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

3 structures for Q9Y512

Entry ID Method Resolution Chain Position Source
6YOO X-ray 106 A B 24-35 PDB
6YOP X-ray 110 A A 24-39 PDB
AF-Q9Y512-F1 Predicted AlphaFoldDB

392 variants for Q9Y512

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1328163131
CA411849556
2 G>R No ClinGen
gnomAD
rs764674823
CA10278325
2 G>V No ClinGen
ExAC
gnomAD
CA411849575
rs1436049671
CA411849574
4 V>L No ClinGen
gnomAD
rs1250409708
CA411849582
5 H>Y No ClinGen
TOPMed
CA10278328
rs369254324
7 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278326
rs754290245
7 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1472538054
CA411849737
9 L>S No ClinGen
TOPMed
gnomAD
TCGA novel 13 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453670318
CA411849786
14 S>P No ClinGen
gnomAD
rs1410525145
CA411849796
15 S>G No ClinGen
gnomAD
rs773573489
CA10278347
16 G>E No ClinGen
ExAC
gnomAD
CA10278346
rs369884307
16 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1363020741
CA411849819
17 P>R No ClinGen
gnomAD
CA411849823
rs983788832
18 D>H No ClinGen
TOPMed
gnomAD
CA324874610
rs983788832
18 D>N No ClinGen
TOPMed
gnomAD
rs763173401
CA10278348
20 G>V No ClinGen
ExAC
gnomAD
rs767225703
CA10278350
23 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10278351
rs200348301
24 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1285710009
CA411849969
31 V>A No ClinGen
gnomAD
rs1382078501
CA411849998
34 E>K No ClinGen
TOPMed
rs1388793366
CA411850011
35 A>T No ClinGen
gnomAD
rs1302027319
CA411850069
39 I>S No ClinGen
gnomAD
rs753886150
CA10278354
39 I>V No ClinGen
ExAC
gnomAD
CA411850078
rs757253689
40 L>F No ClinGen
ExAC
gnomAD
rs757253689
CA10278355
40 L>I No ClinGen
ExAC
gnomAD
CA10278356
rs778925941
43 K>E No ClinGen
ExAC
gnomAD
CA411850150
rs1383335878
44 D>G No ClinGen
TOPMed
rs1438017702
CA411850140
44 D>N No ClinGen
gnomAD
CA411850269
rs1372638302
45 V>L No ClinGen
gnomAD
rs143095808
CA10278369
RCV000886890
46 V>I No ClinGen
ClinVar
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
TCGA novel 47 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278372
rs775258924
48 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1305896517
CA411850350
50 V>A No ClinGen
TOPMed
TCGA novel 51 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 53 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955488570
CA324874858
53 D>G No ClinGen
TOPMed
gnomAD
rs1028359521
CA324874856
53 D>H No ClinGen
TOPMed
TCGA novel 56 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603418713
CA411850459
56 G>V No ClinGen
Ensembl
rs760232267
CA10278373
57 R>G No ClinGen
ExAC
gnomAD
CA411850519
rs1359011868
60 D>N No ClinGen
TOPMed
CA10278375
rs373727761
61 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA10278374
rs763765385
61 D>N No ClinGen
ExAC
gnomAD
rs986851673
CA324874864
62 I>V No ClinGen
gnomAD
CA10278376
rs756767733
63 I>V No ClinGen
ExAC
gnomAD
rs1469949998
CA411850630
64 I>V No ClinGen
TOPMed
gnomAD
CA411850648
rs1379578956
65 C>R No ClinGen
TOPMed
CA411850653
rs1569025348
65 C>Y No ClinGen
Ensembl
rs750288005
CA10278378
67 I>M No ClinGen
ExAC
gnomAD
rs146079721
CA10278377
67 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1297594785
CA411850706
67 I>V No ClinGen
TOPMed
rs758249862
CA10278379
68 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA411850741
rs1176245235
69 D>H No ClinGen
gnomAD
rs779688779
CA10278380
72 K>R No ClinGen
ExAC
gnomAD
rs1603418718
CA411850832
73 A>T No ClinGen
Ensembl
TCGA novel 75 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278382
rs200129176
76 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs569129809
CA10278383
77 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA411851475
rs1211488493
79 V>G No ClinGen
gnomAD
rs776459713
CA10278411
79 V>I No ClinGen
ExAC
gnomAD
rs367937404
CA10278413
80 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761534315
CA10278412
80 M>T No ClinGen
ExAC
gnomAD
CA324875978
rs1034386294
81 R>Q No ClinGen
