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

29 structures for Q13616

Entry ID Method Resolution Chain Position Source
1LDJ X-ray 300 A A 17-776 PDB
1LDK X-ray 310 A PDB
1U6G X-ray 310 A A 1-776 PDB
3RTR X-ray 321 A A/C/E/G 411-776 PDB
3TDU X-ray 150 A C/D 702-776 PDB
3TDZ X-ray 200 A C/D 702-776 PDB
4F52 X-ray 300 A A/C 411-690 PDB
4P5O X-ray 311 A A/C 411-776 PDB
5V89 X-ray 155 A C 702-776 PDB
6TTU EM 370 A C 1-776 PDB
6WCQ EM 850 A D 1-434 PDB
7B5L EM 380 A C 1-776 PDB
7B5M EM 391 A C 1-776 PDB
7B5N EM 360 A C 1-776 PDB
7B5R EM 380 A C 1-776 PDB
7B5S EM 360 A C 1-776 PDB
7Z8R EM 270 A C 1-776 PDB
7Z8T EM 300 A C 1-776 PDB
7Z8V EM 270 A C 1-776 PDB
7ZBW EM 350 A C 1-776 PDB
7ZBZ EM 310 A C 1-776 PDB
8CAF X-ray 266 A E/H 698-776 PDB
8CDJ EM 340 A C 1-776 PDB
8CDK EM 332 A C 1-776 PDB
8OR0 EM 310 A A 1-776 PDB
8OR2 EM 320 A A 1-776 PDB
8OR3 EM 290 A A 1-776 PDB
8OR4 EM 380 A A 1-776 PDB
AF-Q13616-F1 Predicted AlphaFoldDB

