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 Q16880

Entry ID Method Resolution Chain Position Source
AF-Q16880-F1 Predicted AlphaFoldDB

327 variants for Q16880

Variant ID(s) Position Change Description Diseaes Association Provenance
rs756087753
CA3053420
5 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1196426669
CA358000936
6 P>L No ClinGen
gnomAD
CA358000941
rs1578415194
7 Y>C No ClinGen
Ensembl
CA358000986
rs1322911390
13 S>R No ClinGen
gnomAD
rs551137363
CA358000989
14 A>S No ClinGen
ExAC
gnomAD
rs551137363
CA3053422
14 A>T No ClinGen
ExAC
gnomAD
rs757394177
CA3053423
17 I>V No ClinGen
ExAC
gnomAD
rs977238511
CA104626785
18 A>E No ClinGen
TOPMed
gnomAD
CA104626784
rs1043347555
18 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs977238511
CA358001014
18 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3053426
rs772120149
20 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA358001031
rs1230493110
21 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358001028
rs1330029348
21 A>T No ClinGen
gnomAD
rs747287967
CA3053429
25 I>V No ClinGen
ExAC
gnomAD
CA3053431
rs145205528
26 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3053432
rs145205528
26 V>M Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1174282310
CA358001072
28 P>S No ClinGen
TOPMed
rs774055289
CA3053434
30 M>L No ClinGen
ExAC
gnomAD
rs1173051047
CA358001089
30 M>T No ClinGen
gnomAD
CA358001130
rs1251936769
35 M>I No ClinGen
gnomAD
rs759228056
CA3053435
35 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA3053436
rs201002468
36 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1578415355
CA358001153
38 F>L No ClinGen
Ensembl
rs369703582
CA3053437
39 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1406867604
CA358001163
40 T>A No ClinGen
gnomAD
rs369373697
CA3053438
40 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358001166
rs369373697
40 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1406867604
CA358001164
40 T>S No ClinGen
gnomAD
CA3053441
rs753818310
41 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA358001171
rs1206560843
42 A>T No ClinGen
TOPMed
rs149131940
CA3053443
43 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358001184
rs1560676041
44 A>T No ClinGen
Ensembl
rs150551951
CA3053447
46 H>D No ClinGen
1000Genomes
ExAC
gnomAD
CA358001201
rs768880144
46 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1280490256
CA358001206
47 E>D No ClinGen
gnomAD
CA3053449
rs200875294
47 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200875294
CA104626790
47 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370760289
CA3053450
51 H>R No ClinGen
ESP
ExAC
gnomAD
rs770216585
CA3053451
52 T>S No ClinGen
ExAC
gnomAD
CA104626791
rs769180706
53 V>L No ClinGen
TOPMed
gnomAD
rs897545387
CA104626792
54 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs774987624
CA3053455
61 D>H No ClinGen
ExAC
gnomAD
rs760580655
CA3053456
62 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs760580655
CA3053457
62 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3053459
rs114818124
63 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765219145
CA3053460
63 A>V No ClinGen
ExAC
gnomAD
rs750548143
CA3053461
66 N>D No ClinGen
ExAC
gnomAD
TCGA novel 67 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3053462
rs758379102
67 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1437485580
CA358001354
70 L>P No ClinGen
gnomAD
rs1368478542
CA358001362
71 Q>H No ClinGen
gnomAD
CA358001360
rs1276354982
71 Q>R No ClinGen
gnomAD
rs780372131
CA3053463
72 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3053464
rs141798376
72 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358001389
rs1373455475
76 I>V No ClinGen
TOPMed
rs1027681211
CA104626794
