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

4 structures for P51784

Entry ID Method Resolution Chain Position Source
4MEL X-ray 290 A A/B 67-288 PDB
5OK6 X-ray 130 A A/B 67-288 PDB
8OYP X-ray 244 A PDB
AF-P51784-F1 Predicted AlphaFoldDB

400 variants for P51784

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1368079668
CA412823669
2 A>T No ClinGen
gnomAD
CA10396701
rs768128867
3 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 3 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396703
rs752840506
4 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756219949
CA10396704
5 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1220691344
CA412823756
5 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 6 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396708
rs757466463
9 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs757466463
CA412823845
9 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA10396707
rs754052339
9 G>W No ClinGen
ExAC
gnomAD
CA329052766
rs954194242
12 C>R No ClinGen
Ensembl
rs1260064004
CA412824044
18 Q>K No ClinGen
gnomAD
rs150564617
CA10396710
22 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745561174
CA10396709
22 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA10396711
rs139596785
23 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412824147
rs1569233332
23 A>P No ClinGen
Ensembl
rs779901952
CA10396712
24 V>G No ClinGen
ExAC
CA412824157
rs1472734723
24 V>I No ClinGen
gnomAD
rs367543384
CA329052793
25 E>K No ClinGen
gnomAD
rs746555658
CA10396713
26 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1003392081
CA329052825
31 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA329052827
rs371419131
33 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10396715
rs776184063
33 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs371419131
CA10396716
33 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412824361
rs1354932792
36 G>A No ClinGen
gnomAD
CA412824359
rs1354932792
36 G>D No ClinGen
gnomAD
rs149757747
CA10396717
37 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412824412
rs1292654403
39 R>K No ClinGen
gnomAD
CA10396718
rs774640027
39 R>S No ClinGen
ExAC
gnomAD
rs759925085
CA10396719
40 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10396720
rs772734666
40 E>V No ClinGen
ExAC
gnomAD
CA412824465
rs1489449092
41 R>L No ClinGen
gnomAD
rs201561406
CA10396721
42 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA329052881
rs868143684
43 A>E No ClinGen
TOPMed
rs1413882961
CA412824561
46 T>A No ClinGen
gnomAD
CA10396724
rs200473032
46 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169513843
CA412824583
47 V>G No ClinGen
TOPMed
gnomAD
CA10396727
rs750188009
49 A>V No ClinGen
ExAC
CA329052905
rs985953642
50 N>H No ClinGen
TOPMed
rs758150431
CA329052916
51 P>A No ClinGen
ExAC
CA10396729
rs779991733
51 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758150431
CA10396728
51 P>S No ClinGen
ExAC
TCGA novel 52 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412824702
rs1164807288
52 A>P No ClinGen
TOPMed
CA412824734
rs1423691689
53 A>V No ClinGen
TOPMed
CA412824750
rs1188427178
55 A>T No ClinGen
TOPMed
TCGA novel 55 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412824797
rs1569233400
57 A>V No ClinGen
Ensembl
rs1413145751
CA412824813
58 V>A No ClinGen
gnomAD
rs751547246
CA10396733
61 A>V No ClinGen
ExAC
gnomAD
CA10396734
rs754879437
64 V>A No ClinGen
ExAC
gnomAD
CA412824931
rs1280049464
65 T>A No ClinGen
gnomAD
rs1211759656
CA412824991
68 R>K No ClinGen
gnomAD
rs747684938
CA10396736
69 E>Q No ClinGen
ExAC
gnomAD
CA412825034
rs1469137375
70 P>L No ClinGen
gnomAD
rs777419861
CA10396738
73 E>G No ClinGen
ExAC
gnomAD
rs1382020433
CA412825094
73 E>K No ClinGen
gnomAD
rs201098564
CA10396739
74 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10396740
rs772611974
75 L>V No ClinGen
ExAC
gnomAD
rs1336353225
CA412825198
77 G>S No ClinGen
gnomAD
rs1359851197
CA412825229
79 D>A No ClinGen
gnomAD
rs1221437284
CA412825250
80 S>G No ClinGen
TOPMed
rs1329927293
CA412825320
83 R>C No ClinGen
gnomAD
rs867773327
CA329052966
83 R>H No ClinGen
Ensembl
rs867773327
CA412825325
83 R>L No ClinGen
Ensembl
rs1379839750
CA412825414
88 G>S No ClinGen
gnomAD
rs1303182693
CA412825437
89 E>Q No ClinGen
gnomAD
rs749048718
CA10396742
93 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412825583
