 A>T No ClinGen
gnomAD
CA9321429
rs531748523
105 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA306288486
rs960278892
106 I>V No ClinGen
TOPMed
gnomAD
rs760915278
CA404892533
107 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA306288493
rs916048583
110 A>T No ClinGen
TOPMed
rs776738600
CA9321432
110 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9321434
rs764158605
112 E>D No ClinGen
ExAC
gnomAD
rs762767863
CA9321433
112 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9321435
rs751466309
113 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs751466309
CA404892682
113 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs751466309
CA9321436
113 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1423955807
CA404892710
114 Y>H No ClinGen
gnomAD
rs767453952
CA9321437
115 K>R No ClinGen
ExAC
gnomAD
CA9321439
rs755883383
116 R>C No ClinGen
ExAC
gnomAD
CA404892772
rs1428594464
116 R>H No ClinGen
gnomAD
CA404892774
rs1428594464
116 R>L No ClinGen
gnomAD
CA404892765
rs755883383
116 R>S No ClinGen
ExAC
gnomAD
rs779681889
CA9321440
117 I>V No ClinGen
ExAC
gnomAD
CA9321442
rs141712568
119 G>A No ClinGen
ESP
ExAC
gnomAD
CA9321443
rs141712568
119 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs772439531
CA9321445
120 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA9321444
rs748604140
120 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs778129613
CA9321446
122 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1226313827
CA404893001
124 F>V No ClinGen
gnomAD
CA9321448
rs771181259
125 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA404893055
rs766495888
126 G>E No ClinGen
gnomAD
CA306288537
rs766495888
126 G>V No ClinGen
gnomAD
rs1447440705
CA404893210
128 A>S No ClinGen
gnomAD
rs199634097
CA9321472
131 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs950963322
CA306288861
131 P>L No ClinGen
TOPMed
rs10421670
CA306288863
132 W>R No ClinGen
Ensembl
rs772204985
CA9321474
133 P>L No ClinGen
ExAC
gnomAD
CA9321473
rs748090374
133 P>S No ClinGen
ExAC
gnomAD
TCGA novel 134 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404893414
rs1236169194
138 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776302265
CA9321478
139 A>S No ClinGen
ExAC
gnomAD
CA9321479
rs776302265
139 A>T No ClinGen
ExAC
gnomAD
rs1599690689
CA404893483
140 L>R No ClinGen
Ensembl
CA404893494
rs1599690694
141 A>V No ClinGen
Ensembl
rs758900040
CA404893526
143 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs758900040
CA9321483
143 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs764642274
CA9321484
144 T>P No ClinGen
ExAC
gnomAD
rs752073615
CA9321485
146 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9321486
rs757578000
148 L>V No ClinGen
ExAC
gnomAD
rs1293888469
CA404893706
151 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781433451
CA9321487
151 P>S No ClinGen
ExAC
gnomAD
TCGA novel 153 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173741072
CA404893841
157 A>S No ClinGen
TOPMed
CA404893884
rs1275885523
160 A>T No ClinGen
gnomAD
CA9321493
rs773221554
161 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9321494
rs746971555
163 P>L No ClinGen
ExAC
gnomAD
CA9321520
rs773892280
167 Y>D No ClinGen
ExAC
gnomAD
CA9321522
rs767968883
169 N>S No ClinGen
ExAC
gnomAD
CA404895098
rs1208457977
170 I>M No ClinGen
gnomAD
CA9321523
rs372172962
171 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149585119
CA9321524
COSM4140426
176 R>C ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9321525
rs766802370
176 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA404895280
COSM1391779
rs1323880492
178 S>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA404895282
rs1323880492
178 S>W No ClinGen
TOPMed
CA9321528
rs779102013
179 R>G No ClinGen
ExAC
gnomAD
rs980923440
CA306289606
180 E>A No ClinGen
Ensembl
CA9321529
rs373877778
180 E>K No ClinGen
ESP
ExAC
gnomAD
rs1341318042
CA404895349
182 G>R No ClinGen
TOPMed
TCGA novel 183 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9321532
rs745821632
184 K>N No ClinGen
ExAC
gnomAD
CA404895529
rs1383451180
189 G>R No ClinGen
gnomAD
rs1296866032
CA404895593
191 M>L No ClinGen
gnomAD
CA9321535
rs779873546
191 M>T No ClinGen
ExAC
gnomAD
rs144256360
CA404895633
192 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9321536
rs144256360
192 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404895684
rs773840865
194 V>L No ClinGen
ExAC
gnomAD
rs773840865
CA9321538
194 V>M No ClinGen
ExAC
gnomAD
rs761173709
CA9321539
198 I>L No ClinGen
ExAC
gnomAD
rs140711318
CA9321540
199 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372199103
CA306289648
199 P>L No ClinGen
ESP
TOPMed
gnomAD
rs925587101
CA306289655
201 A>G No ClinGen
TOPMed
rs531577760
CA306289652
201 A>T No ClinGen
TOPMed
TCGA novel 202 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 205 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs946741937
CA306289657
207 T>I No ClinGen
Ensembl
rs1599692607
CA404896011
208 Y>S No ClinGen
Ensembl
CA306289668
rs866770230
209 E>* No ClinGen
Ensembl
CA9321544
rs546562344
210 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765611053
CA9321546
211 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 211 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs921374052
CA306289701
215 H>R No ClinGen