80 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 80 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3053465
rs546892524
84 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1223268640
CA358001448
84 A>V No ClinGen
gnomAD
CA358001466
rs781541134
87 Q>L No ClinGen
ExAC
gnomAD
rs781541134
CA3053466
87 Q>R No ClinGen
ExAC
gnomAD
CA358001486
rs1355169778
90 M>T No ClinGen
TOPMed
gnomAD
rs374700060
CA3053468
91 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370438338
CA3053467
91 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA104626797
rs1031431760
92 N>S No ClinGen
TOPMed
gnomAD
rs1560676380
CA358001506
93 I>T No ClinGen
Ensembl
CA358001523
rs1560676395
96 G>R No ClinGen
Ensembl
CA3053470
rs745419490
97 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs775284168
CA3053472
100 A>P No ClinGen
ExAC
gnomAD
rs1298078821
CA358001560
COSM201859
102 E>K Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA358001589
rs1578415767
106 I>L No ClinGen
Ensembl
CA104626798
rs1022455967
106 I>M No ClinGen
TOPMed
rs137983750
CA3053474
107 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA104626799
rs939203331
109 H>R No ClinGen
Ensembl
CA358001608
rs1413852774
109 H>Y No ClinGen
TOPMed
CA358001627
rs1225187296
111 T>I No ClinGen
gnomAD
CA3053475
rs776592565
115 D>A No ClinGen
ExAC
gnomAD
rs776592565
CA3053476
115 D>G No ClinGen
ExAC
gnomAD
rs765306681
CA3053477
COSM1618308
117 M>I liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA358001663
rs1356405979
117 M>L No ClinGen
gnomAD
rs1159400206
CA358001673
118 V>F No ClinGen
gnomAD
rs562002492
CA3053478
120 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA358001692
rs1213400141
121 H>Y No ClinGen
gnomAD
CA3053480
rs766364291
125 Q>H No ClinGen
ExAC
gnomAD
rs751589059
CA3053481
126 G>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 126 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 129 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358001756
rs1165229419
130 E>D No ClinGen
TOPMed
rs1165079106
CA358001749
130 E>K No ClinGen
gnomAD
CA358001763
rs1475953902
131 K>N No ClinGen
TOPMed
CA104626801
rs928205856
132 F>L No ClinGen
TOPMed
rs1458911664
CA358001781
134 L>V No ClinGen
Ensembl
TCGA novel 138 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1317545842
CA358001819
140 N>S No ClinGen
gnomAD
TCGA novel 142 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3775493
CA104626803
rs868025816
144 G>R Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA3053487
rs141691690
146 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3053488
rs150529068
149 H>Y No ClinGen
ESP
ExAC
gnomAD
RCV000956247
rs111563693
CA3053489
152 G>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3053490
rs760002151
153 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs768456240
CA3053491
154 K>E No ClinGen
ExAC
gnomAD
TCGA novel 161 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765529828
CA3053494
164 Y>C No ClinGen
ExAC
gnomAD
rs773266808
CA3053495
166 A>T No ClinGen
ExAC
gnomAD
TCGA novel 167 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1283740995
CA358001998
167 E>A No ClinGen
TOPMed
CA3053496
rs762802414
169 G>C No ClinGen
ExAC
gnomAD
rs371402834
CA3053498
COSM585664
171 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358002033
rs1336327132
173 P>S No ClinGen
TOPMed
rs1451358045
CA358002049
175 A>V No ClinGen
gnomAD
CA3053503
rs764375660
177 V>I No ClinGen
ExAC
gnomAD
rs1560676854
CA358002064
178 P>A No ClinGen
Ensembl
CA358002112
rs1354234975
185 T>A No ClinGen
gnomAD
rs1019501372
CA104626804
185 T>K No ClinGen
TOPMed
COSM146074
CA3053505
rs568970139
187 R>C Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358002125
rs568970139
187 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA104626805