rs1278838723
95 P>L No ClinGen
gnomAD
CA329052975
rs868190084
97 R>W No ClinGen
gnomAD
CA412825692
rs1201750581
101 S>N No ClinGen
gnomAD
rs183062376
CA10396750
CA10396749
105 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751355044
CA10396751
106 E>K No ClinGen
ExAC
gnomAD
CA412828040
rs1292448130
111 K>E No ClinGen
TOPMed
CA412828173
rs1213029108
119 G>R No ClinGen
gnomAD
rs754970499
CA10396752
122 Q>R No ClinGen
ExAC
gnomAD
rs1453129074
CA412828272
125 S>C No ClinGen
gnomAD
CA412828279
rs1199382105
125 S>N No ClinGen
gnomAD
rs1241304902
CA412828415
133 N>S No ClinGen
gnomAD
rs752156277
CA10396754
138 Q>K No ClinGen
ExAC
gnomAD
rs372652752
CA10396773
140 E>K No ClinGen
ESP
ExAC
gnomAD
CA10396775
rs755971100
144 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA412828594
rs1310007314
147 E>K No ClinGen
gnomAD
CA10396777
rs753381678
153 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412828669
rs1245460091
155 Y>C No ClinGen
gnomAD
TCGA novel 166 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412608043
CA412828893
173 E>Q No ClinGen
gnomAD
CA10396778
rs756982370
174 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1218445580
CA412828928
175 G>D No ClinGen
gnomAD
rs1435416122
CA412828984
179 I>T No ClinGen
TOPMed
CA10396779
rs778641852
181 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1488776194
CA412829010
181 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1201169481
CA412829129
186 L>M No ClinGen
gnomAD
CA412829142
rs1456856893
187 P>S No ClinGen
gnomAD
CA412829284
rs1569235047
193 E>D No ClinGen
Ensembl
CA412829324
rs1432927940
196 P>S No ClinGen
gnomAD
rs764064233
CA10396795
203 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412829408
rs1173522282
203 R>W No ClinGen
gnomAD
rs1349290091
CA412829441
205 N>S No ClinGen
TOPMed
gnomAD
rs1349290091
CA412829439
205 N>T No ClinGen
TOPMed
gnomAD
CA329059694
rs887899845
206 D>N No ClinGen
TOPMed
rs1466219251
CA412829489
208 G>S No ClinGen
TOPMed
gnomAD
CA10396796
rs753402265
210 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs756785886
CA10396797
212 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10396798
rs376804631
214 Q>E No ClinGen
ESP
ExAC
gnomAD
CA10396799
rs750140418
214 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1023999001
CA329059717
217 H>L No ClinGen
TOPMed
TCGA novel 220 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781669097
CA10396801
220 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 220 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396802
rs748448971
221 I>V No ClinGen
ExAC
gnomAD
CA10396819
rs753113285
225 L>S No ClinGen
ExAC
gnomAD
rs756435652
CA10396820
226 R>C No ClinGen
ExAC
gnomAD
rs778278623
CA10396821
226 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs778278623
CA412829755
226 R>L No ClinGen
ExAC
gnomAD
rs1412412114
CA412829780
229 R>L No ClinGen
TOPMed
gnomAD
CA412829779
rs1412412114
229 R>Q No ClinGen
TOPMed
gnomAD
CA412829783
rs1395491251
230 E>K No ClinGen
gnomAD
CA10396823
rs757753624
231 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754380001
CA10396822
231 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779105283
CA10396824
234 V>A No ClinGen
ExAC
CA10396825
rs745874247
235 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 236 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 240 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412829887
rs1602710290
240 T>P No ClinGen
Ensembl
CA10396827
rs780096892
241 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 244 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412829976
rs1382798239
249 G>A No ClinGen
gnomAD
CA412830002
rs1352795597
252 D>Y No ClinGen
TOPMed
rs1278961980
CA412830037
255 Y>C No ClinGen
gnomAD
CA412830059
rs1378498421
257 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1378498421
CA412830057
257 T>S No ClinGen
TOPMed
gnomAD
rs776537536
CA10396830
258 H>Y No ClinGen
ExAC
rs761908448
CA10396831
259 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs769843018
CA10396832
260 T>M Variant assessed as Somatic; 0.0001252 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412830104
rs1174572088
262 L>V No ClinGen
TOPMed
rs762306205
CA10396834
263 D>G No ClinGen
ExAC
gnomAD
rs751127253
CA10396836
264 A>T No ClinGen
ExAC
gnomAD
CA10396837
rs759169838
264 A>V No ClinGen
