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 P46091

Entry ID Method Resolution Chain Position Source
AF-P46091-F1 Predicted AlphaFoldDB

286 variants for P46091

Variant ID(s) Position Change Description Diseaes Association Provenance
CA2071551
rs773595228
2 E>D No ClinGen
ExAC
gnomAD
rs772384045
CA350149776
6 E>A No ExAC
gnomAD
ClinGen
rs148641154
CA2071549
6 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772384045
CA2071550
6 E>V No ExAC
gnomAD
ClinGen
rs149464246
CA2071548
7 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749401195
CA2071546
9 F>Y No ExAC
gnomAD
ClinGen
rs374619664
CA2071545
11 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs3755227
CA2071544
13 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1432816269
CA350149728
13 E>G No gnomAD
ClinGen
CA64427779
rs755322647
15 Y>C No ClinGen
gnomAD
rs751443641
CA2071540
17 Y>* No ClinGen
ExAC
gnomAD
rs781030355
CA2071541
17 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs764046928
CA350149675
20 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA350149678
rs1187401676
20 D>G No ClinGen
gnomAD
rs1576030719
CA350149646
25 E>Q No Ensembl
ClinGen
rs375035771
CA64427773
26 S>A No Ensembl
ClinGen
CA2071535
rs752177604
30 E>D No ClinGen
ExAC
gnomAD
rs1468991627
CA350149587
33 Q>* No ClinGen
TOPMed
gnomAD
rs764766251
CA2071534
37 V>L No ClinGen
ExAC
TOPMed
CA2071533
rs759221878
38 H>R No ClinGen
ExAC
gnomAD
rs1321277765
CA350149538
40 V>A No gnomAD
ClinGen
CA350149543
rs1474069293
40 V>I No TOPMed
ClinGen
CA350149526
rs1359575548
43 V>M No gnomAD
ClinGen
rs1441496491
CA350149504
46 C>R No gnomAD
ClinGen
CA2071529
rs774874796
46 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749853120
CA2071527
50 V>A No ExAC
TOPMed
gnomAD
ClinGen
CA350149476
rs149251931
50 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149251931
CA2071528
50 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1212324573
CA350149455
53 I>M No TOPMed
gnomAD
ClinGen
CA64427763
rs1031558191
55 G>E No ClinGen
gnomAD
rs1000237242
CA350149434
57 A>S No TOPMed
gnomAD
ClinGen
rs1000237242
CA64427761
57 A>T No ClinGen
TOPMed
gnomAD
rs904518205
CA64427759
57 A>V No ClinGen
TOPMed
gnomAD
rs770060810
CA350149426
58 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs141873416
CA2071526
58 I>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs781277858
COSM1326499
CA2071524
59 V>I Variant assessed as Somatic; 9.24e-05 impact. ovary [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781277858
CA2071523
59 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA350149416
rs1216593796
60 I>M No TOPMed
ClinGen
rs1576030500
CA350149418
60 I>S No Ensembl
ClinGen
rs757034566
CA2071522
60 I>V No ExAC
gnomAD
ClinGen
rs746797584
CA2071521
61 W>* No ClinGen
ExAC
gnomAD
TCGA novel 62 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368825572
CA2071520
63 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1060384
CA2071518
65 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2071517
rs201695021
65 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1206851602
CA350149377
66 K>M No ClinGen
gnomAD
rs1233716962
CA350149382
66 K>Q No ClinGen
gnomAD
rs1273589576
CA350149372
67 W>* No ClinGen
gnomAD
rs754458819
CA2071516
67 W>R No ClinGen
ExAC
gnomAD
CA350149365
rs1443713571
68 K>E No TOPMed
ClinGen
CA2071515
rs143724527
68 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350149350
rs1349876354
70 T>A No ClinGen
gnomAD
rs1349876354
CA350149349
70 T>S No ClinGen
gnomAD
rs1373055371