244 variants for Q13616

Variant ID(s) Position Change Description Diseaes Association Provenance
rs746247997
CA4547055
2 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA369929892
rs1345891356
4 T>I No ClinGen
TOPMed
gnomAD
CA369929893
rs1345891356
4 T>N No ClinGen
TOPMed
gnomAD
CA4547058
rs748809924
5 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4547057
rs780747223
5 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1239708834
CA369929900
6 S>N No ClinGen
gnomAD
rs1350913287
CA369929916
8 N>I No ClinGen
gnomAD
CA369929923
rs1563152499
9 P>S No ClinGen
Ensembl
CA4547061
rs761308648
10 H>N No ClinGen
ExAC
gnomAD
TCGA novel 10 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772982147
CA4547063
13 K>R No ClinGen
ExAC
gnomAD
rs1189777955
CA369929959
14 Q>H No ClinGen
gnomAD
CA369929964
rs1267128009
15 I>T No ClinGen
gnomAD
CA4547065
rs139459592
22 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs968798254
CA169030036
23 D>Y No ClinGen
gnomAD
TCGA novel 25 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA169030060
rs868836509
27 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 28 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs978842867
CA169030062
29 Q>R No ClinGen
Ensembl
rs1390951361
CA369930066
30 Q>R No ClinGen
gnomAD
TCGA novel 31 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1366683687
CA369930093
34 R>Q No ClinGen
gnomAD
CA369930091
rs764038122
34 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA169030066
rs879040925
39 K>* No ClinGen
Ensembl
rs1265190217
CA369930163
44 E>K No ClinGen
gnomAD
rs1481189304
CA369930171
45 L>I No ClinGen
gnomAD
CA169048463
rs902254876
51 N>D No ClinGen
TOPMed
CA169048483
rs779312688
57 H>N No ClinGen
Ensembl
rs1397876437
CA369930728
60 N>H No ClinGen
gnomAD
rs750624124
CA4547090
62 A>T No ClinGen
ExAC
gnomAD
CA4547091
rs756434421
62 A>V No ClinGen
ExAC
gnomAD
rs766780739
CA4547092
63 R>Q No ClinGen
ExAC
gnomAD
CA369930767
rs1340683303
66 G>E No ClinGen
TOPMed
gnomAD
rs1364353702
CA369930781
68 P>L No ClinGen
TOPMed
CA4547096
rs375794200
70 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4547097
rs757956155
72 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA369930841
rs1287984477
77 T>I No ClinGen
TOPMed
rs777290710
CA4547098
78 P>A No ClinGen
ExAC
gnomAD
CA4547099
rs777290710
78 P>S No ClinGen
ExAC
gnomAD
CA369930846
rs1208138419
79 G>R No ClinGen
TOPMed
gnomAD
CA4547100
rs370437035
82 Q>E No ClinGen
ESP
ExAC
gnomAD
rs1012140487
CA169048607
91 R>Q No ClinGen
TOPMed
gnomAD
rs1191816111
CA369930976
97 K>N No ClinGen
gnomAD
CA369930979
rs1350257760
98 N>Y No ClinGen
TOPMed
CA4547101
rs776233411
99 Y>C No ClinGen
ExAC
gnomAD
rs1421172004
CA369930986
99 Y>H No ClinGen
gnomAD
rs1173080224
CA369930994
100 L>S No ClinGen
gnomAD
rs546220050
CA4547102
102 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 103 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547118
rs746537446
109 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 112 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs912856358
CA169050870
113 E>G No ClinGen
TOPMed
rs1310697321
CA369931110
114 S>T No ClinGen
gnomAD
CA369931117
rs1238150632
115 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA369931113
rs1379196085
115 V>I No ClinGen
gnomAD
rs780965142
CA4547120
117 K>I No ClinGen
ExAC
gnomAD
rs112964248
CA169050878
119 Y>C No ClinGen
Ensembl
CA169050882
rs896282269
125 D>H No ClinGen
TOPMed
CA169050886
rs896282269
125 D>Y No ClinGen
TOPMed
CA369931200
rs1192915299
127 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA169050890
rs535567339
132 V>G No ClinGen
1000Genomes
CA169050894
rs201555827
140 L>P No ClinGen
1000Genomes
CA369931331
rs1297726612
COSM452564
146 R>C Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
TCGA novel 152 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200692499
CA169050917
158 E>A No ClinGen
Ensembl
COSM1087020
rs760900206
CA369931440
161 S>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4547127
rs760900206
161 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1483290618
CA369931725
163 A>V No ClinGen
gnomAD
rs1485114214
CA369931793
169 D>E No ClinGen
TOPMed
gnomAD
CA169052191
rs932915000
169 D>N No ClinGen
Ensembl
CA4547157
rs764554309
175 L>V No ClinGen
ExAC
gnomAD
CA369931995
rs1358790133
181 N>S No ClinGen
gnomAD
TCGA novel 182 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547182
rs200013850
196 I>L No ClinGen
ExAC
gnomAD
CA4547204
rs759209209
213 L>M No ClinGen
ExAC
gnomAD
CA369932508
rs1323876230
224 T>A No ClinGen
gnomAD
CA169052813
rs1053588012
224 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1219738962
CA369932533
226 T>I No ClinGen
gnomAD
TCGA novel 229 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369932622
rs1584796859
233 E>G No ClinGen