ExAC
gnomAD
CA412830154
rs1319217238
267 E>V No ClinGen
gnomAD
rs376801006
CA10396839
268 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412830202
rs1176677668
272 I>V No ClinGen
gnomAD
rs1440029971
CA412830231
276 T>S No ClinGen
gnomAD
CA10396853
rs772985298
277 R>C No ClinGen
ExAC
gnomAD
CA329060214
rs896459831
277 R>H No ClinGen
TOPMed
rs767470264
CA10396856
285 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA329060253
COSM267732
rs1001120579
286 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA10396858
rs754333247
288 L>M No ClinGen
ExAC
gnomAD
rs1449474691
CA412830318
289 H>Y No ClinGen
gnomAD
CA412830361
rs1438198197
293 N>D No ClinGen
gnomAD
rs773861302
CA10396876
293 N>S No ClinGen
ExAC
gnomAD
CA412830371
rs1602710703
294 N>I No ClinGen
Ensembl
COSM1121767
rs369208947
CA10396877
296 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771741124
CA10396878
299 D>Y No ClinGen
ExAC
gnomAD
rs775072824
CA10396879
303 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1209145748
CA412830439
303 K>R No ClinGen
gnomAD
CA412830505
rs1292601240
313 N>S No ClinGen
TOPMed
CA412830528
rs1210928995
317 T>A No ClinGen
TOPMed
CA412830570
rs1224053620
322 S>* No ClinGen
gnomAD
TCGA novel 322 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779507275
CA10396896
329 N>S No ClinGen
ExAC
gnomAD
TCGA novel 335 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396898
rs768342225
342 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 345 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396900
rs773462135
345 E>D No ClinGen
ExAC
gnomAD
rs1316206055
CA412830768
348 F>L No ClinGen
TOPMed
CA10396902
rs774953438
349 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs760100765
CA10396903
349 R>H No ClinGen
ExAC
gnomAD
CA10396905
rs752824063
353 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs760817613
CA10396906
354 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs764305951
CA10396908
358 I>M No ClinGen
ExAC
gnomAD
CA329060731
rs867182050
358 I>V No ClinGen
Ensembl
CA329060756
rs1028586583
360 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 364 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 369 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396910
rs778654765
375 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10396911
rs750398962
375 R>H No ClinGen
ExAC
gnomAD
rs1569235559
CA412831014
376 S>C No ClinGen
Ensembl
rs201567985
CA10396912
380 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10396941
rs776013676
386 V>I No ClinGen
ExAC
gnomAD
TCGA novel 400 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169886175
CA412831314
401 S>C No ClinGen
gnomAD
TCGA novel 408 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140600622
CA10396946
418 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10396947
rs772996331
419 V>L No ClinGen
ExAC
gnomAD
TCGA novel 423 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316643680
CA412831607
426 E>Q No ClinGen
gnomAD
CA10396948
rs762697251
429 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 430 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396949
rs202046049
431 A>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 435 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10396952
rs767125530
436 Q>P No ClinGen
ExAC
gnomAD
rs1413055463
CA412832424
439 A>T No ClinGen
gnomAD
TCGA novel
CA329061210
rs867366494
443 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs767303942
CA10396972
448 R>W No ClinGen
ExAC
gnomAD
rs752282546
CA10396973
449 R>Q No ClinGen
ExAC
gnomAD
rs6609463
CA329061215
COSM189772
449 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs753582181
CA10396976
463 K>E No ClinGen
ExAC
gnomAD
rs756963826
CA10396977
463 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA10396981
rs781511382
473 N>S No ClinGen
ExAC
gnomAD
rs113465400
CA329061245
479 D>N No ClinGen
Ensembl
CA329061250
rs866378438
487 P>L No ClinGen
Ensembl
COSM360608
CA10396983
rs368273184
490 I>V lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA412832786
rs1185296821
492 H>L No ClinGen
gnomAD
TCGA novel 494 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777801380
CA412832799
494 R>K No ClinGen
ExAC
gnomAD
rs777801380
CA10396984
494 R>T No ClinGen
ExAC
gnomAD
CA412832855
rs1178269512
502 P>S No ClinGen
gnomAD