CA350149335
72 T>S No TOPMed
ClinGen
rs1439512899
CA350149325
74 L>Q No gnomAD
ClinGen
rs774826672
CA2071512
75 W>C No ClinGen
ExAC
gnomAD
TCGA novel 77 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350149296
rs1435725486
78 N>S No ClinGen
gnomAD
CA2071510
rs138835154
80 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1559081655
CA350149287
80 A>T No ClinGen
Ensembl
rs763544932
CA2071509
81 I>T No ClinGen
ExAC
gnomAD
CA64427744
rs973621193
81 I>V No ClinGen
Ensembl
rs140409125
CA2071508
82 A>E No ESP
ExAC
gnomAD
ClinGen
rs140409125
CA2071507
COSM1015313
82 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ESP
ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs1179192321
CA350149271
83 D>N No ClinGen
gnomAD
rs1482163820
CA350149263
84 F>V No ClinGen
gnomAD
rs771032609
CA2071504
85 I>L No ExAC
gnomAD
ClinGen
rs771032609
CA2071505
85 I>V No ExAC
gnomAD
ClinGen
rs941064280
CA64427737
88 L>V No gnomAD
ClinGen
rs747291714
CA2071502
89 F>L No ClinGen
ExAC
gnomAD
CA350149219
rs1232393144
91 P>S No gnomAD
ClinGen
CA2071501
rs777539632
93 Y>S No ExAC
gnomAD
ClinGen
CA2071500
rs758246603
94 I>T No ClinGen
ExAC
gnomAD
CA2071498
rs778824583
96 Y>C No ExAC
gnomAD
ClinGen
CA2071497
rs754464282
98 A>T No ExAC
gnomAD
ClinGen
rs1469493921
CA350149167
99 M>I No ClinGen
TOPMed
rs753268123
CA2071496
100 N>H No ClinGen
ExAC
gnomAD
CA2071495
rs779655651
103 W>C No ClinGen
ExAC
gnomAD
rs868820125
CA64427729
104 P>S No ClinGen
Ensembl
rs1335038546
CA350149124
105 F>S No TOPMed
ClinGen
TCGA novel 106 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA64427726
rs979898365
107 I>V No ClinGen
Ensembl
rs755718806
CA2071494
112 A>V No ClinGen
ExAC
gnomAD
rs1471646461
CA350149070
113 N>S No gnomAD
ClinGen
TCGA novel 114 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA64427723
rs372858527
115 F>L No ClinGen
ESP
TOPMed
gnomAD
CA2071493
rs750162244
119 L>S No ExAC
gnomAD
ClinGen
CA2071491
rs763418055
120 N>D No ClinGen
ExAC
gnomAD
rs765681623
CA2071489
121 M>T No ExAC
gnomAD
ClinGen
rs753218684
CA2071490
121 M>V No ClinGen
ExAC
gnomAD
rs529464072
CA64427714
122 F>C No ClinGen
Ensembl
CA2071488
rs138365581
124 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2071487
rs776538578
126 F>C No ClinGen
ExAC
gnomAD
rs1327844140
CA350148986
126 F>I No ClinGen
gnomAD
CA2071485
rs760872653
127 F>L No ClinGen
ExAC
gnomAD
CA2071484
rs771786296
127 F>S No ExAC
gnomAD
ClinGen
rs759796967 127 F>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2071483
rs771786296
127 F>Y No ClinGen
ExAC
gnomAD
CA64427707
rs201014131
128 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2071480
rs201014131
128 L>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1291127448
CA350148964
130 V>M No gnomAD
ClinGen
rs539447013
CA2071478
131 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA2071479
rs778730470
131 I>T No ClinGen
ExAC
gnomAD
CA350148958
rs1346483722
131 I>V No ClinGen
TOPMed
CA2071477
rs749315120
132 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 135 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774765099
CA64427701
136 Y>C No Ensembl
ClinGen
TCGA novel 137 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350148918
rs1186663240
137 I>L No ClinGen
gnomAD
CA2071476
rs779420589
137 I>N No ExAC
gnomAD
ClinGen
CA2071474
rs750031706
138 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA2071473
rs140764131
139 L>S No ESP
ExAC
TOPMed
ClinGen
CA2071472
rs758783890
140 I>T No ExAC
gnomAD
ClinGen
CA350148892
rs1467692061
141 H>Y No gnomAD