Ensembl
CA169052824
rs74934754
237 L>F No ClinGen
Ensembl
rs1023480812
CA169052820
237 L>W No ClinGen
TOPMed
TCGA novel 237 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1201111608
CA369932729
243 F>I No ClinGen
gnomAD
TCGA novel 245 T>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752534699
CA4547206
248 S>R No ClinGen
ExAC
gnomAD
rs764071543
CA4547208
256 P>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 267 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775057054
CA369707382
267 R>H No ClinGen
ExAC
gnomAD
rs775057054
CA4547226
267 R>P No ClinGen
ExAC
gnomAD
CA369707385
rs1176100705
268 L>V No ClinGen
gnomAD
rs368571591
CA168859990
269 L>R No ClinGen
ESP
CA369707400
rs1311947691
270 E>D No ClinGen
gnomAD
CA369707406
rs1584800895
271 E>G No ClinGen
Ensembl
rs1230503242
CA369707410
272 Q>K No ClinGen
TOPMed
CA369707433
rs1584800902
275 V>G No ClinGen
Ensembl
rs1584800909
CA369707447
277 V>G No ClinGen
Ensembl
rs1004256867
CA168860006
281 E>K No ClinGen
Ensembl
rs1037111268
CA168860015
282 S>G No ClinGen
Ensembl
rs1341513199
CA369707491
283 T>I No ClinGen
gnomAD
TCGA novel 284 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547228
rs763757566
285 D>H No ClinGen
ExAC
CA369707526
rs1563163316
288 A>G No ClinGen
Ensembl
rs1339244491
CA369707586
297 E>K No ClinGen
gnomAD
rs765699461
CA168860065
305 T>A No ClinGen
Ensembl
rs1287095638
CA369707686
310 L>V No ClinGen
gnomAD
TCGA novel 312 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA168860075
rs996061394
313 A>S No ClinGen
Ensembl
rs1270169632
CA369707774
320 G>E No ClinGen
TOPMed
rs1584801715
CA369707779
321 R>C No ClinGen
Ensembl
CA369707780
rs1189978345
COSM205829
321 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1310175647
CA369707783
CA369707785
322 M>L No ClinGen
gnomAD
rs1351484109
CA369707804
324 N>S No ClinGen
gnomAD
CA4547250
rs760633181
330 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 339 L>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1441124789
CA369707944
345 H>D No ClinGen
gnomAD
rs754321883
CA168860976
348 G>V No ClinGen
Ensembl
rs902742776
CA369708001
353 E>A No ClinGen
TOPMed
CA168860986
rs902742776
353 E>G No ClinGen
TOPMed
rs1283415610
CA369708015
355 C>G No ClinGen
TOPMed
CA4547253
rs148771366
358 A>S No ClinGen
ESP
ExAC
TOPMed
CA4547294
rs750720092
365 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA168877067
rs994348862
370 V>L No ClinGen
TOPMed
gnomAD
CA369708714
rs994348862
370 V>M No ClinGen
TOPMed
gnomAD
CA168877079
rs17853287
375 K>R No ClinGen
Ensembl
TCGA novel 376 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1235772782
CA369708774
378 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 380 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 382 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755440894
CA4547298
383 S>C No ClinGen
ExAC
gnomAD
CA369708811
rs1378083870
384 A>T No ClinGen
TOPMed
CA4547299
rs778333921
385 F>L No ClinGen
ExAC
gnomAD
CA4547300
rs752259434
386 N>S No ClinGen
ExAC
gnomAD
rs758044206
CA4547301
387 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs777447474
CA168877112
388 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA168877113
rs753880174
389 A>T No ClinGen
Ensembl
CA4547305
rs79484500
394 A>G No ClinGen
ExAC
gnomAD
rs76864767
CA168877120
396 D>Y No ClinGen
Ensembl
rs780187389
CA4547327
401 R>H No ClinGen
ExAC
gnomAD
rs749259569
CA4547328
404 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772237633
CA4547329
405 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA369708970
rs1337343665
406 N>S No ClinGen
TOPMed
gnomAD
CA4547331
rs747191601
407 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 410 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs539058564
CA4547333
411 M>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 423 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 424 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 431 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547354
rs770108110
445 T>A No ClinGen
ExAC
CA369709311
rs1233861672
452 V>I No ClinGen
gnomAD
rs1225307892
CA369709323
453 F>L No ClinGen
gnomAD
rs1214199379 455 Y>* No gnomAD
CA369709339
rs1254354937
455 Y>* No ClinGen
gnomAD
CA369709341
rs1466701882
456 I>L No ClinGen
gnomAD
TCGA novel 463 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1007180929
CA168879552
464 K>N No ClinGen
Ensembl
rs973384269
CA168879559
466 Y>F No ClinGen
TOPMed
rs776344569
CA168879557
466 Y>H No ClinGen
Ensembl
TCGA novel 466 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329606353
CA369709490
476 H>P No ClinGen
gnomAD
CA369709499
rs1337802806
477 Q>R No ClinGen
gnomAD
rs762413475
CA4547376
483 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1294881290
CA369709633
494 Q>K No ClinGen