rs866951708
COSM1050280
187 R>H large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs138986527
CA104626806
COSM107510
188 M>I skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA3053508
rs754514949
195 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs267599991
CA104626807
198 G>D No ClinGen
Ensembl
CA3053511
rs769419385
201 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1485377064
CA358002239
204 R>* No ClinGen
gnomAD
CA358002268
rs1252849477
208 S>T No ClinGen
gnomAD
CA3053514
rs770801564
211 V>L No ClinGen
ExAC
gnomAD
CA3053515
rs774311331
212 L>V No ClinGen
ExAC
gnomAD
rs759658397
CA3053516
216 E>* No ClinGen
ExAC
gnomAD
CA3053517
COSM1186637
rs767582586
217 R>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs775484028
CA3053518
218 I>M No ClinGen
ExAC
gnomAD
rs533936789
CA3053519
220 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764332315
CA3053520
221 K>M No ClinGen
ExAC
gnomAD
rs754186990
CA3053521
221 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA3053522
rs757610362
222 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs765714306
CA3053523
223 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA358002374
rs1301872081
224 L>P No ClinGen
gnomAD
CA104626809
rs750954771
224 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA3053526
VAR_052466
rs4148254
226 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755743614
CA3053528
228 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs777438600
CA3053529
231 Y>C No ClinGen
ExAC
gnomAD
CA358002425
rs1199240083
232 D>Y No ClinGen
Ensembl
rs1326412021
CA358002440
234 V>L No ClinGen
TOPMed
CA358002478
rs1450026783
240 W>R No ClinGen
gnomAD
rs181812605
CA104626815
241 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3053532
rs181812605
241 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745812383
CA3053533
244 T>A No ClinGen
ExAC
gnomAD
rs61733375
CA3053534
245 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3053537
rs768800801
246 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs768800801
CA3053538
246 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA3053536
rs760771718
COSM273439
246 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA358002521
rs1396195889
247 A>T No ClinGen
TOPMed
rs1370848456
CA358002541
250 F>L No ClinGen
gnomAD
CA358002559
rs1578416482
252 R>S No ClinGen
Ensembl
CA104626816
rs750749006
254 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA358002569
rs1298425682
254 T>I No ClinGen
gnomAD
CA3053541
rs750749006
254 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1305817814
CA358002583
257 N>D No ClinGen
gnomAD
rs763565520
CA3053542
258 V>D No ClinGen
ExAC
gnomAD
rs1039442570
CA104626817
259 V>I No ClinGen
TOPMed
gnomAD
rs752286423
CA3053544
265 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3053547
rs753512165
267 K>N No ClinGen
ExAC
gnomAD
rs1188174109
CA358002657
269 A>S No ClinGen
gnomAD
CA3053549
rs199775914
271 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3053548
rs199775914
RCV000436700
271 P>S No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA358002683
rs1352977065
273 P>L No ClinGen
TOPMed
CA3053550
rs745617977
273 P>S No ClinGen
ExAC
gnomAD
rs1308859555
CA357741806
275 D>H No ClinGen
TOPMed
CA357741819
rs1368638945
276 L>I No ClinGen
gnomAD
rs754963742
CA3053596
279 W>C No ClinGen
ExAC
gnomAD
rs780951943
CA3053597
281 N>H No ClinGen
ExAC
gnomAD
TCGA novel 282 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1271769193
CA357741926
284 N>K No ClinGen
gnomAD
rs868236165
CA103637045
285 E>K No ClinGen
Ensembl
CA357741955
rs1468652873
287 G>S No ClinGen
gnomAD
rs1255323771
CA357741971
289 V>L No ClinGen
gnomAD
CA103637055
rs201130569
294 G>E No ClinGen
Ensembl