TCGA novel 504 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412832890
rs1402657679
507 R>C No ClinGen
gnomAD
rs774213603
CA10396987
507 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs867955965
CA329061341
513 R>Q No ClinGen
Ensembl
rs1569235913
CA412832943
513 R>W No ClinGen
Ensembl
rs113846960
CA10397005
515 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs775414059
CA10397007
522 I>M No ClinGen
ExAC
gnomAD
rs141092127
CA329061375
523 S>L No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs141092127
CA10397008
523 S>W No ClinGen
1000Genomes
ESP
ExAC
gnomAD
TCGA novel 527 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761179924
CA10397011
533 T>K No ClinGen
ExAC
gnomAD
CA412833148
rs761179924
533 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 534 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1468123
rs956435731
CA329061418
536 S>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1432032641
CA412833240
540 M>V No ClinGen
TOPMed
rs1480181127
CA412833346
549 R>C No ClinGen
TOPMed
TCGA novel 549 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412833450
rs1227600364
558 E>K No ClinGen
gnomAD
rs1278058705
CA412833467
559 P>L No ClinGen
TOPMed
gnomAD
rs769763813
CA10397029
562 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA329061562
rs994429677
563 I>T No ClinGen
TOPMed
CA412833529
rs1269738235
566 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA412833553
rs1272037468
568 D>G No ClinGen
TOPMed
TCGA novel 568 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761835243 570 F>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA329061852
rs954026696
577 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10397048
rs781017998
577 R>H No ClinGen
ExAC
gnomAD
TCGA novel 579 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748093134
CA10397049
580 A>V No ClinGen
ExAC
gnomAD
rs769763897
CA10397050
581 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA412833748
rs373083048
583 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10397051
rs373083048
583 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 584 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1462182043
CA412833804
588 I>V No ClinGen
TOPMed
CA329061856
rs909707545
589 V>M No ClinGen
TOPMed
TCGA novel 595 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1290239581
CA412833934
598 T>N No ClinGen
gnomAD
CA10397054
rs146934622
601 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371405317
CA10397055
601 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239698401
CA412834020
604 N>Y No ClinGen
TOPMed
rs1569236292
CA412834044
605 N>S No ClinGen
Ensembl
rs1203588046
CA412834084
607 Y>S No ClinGen
gnomAD
CA412834103
rs1246386032
608 Y>C No ClinGen
TOPMed
rs765719583
CA10397061
609 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 610 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 623 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329061920
rs939293473
623 R>W No ClinGen
TOPMed
CA412834317
rs1416964590
625 R>C No ClinGen
gnomAD
rs1157335115
CA412834318
625 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1183487137
CA412834326
626 F>V No ClinGen
gnomAD
TCGA novel 633 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173623159
CA412834410
634 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1470223282
COSM1231954
CA412834456
638 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA10397069
rs756015873
638 R>W No ClinGen
ExAC
CA10397094
rs779717265
641 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 650 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 650 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10397116
rs771583694
659 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA10397117
rs774955743
660 D>V No ClinGen
ExAC
gnomAD
CA329062444
rs772183853
661 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 665 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1011717148
CA329062445
666 D>N No ClinGen
gnomAD
rs1011717148
CA412835323
666 D>Y No ClinGen
gnomAD
rs369798008
CA10397121
667 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387390069
CA412835351
668 P>L No ClinGen
gnomAD
rs1406142716
CA412835354
669 G>R No ClinGen
gnomAD
rs776434411
CA412835377
672 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1343453814
CA412835380
672 T>N No ClinGen
gnomAD
CA10397123
rs776434411