TOPMed
CA10278414
rs372186642
81 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411851512
rs1250637552
83 S>C No ClinGen
TOPMed
gnomAD
rs762456444
CA10278415
84 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA411851515
rs1420458227
84 H>N No ClinGen
gnomAD
rs762456444
CA411851520
84 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs751476015
CA10278417
85 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs766251685
CA10278416
85 E>K No ClinGen
ExAC
gnomAD
rs140032620
CA10278418
87 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278419
rs143559079
87 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143559079
CA324875986
87 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411851594
rs1302289440
91 L>H No ClinGen
gnomAD
CA10278421
rs376401349
92 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147060461
CA10278422
92 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411851602
rs147060461
92 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1377419148
CA411851611
93 L>H No ClinGen
TOPMed
rs1234666822
CA411851673
99 V>M No ClinGen
gnomAD
CA411851691
rs1282216096
100 D>G No ClinGen
gnomAD
TCGA novel 100 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 100 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278424
rs757310529
101 V>A No ClinGen
ExAC
gnomAD
CA10278425
rs779315929
103 I>T No ClinGen
ExAC
gnomAD
CA411851747
rs1324761192
105 T>A No ClinGen
TOPMed
CA411851760
rs1481355154
106 C>Y No ClinGen
gnomAD
CA10278427
rs534986762
107 Q>E No ClinGen
ExAC
gnomAD
rs1392190288
CA411851775
107 Q>L No ClinGen
TOPMed
rs1392190288
CA411851774
107 Q>R No ClinGen
TOPMed
rs1452509887
CA753456971
108 G>K No ClinGen
TOPMed
rs375589070
CA10278448
109 D>H No ClinGen
ESP
ExAC
gnomAD
CA10278449
VAR_057338
rs3761472
110 D>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA411852017
rs3761472
110 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770409380
CA411852024
111 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs770409380
CA10278451
111 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201341859
CA10278453
114 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10278455
rs142640319
117 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411852081
rs1229777468
117 D>N No ClinGen
gnomAD
rs1010940178
CA324876734
117 D>V No ClinGen
Ensembl
TCGA novel 118 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs556789427
CA10278456
118 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA411852107
rs1569028578
119 T>I No ClinGen
Ensembl
rs1216453827
CA411852125
120 F>L No ClinGen
gnomAD
rs1342357280
CA411852129
121 E>Q No ClinGen
TOPMed
rs377476119
CA324876742
122 V>I No ClinGen
ESP
CA411852150
rs1409295052
123 T>I No ClinGen
TOPMed
rs762081056
CA10278459
124 E>G No ClinGen
ExAC
gnomAD
CA411852186
rs1192172744
126 R>K No ClinGen
gnomAD
CA324876749
rs765299671
127 R>G No ClinGen
ExAC
gnomAD
CA10278462
rs150984629
129 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1405004983
CA411852268
130 G>V No ClinGen
gnomAD
CA10278464
rs371184429
132 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411852314
rs371184429
132 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278466
rs781608078
134 T>N No ClinGen
ExAC
gnomAD
rs142127145
CA10278467
135 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1281936825
CA411852397
138 N>K No ClinGen
gnomAD
CA10278469
rs199632516
139 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411852461
rs1569028625
143 M>T No ClinGen
Ensembl
CA411852452
rs1224020203
143 M>V No ClinGen
gnomAD
rs1450184225
CA411852532
144 V>L No ClinGen
gnomAD
CA411852543
rs1441969759
145 L>F No ClinGen
TOPMed
gnomAD
CA10278497
rs756388142
145 L>R No ClinGen
ExAC
gnomAD
rs1240334920
CA411852550
146 G>S No ClinGen
gnomAD
CA10278498
rs778564857
147 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1177721675
CA411852597
150 P>L No ClinGen
TOPMed
gnomAD
rs750044700
CA10278499
151 N>S No ClinGen
ExAC
TOPMed
CA411852632
rs1344069154
154 G>R No ClinGen
TOPMed