ClinGen
CA64427696
rs769016501
142 P>H No gnomAD
ClinGen
CA350148865
rs993078046
145 S>C No ClinGen
TOPMed
rs993078046
CA64427691
145 S>F No TOPMed
ClinGen
rs150952559
CA2071471
145 S>P No ESP
ExAC
TOPMed
ClinGen
rs759952214
CA2071469
146 H>Q No ExAC
TOPMed
gnomAD
ClinGen
rs765670533
CA2071470
COSM1208567
146 H>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA350148864
rs1466582146
146 H>Y No ClinGen
TOPMed
rs766309138
CA2071467
147 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs763256948
CA2071468
147 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2071466
rs760747839
148 H>Y No ExAC
gnomAD
ClinGen
COSM1326501
CA2071465
rs150274953
149 R>* ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150274953
CA350148848
149 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA64427684
rs1000101925
149 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2071464
rs558470352
151 L>F No 1000Genomes
ExAC
gnomAD
ClinGen
rs762062191
CA2071463
152 K>R No ExAC
gnomAD
ClinGen
rs372527355
CA350148826
153 N>D No ClinGen
ESP
ExAC
TOPMed
CA2071460
rs775713404
153 N>I No ExAC
gnomAD
ClinGen
rs775713404
CA2071461
153 N>S No ClinGen
ExAC
gnomAD
rs372527355
CA2071462
153 N>Y No ESP
ExAC
TOPMed
ClinGen
CA2071458
rs144883816
156 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147291301
CA2071456
157 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350148802
rs147291301
157 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350148799
rs1449364415
158 I>L No ClinGen
gnomAD
rs535009332
CA64427673
158 I>T No ClinGen
1000Genomes
gnomAD
CA350148798
rs1449364415
158 I>V No gnomAD
ClinGen
CA2071455
rs780894474
159 I>T No ClinGen
ExAC
gnomAD
rs756935085
CA2071454
160 F>I No ExAC
gnomAD
ClinGen
rs756935085
CA350148788
COSM209719
160 F>L large_intestine [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
CA2071453
rs746722419
162 W>* No ExAC
gnomAD
ClinGen
rs779131200
CA2071452
162 W>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 163 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350148750
rs1342159018
165 A>G No ClinGen
gnomAD
rs1304791236
CA350148741
COSM1306345
167 L>V Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
TCGA novel 168 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2071449
rs755382525
168 I>T No ClinGen
ExAC
gnomAD
rs147720275
CA2071447
170 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA2071446
rs138788057
171 P>H No ESP
ExAC
gnomAD
ClinGen
rs1433999001
CA350148713
172 A>S No TOPMed
ClinGen
CA350148710
rs1392133952
172 A>V Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2071445
rs750471925
173 L>P No ExAC
TOPMed
gnomAD
ClinGen
rs1307594094
CA350148698
174 Y>* No TOPMed
gnomAD
ClinGen
rs569840690
COSM3425978
CA2071443
176 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2071444
rs202007589
176 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762841542
CA2071440
179 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA64427659
rs200101630
182 N>H No ClinGen
TOPMed
CA2071438
rs769828775
185 T>I No ExAC
ClinGen
rs1171427181
CA350148614
187 C>R No ClinGen
gnomAD
rs745836396
CA2071437
188 Y>C No ExAC
TOPMed
gnomAD
ClinGen
rs770620691
CA2071435
189 N>S No ExAC
TOPMed
gnomAD
ClinGen
CA2071434
rs746582947
190 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA350148562
rs1281722003
194 H>D No gnomAD
ClinGen
rs1241746877
CA350148558
194 H>R No ClinGen
TOPMed
CA350148551
rs1363916494
195 D>A No gnomAD
ClinGen
rs755257238
CA2071432
197 D>A No ClinGen
ExAC
gnomAD
rs755257238
CA2071433