CA357742025
rs1467448681
297 V>A No ClinGen
gnomAD
CA3053599
rs748298837
299 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 300 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3053600
rs756236247
301 S>L No ClinGen
ExAC
gnomAD
rs771207594
CA3053603
303 D>E No ClinGen
ExAC
gnomAD
rs151058343
CA3053602
303 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs930175519
CA103637110
304 I>T No ClinGen
TOPMed
gnomAD
CA357742083
rs1167419608
306 N>I No ClinGen
gnomAD
CA357742106
rs1439966593
310 G>R No ClinGen
gnomAD
CA3053606
rs772679865
313 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1269099621
CA357742145
316 P>S No ClinGen
gnomAD
rs764723184
CA3053609
320 I>T No ClinGen
ExAC
gnomAD
rs772729554
CA3053629
326 P>H No ClinGen
ExAC
gnomAD
rs772729554
CA357742231
326 P>L No ClinGen
ExAC
gnomAD
CA357742227
rs1255599242
326 P>T No ClinGen
gnomAD
CA3053630
rs762408070
329 K>E No ClinGen
ExAC
gnomAD
rs559172034
CA3053632
338 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1242454396
CA357742314
339 E>K No ClinGen
Ensembl
TCGA novel 340 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357742322
rs1325497481
340 W>R No ClinGen
TOPMed
rs1388539358
CA357742332
341 L>I No ClinGen
TOPMed
COSM1753499
CA103638376
rs1048000224
345 D>N urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
CA3053651
rs770333571
349 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs369935663
CA3053652
351 K>E No ClinGen
ESP
ExAC
gnomAD
CA357742413
rs1341813817
351 K>R No ClinGen
TOPMed
rs1295817133
CA357742423
352 I>M No ClinGen
TOPMed
rs939032234
CA103640450
353 K>R No ClinGen
TOPMed
CA103640465
rs201757511
356 L>M No ClinGen
Ensembl
rs769980791
CA103640469
363 S>G No ClinGen
gnomAD
CA357742518
rs1237101519
366 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357742526
rs1578469841
367 T>S No ClinGen
Ensembl
VAR_052467
CA3053654
rs11098261
368 I>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs759111551
COSM354783
CA3053653
368 I>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3053655
rs775444770
369 Y>H No ClinGen
ExAC
gnomAD
CA357742541
rs1253224054
370 H>Y No ClinGen
gnomAD
CA357742881
rs1191649636
385 D>G No ClinGen
gnomAD
rs764180439
CA3053657
386 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA3053659
rs762019680
390 V>I No ClinGen
ExAC
gnomAD
CA3053660
rs563311383
391 Q>R No ClinGen
1000Genomes
ExAC
CA3053661
rs750461264
394 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA103640521
rs867183770
396 G>R No ClinGen
Ensembl
rs1165243891
CA357742963
397 I>M No ClinGen
gnomAD
CA103640538
rs867768477
401 W>* No ClinGen
Ensembl
rs1367522912
CA357743006
404 V>I No ClinGen
gnomAD
rs751958761
CA3053667
408 E>G No ClinGen
ExAC
rs751958761
CA3053666
408 E>V No ClinGen
ExAC
rs1297850638
CA357743042
409 L>F No ClinGen
TOPMed
gnomAD
CA357743051
rs1205358432
410 Y>C No ClinGen
TOPMed
rs1305950399
CA357743047
410 Y>H No ClinGen
gnomAD
TCGA novel 414 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148890217
CA3053670
415 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs892534582
CA103640628
415 K>T No ClinGen
Ensembl
rs1360619233
CA357743089
416 V>A No ClinGen
TOPMed
rs201342678
CA3053671
418 N>S No ClinGen
1000Genomes
ExAC
TOPMed
rs1211589783
CA357743116
420 P>R No ClinGen
TOPMed
gnomAD
CA3053672
rs745331371
420 P>S No ClinGen
ExAC
gnomAD
CA3053674
rs775263216
421 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1373770804
CA357743203
423 R>C No ClinGen
TOPMed
gnomAD
rs1225318306
CA357743206
423 R>H No ClinGen
gnomAD
CA357743219
rs1439937747
424 Q>H No ClinGen
TOPMed
rs1304700683
CA357743223
425 R>G No ClinGen
gnomAD
rs762999772
CA3053703
428 K>M No ClinGen
ExAC
gnomAD
rs773177758
CA3053702
428 K>Q No ClinGen
ExAC
gnomAD
rs1368739961
CA357743270