rs760694382
CA324876928
155 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs372431320
CA10278500
155 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411852691
rs1603419125
159 V>G No ClinGen
Ensembl
rs376336708
CA10278501
160 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411852743
rs1170799043
164 S>Y No ClinGen
gnomAD
CA10278503
rs768642813
165 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA411852750
rs768642813
165 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs746985408
CA10278502
165 Y>H No ClinGen
ExAC
gnomAD
CA324876940
rs201147696
167 T>I No ClinGen
Ensembl
TCGA novel 169 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411852805
rs1332796193
170 T>I No ClinGen
gnomAD
CA10278504
rs147789611
171 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411852833
rs747996230
173 G>D No ClinGen
ExAC
gnomAD
CA10278505
rs747996230
173 G>V No ClinGen
ExAC
gnomAD
rs1279631581
CA411852840
174 L>Q No ClinGen
gnomAD
rs1380492770
CA411852862
176 F>S No ClinGen
TOPMed
rs773618986
CA10278507
177 F>L No ClinGen
ExAC
gnomAD
CA10278508
rs763255508
179 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA324876941
rs763255508
179 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs774496859
CA10278510
180 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM304550
CA10278509
rs771203161
180 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs535356871
CA10278511
181 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535356871
CA10278512
181 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10278514
rs183923403
182 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764417280
CA10278516
184 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA10278517
rs578136170
185 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411852995
rs1211528069
187 N>S No ClinGen
gnomAD
rs757207629
CA10278543
190 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs757207629
CA10278542
190 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10278544
rs777798922
191 N>D No ClinGen
ExAC
gnomAD
rs1313546780
CA411853414
191 N>T No ClinGen
TOPMed
gnomAD
rs1354211426
CA411853450
193 Y>* No ClinGen
gnomAD
CA10278547
rs180928342
193 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374982740
CA10278548
194 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772249410
CA10278549
196 T>I No ClinGen
ExAC
gnomAD
rs747021327
CA10278551
198 Q>E No ClinGen
ExAC
CA10278552
rs769163632
200 P>S No ClinGen
ExAC
gnomAD
rs777074079
CA411853582
202 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA10278554
rs550259267
203 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs113373406
CA10278558
205 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113373406
CA10278557
205 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278556
rs113373406
205 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278555
rs150292452
205 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10278560
rs200502238
207 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA411853659
rs1453700073
208 D>N No ClinGen
gnomAD
rs1394488573
CA411853688
210 G>A No ClinGen
gnomAD
rs1284103045
CA411853696
211 M>L No ClinGen
TOPMed
gnomAD
rs1314699831
CA411853726
213 A>T No ClinGen
gnomAD
rs773639710
CA324877062
214 E>D No ClinGen
Ensembl
rs577506632
CA10278587
219 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10278586
rs193152135
219 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs751747955
CA10278588
220 W>G No ClinGen
ExAC
TOPMed
gnomAD
rs751747955
CA324877631
220 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs755098914
CA324877634
222 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10278589
rs755098914
222 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1351261822
CA411854203
223 S>G No ClinGen
TOPMed
gnomAD
CA411854238
rs1201644170
225 T>S No ClinGen
TOPMed
rs748162093
CA324877638
226 V>F No ClinGen
ExAC
gnomAD
CA10278591
rs748162093
226 V>I No ClinGen
ExAC
gnomAD
CA411854262
rs1569030183
227 K>N No ClinGen
Ensembl