gnomAD
TCGA novel 499 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369709706
rs1340788094
504 L>V No ClinGen
gnomAD
rs1273553414
CA369709762
511 I>T No ClinGen
gnomAD
rs749545118
CA4547390
512 G>D No ClinGen
ExAC
gnomAD
rs1194452175
CA369709793
516 D>H No ClinGen
gnomAD
CA168881066
rs972329326
517 L>M No ClinGen
TOPMed
CA369709809
rs1294472208
518 N>S No ClinGen
TOPMed
rs772840982
CA4547395
522 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 526 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369709890
rs1563169853
529 E>G No ClinGen
Ensembl
CA4547399
rs759266941
530 P>H No ClinGen
ExAC
gnomAD
rs776376224
CA4547398
530 P>S No ClinGen
ExAC
gnomAD
TCGA novel 540 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 542 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA168882202
rs17855577
550 S>F No ClinGen
Ensembl
rs151286359
CA4547422
552 T>I No ClinGen
ESP
ExAC
TOPMed
TCGA novel 552 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 553 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369272126
CA168882761
561 R>H No ClinGen
ESP
rs767552872
CA4547440
567 T>I No ClinGen
ExAC
gnomAD
rs982169904
CA369710202
571 A>P No ClinGen
gnomAD
rs982169904
CA168882826
571 A>S No ClinGen
gnomAD
rs1211952562
CA369710216
573 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs142906551
CA4547442
573 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765252536
CA4547444
577 R>* No ClinGen
ExAC
gnomAD
COSM1087027
rs758702023
CA4547445
580 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 581 W>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547447
rs752032968
581 W>* No ClinGen
ExAC
gnomAD
rs200852688
CA168882894
588 G>A No ClinGen
1000Genomes
rs1236199581
CA369710337
591 V>I No ClinGen
TOPMed
gnomAD
rs201213491
CA168882896
592 T>P No ClinGen
ExAC
gnomAD
rs201213491
CA4547450
592 T>S No ClinGen
ExAC
gnomAD
rs1584820852
CA369710395
599 Y>H No ClinGen
Ensembl
CA369710397
rs1348238404
599 Y>S No ClinGen
gnomAD
rs1236894600
CA369710445
604 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA168885195
rs1017360209
609 A>S No ClinGen
Ensembl
rs768981099
CA4547482
610 I>V No ClinGen
ExAC
gnomAD
CA168885209
rs761975125
613 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 614 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA168885232
rs199545066
616 T>A No ClinGen
1000Genomes
CA168885238
COSM1087028
rs997347716
616 T>M Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA4547487
rs761236642
618 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 620 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547488
rs766907724
622 V>L No ClinGen
ExAC
rs754435224
CA4547490
627 D>E No ClinGen
ExAC
gnomAD
rs1315677008
CA369710620
630 Q>R No ClinGen
TOPMed
CA369710664
rs1344797871
634 D>V No ClinGen
gnomAD
CA168889517
rs1052381286
635 I>M No ClinGen
TOPMed
CA4547515
rs140378495
637 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369710792
rs1203503228
651 L>F No ClinGen
gnomAD
rs1251498342
CA369710795
652 E>Q No ClinGen
gnomAD
rs761564930
CA369710816
654 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA369710831
rs1393145921
656 A>V No ClinGen
gnomAD
rs1366801810
CA369710896
665 P>L No ClinGen
gnomAD
rs1472545470
CA369710908
667 T>N No ClinGen
TOPMed
gnomAD
rs767366101
CA4547535
669 I>T No ClinGen
ExAC
TOPMed
CA369710928
rs1451120486
670 K>I No ClinGen
gnomAD
CA4547537
rs756084602
671 L>F No ClinGen
ExAC
gnomAD
rs200674332
CA369710944
672 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA369710938
rs1428028325
672 Y>N No ClinGen
gnomAD
CA4547539
rs753835928
673 L>V No ClinGen
ExAC
gnomAD
TCGA novel 674 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781441428
CA4547564
682 V>A No ClinGen
ExAC
gnomAD
TCGA novel 685 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 691 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547567
rs780476210
693 K>R No ClinGen
ExAC
gnomAD
CA168895078
rs34787741
698 T>P No ClinGen
Ensembl
rs1159726594
CA369711165
701 K>R No ClinGen
gnomAD
rs1251072526
CA369711178
703 I>V No ClinGen
TOPMed
gnomAD
CA168895895
rs754478318
719 M>T No ClinGen
Ensembl
TCGA novel 719 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759426268
CA4547595
721 M>L No ClinGen
ExAC
gnomAD
rs1584828702
CA369711343
724 V>G No ClinGen
Ensembl
rs868117336
CA168895925
729 Q>R No ClinGen
Ensembl
CA4547598
rs762885752
COSM1448965
733 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1181287202
CA369711419
736 T>P No ClinGen
gnomAD
rs1365947639
CA369711532
751 K>R No ClinGen
gnomAD
TCGA novel 752 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765684261
CA4547624
765 V>L No ClinGen
ExAC
gnomAD
TCGA novel 768 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4547625
rs143079007
773 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA

No associated diseases with Q13616

4 regional properties for Q13616

Type Name Position InterPro Accession
domain Cullin, N-terminal 63 - 660 IPR001373
conserved_site Cullin, conserved site 732 - 759 IPR016157
domain Cullin homology domain 404 - 632 IPR016158
domain Cullin protein, neddylation domain 688 - 753 IPR019559

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cullin-RING ubiquitin ligase complex Any ubiquitin ligase complex in which the catalytic core consists of a member of the cullin family and a RING domain protein; the core is associated with one or more additional proteins that confer substrate specificity.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
Parkin-FBXW7-Cul1 ubiquitin ligase complex A ubiquitin ligase complex containing Parkin (PARK2), the F-box protein FBXW7 (also called SEL-10) and a cullin from the Cul1 subfamily; substrate specificity is conferred by the F-box protein.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
SCF ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

2 GO annotations of molecular function

Name Definition
protein-macromolecule adaptor activity The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

8 GO annotations of biological process

Name Definition
animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population.
G1/S transition of mitotic cell cycle The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
intrinsic apoptotic signaling pathway The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
protein K48-linked ubiquitination A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation.
protein monoubiquitination Addition of a single ubiquitin group to a protein.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q12018 CDC53 Cell division control protein 53 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q24311 Cul1 Cullin homolog 1 Drosophila melanogaster (Fruit fly) PR
Q13619 CUL4A Cullin-4A Homo sapiens (Human) PR
Q13620 CUL4B Cullin-4B Homo sapiens (Human) PR
P0CH31 At1g43140 Putative cullin-like protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSSTRSQNPH GLKQIGLDQI WDDLRAGIQQ VYTRQSMAKS RYMELYTHVY NYCTSVHQSN
70 80 90 100 110 120
QARGAGVPPS KSKKGQTPGG AQFVGLELYK RLKEFLKNYL TNLLKDGEDL MDESVLKFYT
130 140 150 160 170 180
QQWEDYRFSS KVLNGICAYL NRHWVRRECD EGRKGIYEIY SLALVTWRDC LFRPLNKQVT
190 200 210 220 230 240
NAVLKLIEKE RNGETINTRL ISGVVQSYVE LGLNEDDAFA KGPTLTVYKE SFESQFLADT
250 260 270 280 290 300
ERFYTRESTE FLQQNPVTEY MKKAEARLLE EQRRVQVYLH ESTQDELARK CEQVLIEKHL
310 320 330 340 350 360
EIFHTEFQNL LDADKNEDLG RMYNLVSRIQ DGLGELKKLL ETHIHNQGLA AIEKCGEAAL
370 380 390 400 410 420
NDPKMYVQTV LDVHKKYNAL VMSAFNNDAG FVAALDKACG RFINNNAVTK MAQSSSKSPE
430 440 450 460 470 480
LLARYCDSLL KKSSKNPEEA ELEDTLNQVM VVFKYIEDKD VFQKFYAKML AKRLVHQNSA
490 500 510 520 530 540
SDDAEASMIS KLKQACGFEY TSKLQRMFQD IGVSKDLNEQ FKKHLTNSEP LDLDFSIQVL
550 560 570 580 590 600
SSGSWPFQQS CTFALPSELE RSYQRFTAFY ASRHSGRKLT WLYQLSKGEL VTNCFKNRYT
610 620 630 640 650 660
LQASTFQMAI LLQYNTEDAY TVQQLTDSTQ IKMDILAQVL QILLKSKLLV LEDENANVDE
670 680 690 700 710 720
VELKPDTLIK LYLGYKNKKL RVNINVPMKT EQKQEQETTH KNIEEDRKLL IQAAIVRIMK
730 740 750 760 770
MRKVLKHQQL LGEVLTQLSS RFKPRVPVIK KCIDILIEKE YLERVDGEKD TYSYLA