429 L>F No ClinGen
TOPMed
CA357743284
rs1307522935
430 S>L No ClinGen
TOPMed
CA357743293
rs1425435512
431 E>G No ClinGen
TOPMed
rs1484428990
CA357743306
432 I>T No ClinGen
gnomAD
rs1387276292
CA357743325
434 K>E No ClinGen
TOPMed
CA357743366
rs1481163907
437 P>R No ClinGen
gnomAD
rs759764366
CA3053706
437 P>S No ClinGen
ExAC
gnomAD
COSM293349
CA3053707
rs767674399
439 H>Y Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA357743405
rs1378949276
440 P>L No ClinGen
gnomAD
CA357743434
COSM1231702
rs1174858436
443 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs371750245
CA3053711
445 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA3053710
rs551586225
445 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA3053709
rs761081352
445 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs566522909
RCV000908615
CA3053712
446 Y>C No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA357743479
rs1444036512
448 I>L No ClinGen
gnomAD
CA357743487
rs1329075502
449 D>H No ClinGen
gnomAD
rs779724694
CA3053713
449 D>V No ClinGen
ExAC
gnomAD
rs754712627
CA3053715
450 Y>* No ClinGen
ExAC
gnomAD
CA3053716
rs780868900
453 R>C No ClinGen
ExAC
gnomAD
CA3053717
rs747939994
453 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3053718
rs149080130
RCV000904877
455 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749224062
CA3053720
457 A>D No ClinGen
ExAC
gnomAD
TCGA novel 457 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774435490
CA3053722
461 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA103647360
rs946873966
462 A>T No ClinGen
Ensembl
TCGA novel 462 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA103647384
rs772318028
463 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA3053724
rs772318028
463 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 464 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761012593
CA3053726
467 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA3053727
rs555231076
468 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1308916553
CA357743749
471 Q>H No ClinGen
TOPMed
CA3053730
rs765802959
471 Q>R No ClinGen
ExAC
CA357743758
rs1189722997
472 Y>H No ClinGen
Ensembl
TCGA novel 474 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357743791
rs535480025
475 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA357743806
rs1221952946
477 I>T No ClinGen
TOPMed
CA3053732
rs556905006
477 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA3053734
rs752387548
478 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA103647447
COSM420234
rs77695673
478 A>S Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs77695673
CA103647440
478 A>T No ClinGen
Ensembl
CA357743821
rs1283893891
480 V>M No ClinGen
TOPMed
rs1369065100
CA357743850
484 G>V No ClinGen
Ensembl
rs1578479639
CA357743859
486 A>P No ClinGen
Ensembl
rs755651521
CA3053735
487 L>F No ClinGen
ExAC
gnomAD
rs1363501471
CA357743870
488 L>I No ClinGen
gnomAD
rs749033096
CA3053737
489 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs749033096
CA357743881
489 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA3053740
rs746007469
493 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs577333010
CA3053741
494 W>G No ClinGen
ExAC
gnomAD
rs929468365
CA103647500
494 W>S No ClinGen
TOPMed
CA357743920
rs1346120592
495 V>A No ClinGen
TOPMed
CA3053742
rs545962121
495 V>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 496 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3053744
rs768716521
498 F>S No ClinGen
ExAC
gnomAD
CA103647537
rs1051114979
500 Y>C No ClinGen
gnomAD
CA103647534
rs377204507
500 Y>D No ClinGen
ESP
TOPMed
rs762239558
CA3053746
501 R>S No ClinGen
ExAC
gnomAD
TCGA novel 503 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3053747
rs369737744