672 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs761558957
CA10397124
673 G>E No ClinGen
ExAC
gnomAD
CA10397125
rs764986424
675 S>N No ClinGen
ExAC
gnomAD
rs750410978
CA10397126
676 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10397127
rs775998394
677 R>* No ClinGen
1000Genomes
ExAC
gnomAD
CA412835447
rs1396392067
679 P>A No ClinGen
gnomAD
CA10397128
rs765980035
679 P>L No ClinGen
ExAC
gnomAD
rs1304271469
CA412835516
686 P>S No ClinGen
gnomAD
TCGA novel 689 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149631565
RCV000885367
CA10397131
690 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10397132
rs551222235
691 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1339755065
CA412835578
691 T>S No ClinGen
TOPMed
CA10397134
rs779395925
695 P>S No ClinGen
ExAC
rs373698431
CA10397135
696 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 699 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10397139
rs768899509
708 P>L No ClinGen
ExAC
gnomAD
rs1405887078
CA412835768
708 P>T No ClinGen
gnomAD
TCGA novel 711 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775646209
CA10397141
712 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412835825
rs1417404458
713 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1468669616
CA412835827
713 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA412835875
rs1458890129
718 T>N No ClinGen
TOPMed
TCGA novel 721 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412836004
rs1223922759
730 R>H No ClinGen
gnomAD
rs1186405256
CA412836012
732 T>A No ClinGen
TOPMed
TCGA novel 732 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1482982454
CA412836020
733 S>C No ClinGen
Ensembl
CA329062531
rs113679905
733 S>P No ClinGen
Ensembl
rs113679905
CA329062526
733 S>T No ClinGen
Ensembl
CA412836024
rs1263996984
734 P>R No ClinGen
TOPMed
rs150790639
CA329062534
734 P>S No ClinGen
ESP
TCGA novel 736 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748434379
CA10397159
741 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA412836097
rs1343044760
743 I>V No ClinGen
gnomAD
TCGA novel 748 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs951524369
CA329062585
750 E>G No ClinGen
Ensembl
CA412836174
rs1212655922
753 K>R No ClinGen
gnomAD
rs768809646
CA10397165
754 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA412836208
rs1489863607
758 E>Q No ClinGen
gnomAD
rs377442049
CA10397168
759 V>I No ClinGen
ESP
ExAC
gnomAD
rs1183350909
CA412836258
763 G>A No ClinGen
gnomAD
CA10397184
rs376719457
770 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 771 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373954740
CA329062757
772 Y>C No ClinGen
ESP
COSM403895
CA412836324
rs1389270745
773 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs569469982
CA10397187
775 K>Q No ClinGen
ExAC
gnomAD
rs1380914479
CA412836366
779 V>M No ClinGen
TOPMed
gnomAD
rs377241469
CA10397189
780 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412836373
rs1247196906
780 R>W No ClinGen
gnomAD
CA10397191
rs781395709
784 C>* No ClinGen
1000Genomes
ExAC
gnomAD
rs1306664968
CA412836400
784 C>Y No ClinGen
TOPMed
TCGA novel 795 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1462395391
CA412836495
798 N>D No ClinGen
TOPMed
gnomAD
rs752803321
CA10397194
798 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 799 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780580051
CA10397225
806 K>R No ClinGen
ExAC
gnomAD
rs747642820
CA10397226
807 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 818 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329063897
rs61760201
819 M>L No ClinGen
Ensembl
rs1274943699
CA412836672
821 P>L No ClinGen
TOPMed
COSM462225
rs1371082239
CA412836689
824 L>V cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA329063924
rs113748630
826 I>S No ClinGen
Ensembl
rs1371259211
CA412836751
833 Y>S No ClinGen
gnomAD
CA10397237
rs750732800
834 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs758689897
CA412836765
835 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs758689897
CA10397238
835 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1171048867
CA412836855
848 P>L No ClinGen
gnomAD
rs369588851
CA412836856
849 I>L No ClinGen
ESP
ExAC
TOPMed
CA10397241
rs369588851
849 I>V No ClinGen
ESP
ExAC
TOPMed
TCGA novel 850 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412836863
rs781142598