TOPMed
rs45546936
CA9321547
216 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1568527029
CA404897337
218 Y>F No ClinGen
Ensembl
rs1055727120
CA306290683
219 S>G No ClinGen
TOPMed
gnomAD
CA404897360
rs1376066628
219 S>R No ClinGen
gnomAD
rs771630381
CA9321560
221 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA404897398
rs1239069686
222 R>P No ClinGen
Ensembl
rs777120256
CA9321561
222 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1236616644
CA404897444
225 Y>C No ClinGen
gnomAD
CA404897461
rs759920889
226 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759920889
CA9321562
226 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA404897457
rs1282312225
226 P>S No ClinGen
gnomAD
rs1230952932
CA404897484
227 F>L No ClinGen
TOPMed
gnomAD
rs895873119
CA306290698
228 E>K No ClinGen
TOPMed
gnomAD
CA404897488
rs895873119
228 E>Q No ClinGen
TOPMed
gnomAD
rs1249360443
CA404897516
229 R>L No ClinGen
TOPMed
gnomAD
CA404897513
rs1249360443
229 R>P No ClinGen
TOPMed
gnomAD
CA404897502
rs1177389428
229 R>S No ClinGen
gnomAD
rs1266266431
CA404897546
231 I>T No ClinGen
gnomAD
CA306290707
rs1042233979
235 C>F No ClinGen
Ensembl
rs950156951
CA306290702
235 C>G No ClinGen
TOPMed
gnomAD
rs1174987439
CA404897616
235 C>W No ClinGen
gnomAD
CA404897619
rs1162718866
236 A>T No ClinGen
TOPMed
rs1442899779
CA404897747
237 G>S No ClinGen
TOPMed
CA404897779
rs1179520685
238 L>F No ClinGen
TOPMed
CA404897810
rs775814532
239 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA404897801
rs1169384229
239 I>V No ClinGen
gnomAD
rs1356610610
CA404897828
240 G>V No ClinGen
gnomAD
rs1224324207
CA404897830
241 Q>E No ClinGen
TOPMed
CA9321565
rs763284891
242 S>L No ClinGen
ExAC
gnomAD
rs751729984
CA9321567
244 S>W No ClinGen
ExAC
gnomAD
CA404897860
rs1467434357
245 Y>H No ClinGen
TOPMed
gnomAD
CA404897871
rs1213894287
246 P>R No ClinGen
TOPMed
gnomAD
CA404897867
rs1341622062
246 P>S No ClinGen
gnomAD
rs1270839683
CA404897883
248 D>V No ClinGen
gnomAD
rs752146829
CA9321568
249 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1375781278
CA404897891
250 V>M No ClinGen
TOPMed
CA404897903
rs1466860714
252 R>W No ClinGen
gnomAD
CA404897960
rs778705985
261 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9321572
rs778705985
261 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA306290761
rs375217405
262 Y>N No ClinGen
TOPMed
rs1322574500
CA404897976
263 P>R No ClinGen
gnomAD
CA9321574
rs533458331
265 A>T No ClinGen
1000Genomes
ExAC
CA404897996
rs1164528950
267 I>V No ClinGen
gnomAD
CA9321576
rs746585668
268 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs746585668
CA404898003
268 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202000540
CA9321577
269 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1018628231
CA306290775
269 R>H No ClinGen
TOPMed
gnomAD
CA404898012
rs1364502145
270 T>A No ClinGen
gnomAD
CA306290780
rs370533233
270 T>K No ClinGen
ESP
TOPMed
gnomAD
CA404898023
rs1406128986
272 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA306290784
rs1020157107
274 I>V No ClinGen
TOPMed
CA404898039
rs1246592621
275 V>M No ClinGen
TOPMed
rs200692918
CA404898048
276 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200692918
CA404898047
276 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200692918
CA9321578
276 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1272312180
CA404898053
277 E>G No ClinGen
gnomAD
CA404898049
rs1214871623
277 E>K No ClinGen
gnomAD
TCGA novel 279 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs560478326
CA9321580
281 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA404898085
rs1213053769
282 R>H No ClinGen
gnomAD
rs1287540218
CA404898082
282 R>S No ClinGen
TOPMed
CA9321582
rs763081314
283 G>A No ClinGen
ExAC
gnomAD
rs1281755886
CA404898093
284 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1187948506
CA404898110
286 K>R No ClinGen
gnomAD
TCGA novel 287 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA306290816
COSM460014
rs764432730
288 L>F cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404898125
rs1220702211
288 L>W No ClinGen
TOPMed
CA9321585
rs761812479
290 M>V No ClinGen
ExAC
gnomAD
rs1388204344
CA404898171
293 V>F No ClinGen
gnomAD
rs1320371846
CA404898182
294 K>E No ClinGen
gnomAD
rs1320371846
CA404898180
294 K>Q No ClinGen
gnomAD
rs1599695310
CA404898198
295 G>V No ClinGen
Ensembl
CA404898225
rs1403029465
298 A>T No ClinGen
TOPMed
TCGA novel 301 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404898271
rs1431371391
302 S>C No ClinGen
gnomAD
rs140099041
CA9321589
304 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1234931232
CA404898365
310 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9321591
rs757977417
311 I>M No ClinGen
ExAC
gnomAD
CA9321590
rs752608316
311 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs17854358
CA306290831
VAR_032971
312 L>M No ClinGen
UniProt
Ensembl
dbSNP
rs529307843
CA9321592
314 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs529307843
CA404898409
314 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 314 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9321593
rs781548124
315 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1415349573
CA404898423
315 H>R No ClinGen
TOPMed
TCGA novel 316 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