503 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148217774
CA3053749
504 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3053750
rs767054172
504 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs755812681
CA3053752
507 W>L No ClinGen
ExAC
gnomAD
rs141178340
CA3053751
507 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1355711044
CA357744004
508 S>T No ClinGen
gnomAD
CA357744020
rs1234232861
510 N>S No ClinGen
gnomAD
CA103647573
rs372348441
511 K>E No ClinGen
ESP
TOPMed
gnomAD
CA3053754
rs147354647
512 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183262188
CA3053753
512 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1354736740
CA357744030
512 H>Y No ClinGen
gnomAD
CA103647595
rs572629718
513 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA3053757
rs369142444
515 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137869490
CA103647618
518 H>R No ClinGen
ESP
TOPMed
CA357744092
rs1578479960
521 N>D No ClinGen
Ensembl
CA3053759
rs143336365
521 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3053760
rs199828337
523 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM2155299
CA357744112
rs1290898525
524 L>F Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA357744141
rs1578480019
528 Y>C No ClinGen
Ensembl
rs774647733
CA3053763
528 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 530 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357744155
rs1387053276
530 R>K No ClinGen
TOPMed
gnomAD
rs1375379387
CA357744161
531 N>D No ClinGen
TOPMed
CA3053765
rs773641223
532 G>V No ClinGen
ExAC
gnomAD
rs1025445689
CA357744176
533 H>P No ClinGen
gnomAD
rs1025445689
CA103647680
533 H>R No ClinGen
gnomAD
CA103647696
rs111805017
534 I>S No ClinGen
gnomAD
rs111805017
CA103647693
534 I>T No ClinGen
gnomAD
rs1578480076
CA357744181
534 I>V No ClinGen
Ensembl
CA103647703
rs1010056652
535 K>E No ClinGen
TOPMed
gnomAD
rs1280585916
CA357744228
540 V>A No ClinGen
gnomAD

No associated diseases with Q16880

1 regional properties for Q16880

Type Name Position InterPro Accession
conserved_site Phosphorylase pyridoxal-phosphate attachment site 679 - 691 IPR035090

Functions

Description
EC Number 2.4.1.47 Hexosyltransferases
Subcellular Localization
  • Membrane ; Single-pass membrane protein
  • Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity Catalysis of the reaction: UDP-galactose + 2-(2-hydroxyacyl)sphingosine = UDP + 1-(beta-D-galactosyl)-2-(2-hydroxyacyl)sphingosine.
N-acylsphingosine galactosyltransferase activity Catalysis of the reaction: ceramide + UDP-galactose = D-galactosylceramide + UDP.
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Catalysis of the reaction: UDP-D-galactose + a glucosylceramide = a lactosylceramide + uridine-5'-diphosphate. The glucosylceramide has sphinganine as the long chain base.

8 GO annotations of biological process

Name Definition
central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
galactosylceramide biosynthetic process The chemical reactions and pathways resulting in the formation of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group.
glycosphingolipid metabolic process The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide.
neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
paranodal junction assembly Formation of the junction between an axon and the glial cell that forms the myelin sheath. Paranodal junctions form at each paranode, i.e. at the ends of the unmyelinated nodes of Ranvier.
peripheral nervous system development The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.
protein localization to paranode region of axon A cellular protein localization process in which a protein is transported to, or maintained at, the paranode region of an axon.