850 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10397254
rs773359273
853 D>E No ClinGen
ExAC
gnomAD
rs10126669
CA412836906
854 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412836928
rs1314288453
857 F>L No ClinGen
gnomAD
rs1602717060
CA412836942
860 Q>K No ClinGen
Ensembl
rs766658033
CA10397256
862 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs200769176
CA10397258
865 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10397257
rs751339862
865 S>T No ClinGen
ExAC
gnomAD
CA412836993
rs1411702081
867 P>A No ClinGen
TOPMed
CA10397259
COSM150784
rs140077263
867 P>L Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140077263
CA329064045
867 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA329064059
rs143742824
869 L>M No ClinGen
ESP
TOPMed
gnomAD
CA329064086
rs959559374
874 L>I No ClinGen
TOPMed
rs1158467706
CA412837074
876 A>T No ClinGen
gnomAD
CA412837120
rs1192004851
880 H>P No ClinGen
gnomAD
CA412837177
rs1183417765
885 R>C No ClinGen
TOPMed
CA10397283
rs772171910
894 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778277255
CA10397284
898 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1282624316
CA412837364
899 G>D Variant assessed as Somatic; 6.247e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10397285
rs745604815
900 Q>R No ClinGen
ExAC
gnomAD
CA10397287
rs781630707
907 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1320220876
CA412837492
909 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1406651362
CA412837554
914 E>D No ClinGen
TOPMed
rs886293201
CA329064314
915 N>S No ClinGen
TOPMed
gnomAD
rs1475890818
CA412837590
918 E>G No ClinGen
TOPMed
rs142646366
CA10397291
918 E>K No ClinGen
ESP
ExAC
gnomAD
TCGA novel 921 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412837686
rs1469888498
923 Y>H No ClinGen
TOPMed
rs775741228
CA10397319
928 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs760876517
CA10397320
929 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1446896971
CA412838045
931 D>V No ClinGen
gnomAD
rs776347977
CA10397322
932 V>M No ClinGen
ExAC
gnomAD
rs1465096594
CA412838065
933 A>V No ClinGen
gnomAD
CA412838069
rs1366220290
934 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765036191
CA10397324
934 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412838076
rs1163328387
935 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM379507
rs749981096
CA10397325
935 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA412838081
rs749981096
935 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1049090890
CA329064580
938 S>Y No ClinGen
TOPMed
rs1322333856
CA412838109
939 P>L No ClinGen
gnomAD
rs1322333856
CA412838105
939 P>Q No ClinGen
gnomAD
rs377378154
CA10397328
941 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754673785
CA10397329
943 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 944 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412838156
rs1448334466
945 A>T No ClinGen
TOPMed
gnomAD
CA412838191
rs1389873275
948 S>F No ClinGen
TOPMed
rs1602717889
CA412838187
948 S>P No ClinGen
Ensembl
rs374191188
CA329064620
949 P>S No ClinGen
ESP
gnomAD
rs757802231
CA10397332
952 S>I No ClinGen
ExAC
gnomAD
rs779246297
CA10397333
953 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1167289781
CA412838239
953 S>P No ClinGen
TOPMed
CA412838267
rs1253725668
956 S>G No ClinGen
gnomAD
rs1602717966
CA412838295
958 E>A No ClinGen
Ensembl
rs757577797
CA10397334
CA412838313
959 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

No associated diseases with P51784

3 regional properties for P51784

Type Name Position InterPro Accession
active_site Aspartic peptidase, active site 86 - 97 IPR001969
domain Aspartic peptidase, N-terminal 18 - 44 IPR012848
domain Peptidase family A1 domain 71 - 378 IPR033121

Functions

Description
EC Number 3.4.19.12 Omega peptidases
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Chromosome
  • Predominantly nuclear (PubMed:12084015, PubMed:15314155)
  • Associates with chromatin (PubMed:20233726, PubMed:20601937)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
cysteine-type deubiquitinase activity An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
cysteine-type endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.
transcription corepressor binding Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.