197 D>G No ExAC
gnomAD
ClinGen
CA64427651
rs113939423
198 L>P No Ensembl
ClinGen
rs1359358234
CA350148517
200 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA2071430
rs780322833
201 I>M No ClinGen
ExAC
gnomAD
CA2071428
rs145032684
203 H>D No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs145032684
CA2071427
203 H>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA2071429
rs145032684
203 H>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1409038492
CA350148450
208 W>* No ClinGen
gnomAD
rs763136844
CA2071423
212 I>V No ClinGen
ExAC
gnomAD
CA2071422
rs775320834
213 I>F No ExAC
TOPMed
gnomAD
ClinGen
CA2071420
rs759530133
215 Y>C No ExAC
gnomAD
ClinGen
rs776720871
CA2071419
217 F>L No ExAC
TOPMed
gnomAD
ClinGen
CA2071417
rs760263677
218 P>S No ExAC
gnomAD
ClinGen
rs772691120
CA2071416
221 T>A No ClinGen
ExAC
gnomAD
CA350148272
rs1576029146
222 M>V No ClinGen
Ensembl
rs1472488659
CA350148252
223 S>C No gnomAD
ClinGen
CA350148247
rs1380759764
223 S>N No TOPMed
ClinGen
rs1212879940
CA350148193
227 L>S No gnomAD
ClinGen
rs1441120973
CA350148181
228 C>Y No gnomAD
ClinGen
rs141742272
CA350148160
230 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs141742272
CA2071415
230 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
COSM3407500
rs34685097
CA2071413
236 R>* central_nervous_system [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs34685097
CA2071414
236 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA2071412
rs144224629
236 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs957036197
CA64427636
237 S>N No TOPMed
ClinGen
CA2071411
rs746310435
238 I>T No ExAC
gnomAD
ClinGen
rs151283587
CA2071408
240 I>T No 1000Genomes
ExAC
gnomAD
ClinGen
rs1339865297
COSM1015312
CA350147981
243 R>G Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs369746651
CA64427631
243 R>K No ESP
TOPMed
gnomAD
ClinGen
rs542082936
CA2071407
244 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA64427628
rs979278947
246 W>R No ClinGen
TOPMed
gnomAD
CA2071406
rs758637443
247 T>I No ClinGen
ExAC
gnomAD
rs1210503671
CA350147897
248 I>M No gnomAD
ClinGen
CA350147901
rs1385761839
248 I>T No gnomAD
ClinGen
rs765063604
CA2071404
250 V>I No ClinGen
ExAC
gnomAD
rs1322676990
CA2071402
251 V>L No ClinGen
TOPMed
CA350147853
rs1184026287
253 V>M No ClinGen
gnomAD
rs1227187364
CA350147830
254 A>S No TOPMed
ClinGen
CA64427622
rs200520559
256 V>A No 1000Genomes
gnomAD
ClinGen
CA350147812
rs1256355804
256 V>M No ClinGen
TOPMed
rs924422899
CA64427620
259 W>G No Ensembl
ClinGen
rs753785690
CA2071400
260 T>I No ExAC
gnomAD
ClinGen
rs760577634
CA2071398
261 P>S No ExAC
gnomAD
ClinGen
CA350147729
rs1335817851
263 H>Q No TOPMed
gnomAD
ClinGen
CA64427615
rs771185033
263 H>R No Ensembl
ClinGen
rs1482354373
CA350147705
266 S>G No ClinGen
TOPMed
CA2071395
rs761473728
266 S>T No ClinGen
ExAC
gnomAD
rs865775052
CA64427610
267 I>N No ClinGen
Ensembl
rs773998045
CA2071394
267 I>V No ExAC
gnomAD
ClinGen
CA2071393
rs187311851
268 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA350147652
rs1576028822
269 E>Q No Ensembl
ClinGen
CA350147650
rs1576028812
269 E>V No ClinGen
Ensembl
rs1437133238
CA350147636
270 L>P No ClinGen
gnomAD
CA350147627
rs1362421203
271 T>I No ClinGen
gnomAD
CA350147622
rs1576028778
272 I>V No ClinGen
Ensembl
rs746257146
CA2071392
274 H>R No ClinGen
ExAC
gnomAD
CA350147564
rs1415934127
276 S>N No TOPMed
ClinGen
TCGA novel 277 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747533227
COSM1015311
CA2071389