rs35189432
CA10278592
227 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278594
rs749649786
230 G>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 230 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278596
rs775334315
231 V>I No ClinGen
ExAC
TOPMed
gnomAD
COSM1566424
rs143794573
CA10278598
233 R>* Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143794573
CA411854308
233 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1603419409
CA411854318
234 E>D No ClinGen
Ensembl
rs752221535
CA324877648
235 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA10278600
rs761326583
235 L>Q No ClinGen
ExAC
gnomAD
rs761326583
CA411854321
235 L>R No ClinGen
ExAC
gnomAD
CA10278599
rs752221535
235 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs916128511
CA324877651
238 L>F No ClinGen
gnomAD
rs916128511
CA411854336
238 L>V No ClinGen
gnomAD
rs765107676
CA10278601
239 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs202225451
CA10278603
241 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751847892
CA10278605
242 A>T No ClinGen
ExAC
gnomAD
CA10278606
rs755197408
242 A>V No ClinGen
ExAC
gnomAD
CA411854377
rs1603419413
245 A>P No ClinGen
Ensembl
CA10278609
rs756181628
247 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA10278611
rs749785044
247 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10278612
rs757758267
248 K>E No ClinGen
ExAC
rs1292436268
CA411854409
250 S>N No ClinGen
gnomAD
TCGA novel 250 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324877665
rs971622317
251 G>E No ClinGen
Ensembl
CA10278614
rs746163894
251 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1466982317
CA411854424
252 H>P No ClinGen
TOPMed
rs1172693562
CA411854421
252 H>Y No ClinGen
TOPMed
CA10278615
rs371015652
253 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324877671
rs908556538
258 L>F No ClinGen
Ensembl
rs769314961
CA10278618
259 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs769314961
CA10278619
259 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1381976473
CA411854528
261 A>V No ClinGen
gnomAD
rs138855728
CA10278636
262 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324877800
rs111832403
264 I>V No ClinGen
Ensembl
rs748738734
CA10278639
265 D>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 265 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278638
rs772784326
265 D>N No ClinGen
ExAC
gnomAD
rs1331637489
CA411854578
266 S>C No ClinGen
gnomAD
CA10278641
rs78038328
267 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770878935
CA10278640
267 R>W No ClinGen
ExAC
gnomAD
TCGA novel 269 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411854620
rs1310410925
271 I>V No ClinGen
gnomAD
CA10278642
rs759370039
278 L>* No ClinGen
ExAC
gnomAD
rs767280050
CA411854699
279 L>V No ClinGen
ExAC
gnomAD
CA10278644
rs775636410
282 N>S No ClinGen
ExAC
gnomAD
CA411854739
rs1220963357
283 Q>* No ClinGen
gnomAD
CA411854742
rs1456990760
283 Q>R No ClinGen
Ensembl
CA411854935
rs778873552
284 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA411854932
rs778873552
284 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10278658
rs778873552
284 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1461193272
CA411854944
285 L>M No ClinGen
gnomAD
CA10278659
rs745794022
286 A>V No ClinGen
ExAC
gnomAD
CA10278661
rs200554343
289 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA10278664
rs768942973
291 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs79109650
CA10278665
292 D>G No ClinGen
ExAC
gnomAD
CA10278666
rs762022694
294 S>G No ClinGen
ExAC
CA411855045
rs1227018135
294 S>N No ClinGen
gnomAD
rs1265787207
CA411855069
296 I>L No ClinGen
TOPMed
gnomAD
rs1265787207
CA411855070
296 I>V No ClinGen
TOPMed
gnomAD
rs1321116921
CA411855090
297 K>N No ClinGen
TOPMed
TCGA novel 298 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358274022
CA411855092
298 E>Q No ClinGen
gnomAD
CA411855113
rs1220151356
299 D>G No ClinGen
gnomAD
CA10278668
rs372628743