2 GO annotations of biological process

Name Definition
protein deubiquitination The removal of one or more ubiquitin groups from a protein.
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 a ubiquitin group, or multiple ubiquitin groups, to the protein.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Y2K6 USP20 Ubiquitin carboxyl-terminal hydrolase 20 Homo sapiens (Human) PR
P40818 USP8 Ubiquitin carboxyl-terminal hydrolase 8 Homo sapiens (Human) PR
O75604 USP2 Ubiquitin carboxyl-terminal hydrolase 2 Homo sapiens (Human) PR
Q53GS9 USP39 U4/U6.U5 tri-snRNP-associated protein 2 Homo sapiens (Human) PR
Q8R5K2 Usp33 Ubiquitin carboxyl-terminal hydrolase 33 Mus musculus (Mouse) PR
Q8R5H1 Usp15 Ubiquitin carboxyl-terminal hydrolase 15 Mus musculus (Mouse) PR
Q9SX68 RPL18 50S ribosomal protein L18, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
F6Z5C0 usp15 Ubiquitin carboxyl-terminal hydrolase 15 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MAVAPRLFGG LCFRFRDQNP EVAVEGRLPI SHSCVGCRRE RTAMATVAAN PAAAAAAVAA
70 80 90 100 110 120
AAAVTEDREP QHEELPGLDS QWRQIENGES GRERPLRAGE SWFLVEKHWY KQWEAYVQGG
130 140 150 160 170 180
DQDSSTFPGC INNATLFQDE INWRLKEGLV EGEDYVLLPA AAWHYLVSWY GLEHGQPPIE
190 200 210 220 230 240
RKVIELPNIQ KVEVYPVELL LVRHNDLGKS HTVQFSHTDS IGLVLRTARE RFLVEPQEDT
250 260 270 280 290 300
RLWAKNSEGS LDRLYDTHIT VLDAALETGQ LIIMETRKKD GTWPSAQLHV MNNNMSEEDE
310 320 330 340 350 360
DFKGQPGICG LTNLGNTCFM NSALQCLSNV PQLTEYFLNN CYLEELNFRN PLGMKGEIAE
370 380 390 400 410 420
AYADLVKQAW SGHHRSIVPH VFKNKVGHFA SQFLGYQQHD SQELLSFLLD GLHEDLNRVK
430 440 450 460 470 480
KKEYVELCDA AGRPDQEVAQ EAWQNHKRRN DSVIVDTFHG LFKSTLVCPD CGNVSVTFDP
490 500 510 520 530 540
FCYLSVPLPI SHKRVLEVFF IPMDPRRKPE QHRLVVPKKG KISDLCVALS KHTGISPERM
550 560 570 580 590 600
MVADVFSHRF YKLYQLEEPL SSILDRDDIF VYEVSGRIEA IEGSREDIVV PVYLRERTPA
610 620 630 640 650 660
RDYNNSYYGL MLFGHPLLVS VPRDRFTWEG LYNVLMYRLS RYVTKPNSDD EDDGDEKEDD
670 680 690 700 710 720
EEDKDDVPGP STGGSLRDPE PEQAGPSSGV TNRCPFLLDN CLGTSQWPPR RRRKQLFTLQ
730 740 750 760 770 780
TVNSNGTSDR TTSPEEVHAQ PYIAIDWEPE MKKRYYDEVE AEGYVKHDCV GYVMKKAPVR
790 800 810 820 830 840
LQECIELFTT VETLEKENPW YCPSCKQHQL ATKKLDLWML PEILIIHLKR FSYTKFSREK
850 860 870 880 890 900
LDTLVEFPIR DLDFSEFVIQ PQNESNPELY KYDLIAVSNH YGGMRDGHYT TFACNKDSGQ
910 920 930 940 950 960
WHYFDDNSVS PVNENQIESK AAYVLFYQRQ DVARRLLSPA GSSGAPASPA CSSPPSSEFM
DVN