36 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q1LZI1 UGT3A1 UDP-glucuronosyltransferase 3A1 Bos taurus (Bovine) PR
O75310 UGT2B11 UDP-glucuronosyltransferase 2B11 Homo sapiens (Human) PR
P16662 UGT2B7 UDP-glucuronosyltransferase 2B7 Homo sapiens (Human) PR
Q3SY77 UGT3A2 UDP-glucuronosyltransferase 3A2 Homo sapiens (Human) PR
P36537 UGT2B10 UDP-glucuronosyltransferase 2B10 Homo sapiens (Human) PR
Q8JZZ0 Ugt3a2 UDP-glucuronosyltransferase 3A2 Mus musculus (Mouse) PR
Q64676 Ugt8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Mus musculus (Mouse) PR
Q09426 Ugt8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Rattus norvegicus (Rat) PR
Q22295 ugt-50 Putative UDP-glucuronosyltransferase ugt-50 Caenorhabditis elegans PR
Q9LSY6 UGT71B6 UDP-glycosyltransferase 71B6 Arabidopsis thaliana (Mouse-ear cress) PR
O22822 UGT74F2 UDP-glycosyltransferase 74F2 Arabidopsis thaliana (Mouse-ear cress) PR
O23382 UGT71B5 UDP-glycosyltransferase 71B5 Arabidopsis thaliana (Mouse-ear cress) PR
Q5XF20 UGT84A1 UDP-glycosyltransferase 84A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q94AB5 UGT76E12 Flavonol 3-O-glucosyltransferase UGT76E12 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FE68 UGT71C5 UDP-glycosyltransferase 71C5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FN28 UGT79B9 UDP-glycosyltransferase 79B9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LHJ2 UGT82A1 UDP-glycosyltransferase 82A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LME8 UGT85A7 UDP-glycosyltransferase 85A7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LMF1 UGT85A3 UDP-glycosyltransferase 85A3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LML6 UGT71C4 Flavonol 3-O-glucosyltransferase UGT71C4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LML7 UGT71C3 UDP-glycosyltransferase 71C3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LS16 UGT76E7 UDP-glycosyltransferase 76E7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY4 UGT71B8 UDP-glycosyltransferase 71B8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY5 UGT71B7 UDP-glycosyltransferase 71B7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY9 UGT71B1 UDP-glycosyltransferase 71B1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LXV0 UGT92A1 UDP-glycosyltransferase 92A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SCP5 UGT73C7 UDP-glycosyltransferase 73C7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SJL0 UGT86A1 UDP-glycosyltransferase 86A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ94 UGT73C5 UDP-glycosyltransferase 73C5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ95 UGT73C6 UDP-glycosyltransferase 73C6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ96 UGT73C3 UDP-glycosyltransferase 73C3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ97 UGT73C4 UDP-glycosyltransferase 73C4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ98 UGT73C2 UDP-glycosyltransferase 73C2 Arabidopsis thaliana (Mouse-ear cress) PR
O48676 UGT74B1 UDP-glycosyltransferase 74B1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQG4 UGT73B5 UDP-glycosyltransferase 73B5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZVX4 UGT90A1 UDP-glycosyltransferase 90A1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MKSYTPYFIL LWSAVGIAKA AKIIIVPPIM FESHMYIFKT LASALHERGH HTVFLLSEGR
70 80 90 100 110 120
DIAPSNHYSL QRYPGIFNST TSDAFLQSKM RNIFSGRLTA IELFDILDHY TKNCDLMVGN
130 140 150 160 170 180
HALIQGLKKE KFDLLLVDPN DMCGFVIAHL LGVKYAVFST GLWYPAEVGA PAPLAYVPEF
190 200 210 220 230 240
NSLLTDRMNL LQRMKNTGVY LISRLGVSFL VLPKYERIMQ KYNLLPEKSM YDLVHGSSLW
250 260 270 280 290 300
MLCTDVALEF PRPTLPNVVY VGGILTKPAS PLPEDLQRWV NGANEHGFVL VSFGAGVKYL
310 320 330 340 350 360
SEDIANKLAG ALGRLPQKVI WRFSGPKPKN LGNNTKLIEW LPQNDLLGHS KIKAFLSHGG
370 380 390 400 410 420
LNSIFETIYH GVPVVGIPLF GDHYDTMTRV QAKGMGILLE WKTVTEKELY EALVKVINNP
430 440 450 460 470 480
SYRQRAQKLS EIHKDQPGHP VNRTIYWIDY IIRHNGAHHL RAAVHQISFC QYFLLDIAFV
490 500 510 520 530 540
LLLGAALLYF LLSWVTKFIY RKIKSLWSRN KHSTVNGHYH NGILNGKYKR NGHIKHEKKV
K