304 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1195154078
CA411855201
306 K>R No ClinGen
gnomAD
rs751975574
CA10278671
307 Q>* No ClinGen
ExAC
gnomAD
rs755260870
CA10278672
307 Q>H No ClinGen
ExAC
gnomAD
CA411855228
rs1427025149
309 I>T No ClinGen
gnomAD
rs982873024
CA324877958
310 F>C No ClinGen
TOPMed
gnomAD
rs777522514
CA10278673
312 S>L No ClinGen
ExAC
gnomAD
CA411855339
rs1204950889
314 F>V No ClinGen
TOPMed
CA324878699
rs936071282
316 A>V No ClinGen
TOPMed
gnomAD
CA324878703
rs780934766
318 F>L No ClinGen
Ensembl
rs372891737
CA324878707
321 G>R No ClinGen
ESP
TOPMed
gnomAD
CA324878709
rs769503551
322 M>T No ClinGen
Ensembl
CA411855406
rs1233273196
324 V>I No ClinGen
TOPMed
gnomAD
CA411855415
rs1257272353
325 P>L No ClinGen
TOPMed
gnomAD
CA411855414
rs1257272353
325 P>R No ClinGen
TOPMed
gnomAD
CA10278694
rs544465311
326 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1242902945
CA411855442
328 D>N No ClinGen
TOPMed
gnomAD
rs575124332
CA10278696
328 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs749953055
CA10278697
329 K>E No ClinGen
ExAC
rs757803599
CA10278698
329 K>R No ClinGen
ExAC
gnomAD
CA10278699
rs375707409
330 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369058216
COSM1731071
CA10278701
332 S>G liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA324878718
rs895844545
333 I>T No ClinGen
TOPMed
CA10278702
rs781129512
334 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA324878722
rs1013404863
335 D>G No ClinGen
TOPMed
rs765791684
CA10278717
337 F>C No ClinGen
ExAC
gnomAD
rs781217777
CA10278720
340 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs747987580
CA10278721
341 G>* No ClinGen
ExAC
gnomAD
CA411855769
rs1317580367
344 S>G No ClinGen
TOPMed
CA411855771
rs1294508060
344 S>N No ClinGen
gnomAD
CA411855777
rs8418
345 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs8418
VAR_013768
CA10278724
345 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10278725
rs771112589
346 R>C No ClinGen
ExAC
gnomAD
rs995506644
CA324879176
346 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs745907041
CA10278727
347 G>R No ClinGen
ExAC
gnomAD
rs772594585
CA10278728
349 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs775931631
CA10278729
349 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA411855811
rs1363586530
350 M>I No ClinGen
gnomAD
CA411855809
rs1165253169
350 M>T No ClinGen
gnomAD
rs959797810
CA324879182
353 I>V No ClinGen
gnomAD
rs761064487
CA10278730
354 G>R No ClinGen
ExAC
gnomAD
rs1428203434
CA411855845
355 P>R No ClinGen
gnomAD
rs749568021
CA10278731
356 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs772973443
CA10278732
357 S>N No ClinGen
ExAC
gnomAD
CA10278733
rs373830089
358 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10278767
rs747023308
359 G>E No ClinGen
ExAC
gnomAD
COSM247175
CA411855916
rs1173734821
363 G>V prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
rs755487664
CA411855936
366 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1301880301
CA411855932
366 A>T No ClinGen
TOPMed
CA10278768
rs755487664
366 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1329939846
CA411855959
369 A>V No ClinGen
gnomAD
rs770172829
CA10278771
370 G>S No ClinGen
ExAC
TOPMed
gnomAD
COSM3740459
CA10278773
rs745513145
371 G>S liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA411855975
rs1262917260
373 H>N No ClinGen
TOPMed
rs1037082670
CA324880275
375 Y>C No ClinGen
Ensembl
CA324880278
rs897242202
376 T>I No ClinGen
Ensembl
rs1181488940
CA411855996
376 T>P No ClinGen
TOPMed
CA10278777
rs200604349
377 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200604349
CA411856002
377 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1252362347
CA411856015
379 P>S No ClinGen
gnomAD
CA10278778
rs776596324
380 F>C No ClinGen
ExAC
gnomAD
CA411856027
rs765065046
381 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10278780
rs765065046
381 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10278779
rs544173089
381 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1481172154