282 M>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA2071388
rs777891254
285 G>A No ClinGen
ExAC
gnomAD
CA350147453
rs777891254
285 G>E No ClinGen
ExAC
gnomAD
CA350147427
rs1403989213
287 P>H No gnomAD
ClinGen
rs776449349
RCV000880999
288 L>missing No ClinVar
dbSNP
rs752897727
CA2071386
288 L>F No ClinGen
ExAC
gnomAD
CA64427601
rs201030518
292 L>W No ClinGen
1000Genomes
gnomAD
rs142324185
CA2071383
293 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1017490140
CA64427599
293 A>T No ClinGen
Ensembl
CA2071382
rs374533476
294 F>L No ESP
ExAC
gnomAD
ClinGen
rs1320918560
CA350147334
295 L>P No ClinGen
gnomAD
CA2071381
rs766344244
296 N>S No ClinGen
ExAC
gnomAD
rs750343149
CA2071379
299 L>S No ClinGen
ExAC
gnomAD
rs750343149
CA350147280
299 L>W No ExAC
gnomAD
ClinGen
rs766986682
CA2071378
300 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA64427592
rs371683882
301 P>L No ClinGen
ESP
TOPMed
CA350147245
rs371683882
301 P>R No ESP
TOPMed
ClinGen
rs1369055761
CA350147212
303 L>P No TOPMed
gnomAD
ClinGen
rs1576028510
CA350147167
307 I>T No ClinGen
Ensembl
VAR_023839
CA2071376
rs3732083
307 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA350147124
rs763717829
310 K>R No ExAC
gnomAD
ClinGen
CA2071374
rs763717829
310 K>T No ClinGen
ExAC
gnomAD
rs1432003400
CA350147102
312 Q>E No gnomAD
ClinGen
rs762637894
CA2071373
314 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs776972032
CA2071372
314 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1006315490
CA64427583
315 F>V No gnomAD
ClinGen
rs1487749554
CA350147052
316 R>L No ClinGen
TOPMed
rs1487749554
CA2071368
316 R>Q No TOPMed
ClinGen
COSM1168925
CA2071370
rs142744381
316 R>W pancreas [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA2071367
rs773594709
319 V>G No ExAC
gnomAD
ClinGen
CA64427578
rs13423662
320 A>V No ClinGen
Ensembl
rs772149134
CA2071366
323 L>F No ExAC
gnomAD
ClinGen
rs1424059846
CA350146972
324 K>N No ClinGen
TOPMed
rs748259369
CA2071365
324 K>R No ClinGen
ExAC
gnomAD
CA350146967
rs1273873581
325 Y>C No gnomAD
ClinGen
TCGA novel 325 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412229689
CA350146955
327 L>P No TOPMed
ClinGen
rs368120852
CA64427573
330 V>I No ESP
ClinGen
CA350146927
rs1313463097
331 S>N No gnomAD
ClinGen
rs949694979
CA64427571
332 C>F No TOPMed
gnomAD
ClinGen
rs749580664
COSM1669689
CA2071362
335 T>R ovary [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA2071360
rs755868010
337 S>N No ExAC
TOPMed
gnomAD
ClinGen
rs755868010
CA350146889
337 S>T No ExAC
TOPMed
gnomAD
ClinGen
rs1412111402
CA350146883
338 E>* No TOPMed
gnomAD
ClinGen
CA64427564
rs184432069
338 E>G No ClinGen
1000Genomes
rs1412111402
CA350146885
338 E>K No ClinGen
TOPMed
gnomAD
CA2071359
rs572438977
339 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs757236817
CA2071357
340 L>R No ExAC
gnomAD
ClinGen
CA350146862
rs1360975517
341 R>K No gnomAD
ClinGen
CA2071356
rs751042183
341 R>S No ClinGen
ExAC
gnomAD
rs1365795644
CA350146851
343 S>P No ClinGen
TOPMed
CA2071354
rs141787369
349 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2071353
rs762576602
349 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 350 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 350 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350146805
rs1559080292
350 L>V No ClinGen
Ensembl
CA2071349
rs760975303
352 E>G No ClinGen
ExAC
gnomAD
CA2071350
rs760975303
352 E>V No ExAC
gnomAD
ClinGen
CA2071348
rs773717933
354 A>S No ClinGen
ExAC
gnomAD
rs934416716
CA64427551
355 Q>R No ClinGen
Ensembl