1 associated diseases with Q86VD7

[MIM: 618416]: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MECREN)

An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. {ECO:0000269|PubMed:26541337, ECO:0000269|PubMed:29327420, ECO:0000269|PubMed:29923093, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q86VD7

Type Name Position InterPro Accession
conserved_site DNA mismatch repair, conserved site 123 - 129 IPR014762
repeat Mitochondrial substrate/solute carrier 31 - 119 IPR018108-1
repeat Mitochondrial substrate/solute carrier 129 - 216 IPR018108-2
repeat Mitochondrial substrate/solute carrier 224 - 313 IPR018108-3

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion inner membrane ; Multi-pass membrane protein
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.
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.
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.

5 GO annotations of molecular function

Name Definition
ADP phosphatase activity Catalysis of the reaction: ADP + H2O = AMP + phosphate.
ADP transmembrane transporter activity Enables the transfer of ADP, adenosine diphosphate, from one side of a membrane to the other.
AMP transmembrane transporter activity Enables the transfer of AMP, adenosine monophosphate, from one side of a membrane to the other.
ATP transmembrane transporter activity Enables the transfer of ATP, adenosine triphosphate, from one side of a membrane to the other.
coenzyme A transmembrane transporter activity Enables the transfer of coenzyme A from one side of a membrane to the other. Coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, is an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester.

4 GO annotations of biological process

Name Definition
ADP transport The directed movement of ADP, adenosine diphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
AMP transport The directed movement of AMP, adenosine monophosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ATP transport The directed movement of ATP, adenosine triphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
coenzyme A transmembrane transport The process in which coenzyme A is transported across a membrane. Coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, is an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8WUT9 SLC25A43 Solute carrier family 25 member 43 Homo sapiens (Human) PR
Q0P483 slc25a42 Mitochondrial coenzyme A transporter SLC25A42 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGNGVKEGPV RLHEDAEAVL SSSVSSKRDH RQVLSSLLSG ALAGALAKTA VAPLDRTKII
70 80 90 100 110 120
FQVSSKRFSA KEAFRVLYYT YLNEGFLSLW RGNSATMVRV VPYAAIQFSA HEEYKRILGS
130 140 150 160 170 180
YYGFRGEALP PWPRLFAGAL AGTTAASLTY PLDLVRARMA VTPKEMYSNI FHVFIRISRE
190 200 210 220 230 240
EGLKTLYHGF MPTVLGVIPY AGLSFFTYET LKSLHREYSG RRQPYPFERM IFGACAGLIG
250 260 270 280 290 300
QSASYPLDVV RRRMQTAGVT GYPRASIART LRTIVREEGA VRGLYKGLSM NWVKGPIAVG
310
ISFTTFDLMQ ILLRHLQS