CA411856038
383 G>D No ClinGen
gnomAD
CA411856044
rs1196635235
384 Q>R No ClinGen
gnomAD
rs1235527275
CA411856093
391 F>S No ClinGen
gnomAD
CA411856098
rs1462151767
392 R>* No ClinGen
gnomAD
CA10278782
rs750708573
392 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10278781
rs750708573
392 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA411856101
rs1399023431
393 T>A No ClinGen
gnomAD
CA10278784
rs766529644
394 H>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 394 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278786
rs755045455
395 F>S No ClinGen
ExAC
gnomAD
rs751660124
CA10278785
395 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA10278788
rs574363713
399 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 400 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1281425591
CA411856156
401 N>S No ClinGen
gnomAD
rs1345157019
CA411856175
403 C>Y No ClinGen
gnomAD
CA10278791
rs749603545
406 N>D No ClinGen
ExAC
gnomAD
rs1195010191
CA411856216
406 N>K No ClinGen
gnomAD
rs1017479356
CA324880296
406 N>S No ClinGen
gnomAD
rs1020371092
CA324880298
COSM126011
407 Y>C upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
rs771869848
CA10278792
407 Y>D No ClinGen
ExAC
gnomAD
CA411856361
rs769794460
409 E>* No ClinGen
ExAC
gnomAD
CA10278816
rs769794460
409 E>K No ClinGen
ExAC
gnomAD
CA411856370
rs1368399386
410 G>D No ClinGen
gnomAD
CA411856367
COSM1224639
rs1162154121
410 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA411856372
rs1368399386
410 G>V No ClinGen
gnomAD
CA411856383
rs1454427705
412 K>R No ClinGen
TOPMed
gnomAD
CA411856388
rs1197536938
413 A>T No ClinGen
TOPMed
rs376687615
CA10278818
414 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 414 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376687615
CA10278817
COSM1196524
414 H>Y lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10278819
rs201717661
416 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1434597186
CA411856418
416 R>H No ClinGen
gnomAD
CA10278821
rs759807839
418 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA411856443
rs1314378187
419 A>T No ClinGen
gnomAD
CA411856451
rs1317430174
420 E>K No ClinGen
gnomAD
CA920378907
rs1569036298
421 C>* No ClinGen
Ensembl
CA10278823
rs752841571
421 C>G No ClinGen
ExAC
gnomAD
rs1349539399
CA411856467
421 C>Y No ClinGen
gnomAD
CA10278824
COSM131296
rs139551220
423 R>C liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1244139143
CA411856488
423 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10278827
rs757758374
424 W>C No ClinGen
ExAC
gnomAD
rs201556963
CA10278826
424 W>G No ClinGen
ExAC
gnomAD
CA324880586
rs201556963
424 W>R No ClinGen
ExAC
gnomAD
rs150932882
CA10278829
426 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1460012287 428 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411856535
rs1456928361
428 A>T No ClinGen
gnomAD
rs747726024
CA10278832
429 G>R No ClinGen
ExAC
gnomAD
rs769263451
CA10278833
431 V>F No ClinGen
ExAC
gnomAD
CA10278834
rs777745951
432 L>I No ClinGen
ExAC
gnomAD
CA411856603
rs1163863724
435 G>D No ClinGen
TOPMed
rs1374017249
CA411856614
436 N>S No ClinGen
gnomAD
CA324880602
rs1057257905
438 A>T No ClinGen
TOPMed
gnomAD
rs770786826
CA411856641
439 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs774207483
CA411856645
439 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs774207483
CA10278837
439 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10278836
rs770786826
439 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10278839
rs772367701
443 N>S No ClinGen
ExAC
COSM3062540
rs760853554
CA10278841
446 V>I kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs564746456
CA10278842
448 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs754465662
CA10278843
453 G>S No ClinGen
ExAC
gnomAD
CA411856831
rs1248515000
454 D>E No ClinGen
gnomAD
CA411843003
rs1289155925
455 R>S No ClinGen
gnomAD
rs543581425
CA324876889
456 I>V No ClinGen
1000Genomes
rs1020031347
CA324876891