No associated diseases with P46091

1 regional properties for P46091

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 55 - 304 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Internalizes in presence of its ligand, TAFA1 (By similarity)
  • Internalizes efficiently in response to RARRES2 (PubMed:27716822)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
integral component of plasma membrane The component of the plasma 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.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.

5 GO annotations of molecular function

Name Definition
adipokinetic hormone binding Binding to an adipokinetic hormone. Adipokinetic hormones (AKHs) are peptide hormones that are involved in the mobilization of sugar and lipids from the insect fat body during energy-requiring activities such as flight and locomotion. They also contribute to hemolymph sugar homeostasis.
adipokinetic hormone receptor activity Combining with an adipokinetic hormone to initiate a change in cell activity. Adipokinetic hormones (AKHs) are protein or peptide hormones that are important for sugar and fat homeostasis in metazoa. In insects, they mobilize sugar and lipids from the insect fat body during energy-requiring activities such as flight and locomotion. They also contribute to hemolymph sugar homeostasis.
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
neuropeptide binding Interacting selectively and non-covalently and stoichiometrically with neuropeptides, peptides with direct synaptic effects (peptide neurotransmitters) or indirect modulatory effects on the nervous system (peptide neuromodulators).
peptide binding Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds.

3 GO annotations of biological process

Name Definition
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
neuropeptide signaling pathway A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.

120 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
P32239 CCKBR Gastrin/cholecystokinin type B receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
P35348 ADRA1A Alpha-1A adrenergic receptor Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
Q9BXC0 HCAR1 Hydroxycarboxylic acid receptor 1 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
Q9Y5Y4 PTGDR2 Prostaglandin D2 receptor 2 Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEDLEETLFE EFENYSYDLD YYSLESDLEE KVQLGVVHWV SLVLYCLAFV LGIPGNAIVI
70 80 90 100 110 120
WFTGFKWKKT VTTLWFLNLA IADFIFLLFL PLYISYVAMN FHWPFGIWLC KANSFTAQLN
130 140 150 160 170 180
MFASVFFLTV ISLDHYIHLI HPVLSHRHRT LKNSLIVIIF IWLLASLIGG PALYFRDTVE
190 200 210 220 230 240
FNNHTLCYNN FQKHDPDLTL IRHHVLTWVK FIIGYLFPLL TMSICYLCLI FKVKKRSILI
250 260 270 280 290 300
SSRHFWTILV VVVAFVVCWT PYHLFSIWEL TIHHNSYSHH VMQAGIPLST GLAFLNSCLN
310 320 330 340 350
PILYVLISKK FQARFRSSVA EILKYTLWEV SCSGTVSEQL RNSETKNLCL LETAQ