457 C>R No ClinGen
TOPMed
gnomAD
rs1020031347
CA411843010
457 C>S No ClinGen
TOPMed
gnomAD
rs1216739066
CA411843013
457 C>Y No ClinGen
gnomAD
CA324876892
rs146627813
459 G>D No ClinGen
ESP
gnomAD
TCGA novel 460 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10278872
rs755775256
462 F>C No ClinGen
ExAC
rs763685097
CA411843060
464 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs763685097
CA10278873
464 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10278874
rs753374189
465 G>V No ClinGen
ExAC
gnomAD
rs756726611
CA10278875
466 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs930159075
CA324876906
466 I>M No ClinGen
Ensembl
rs778954287
CA411843072
467 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs778954287
CA10278876
467 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1240523666
CA411843080
468 F>V No ClinGen
gnomAD
rs758284648
CA10278878
470 L>Y No ClinGen
ExAC
gnomAD

No associated diseases with Q9Y512

No regional properties for Q9Y512

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y512

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion outer membrane ; Multi-pass membrane protein
  • Cytoplasm
  • Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
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.
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.
MIB complex A mitochondrial intermembrane space bridging complex consisting of components of the MICOS complex in the inner mitochondrial membrane, the SAM complex in the outer membrane, a conserved DNAJ protein (human DNAJC11) and Metaxin 1.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of 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.
SAM complex A large complex of the mitochondrial outer membrane that mediates sorting of some imported proteins to the outer membrane and their assembly in the membrane; functions after import of incoming proteins by the mitochondrial outer membrane translocase complex.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name Definition
cristae formation The assembly of cristae, the inwards folds of the inner mitochondrial membrane.
inner mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane.
mitochondrial respiratory chain complex assembly The aggregation, arrangement and bonding together of a set of components to form a mitochondrial respiratory chain complex.
protein insertion into mitochondrial outer membrane The process comprising the insertion of proteins from outside the organelle into the mitochondrial outer membrane, mediated by large outer membrane translocase complexes.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2HJ55 SAMM50 Sorting and assembly machinery component 50 homolog Bos taurus (Bovine) PR
Q9V784 CG7639 SAM50-like protein CG7639 Drosophila melanogaster (Fruit fly) PR
Q8BGH2 Samm50 Sorting and assembly machinery component 50 homolog Mus musculus (Mouse) PR
Q6AXV4 Samm50 Sorting and assembly machinery component 50 homolog Rattus norvegicus (Rat) PR
Q6P806 samm50 Sorting and assembly machinery component 50 homolog Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q5U3I0 samm50b Sorting and assembly machinery component 50 homolog B Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q803G5 samm50a Sorting and assembly machinery component 50 homolog A Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV HFDGLGRTKD
70 80 90 100 110 120
DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD VLIDTCQGDD ALPNGLDVTF
130 140 150 160 170 180
EVTELRRLTG SYNTMVGNNE GSMVLGLKLP NLLGRAEKVT FQFSYGTKET SYGLSFFKPR
190 200 210 220 230 240
PGNFERNFSV NLYKVTGQFP WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR
250 260 270 280 290 300
TASFAVRKES GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF
310 320 330 340 350 360
ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM HSIGPQSEGD
370 380 390 400 410 420
YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG NLCNLNYGEG PKAHIRKLAE
430 440 450 460
CIRWSYGAGI VLRLGNIARL ELNYCVPMGV QTGDRICDGV QFGAGIRFL