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 Q6ZMU5

Entry ID Method Resolution Chain Position Source
3KB5 X-ray 150 A A 278-470 PDB
7XT2 X-ray 300 A A/B 1-477 PDB
7Y4S EM 350 A A/B 1-477 PDB
AF-Q6ZMU5-F1 Predicted AlphaFoldDB

477 variants for Q6ZMU5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1428902806
CA395692770
3 A>T No ClinGen
TOPMed
gnomAD
rs941438425
CA395692794
4 A>E No ClinGen
gnomAD
rs941438425
CA280625175
4 A>V No ClinGen
gnomAD
rs1040297827
CA280625180
5 P>S No ClinGen
TOPMed
CA395692849
rs772186103
6 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8024645
rs772186103
6 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8024646
rs775366554
7 L>P No ClinGen
ExAC
gnomAD
rs1306014013
CA395692918
9 H>L No ClinGen
TOPMed
rs760852942
CA8024647
9 H>Q No ClinGen
ExAC
gnomAD
rs1277881435
CA395692961
11 E>* No ClinGen
gnomAD
CA395693032
rs1440608019
13 S>P No ClinGen
gnomAD
rs764074408
CA8024648
14 C>* No ClinGen
ExAC
gnomAD
rs1389658626
CA395693095
15 P>L No ClinGen
TOPMed
rs1471942388
CA395693141
17 C>* No ClinGen
gnomAD
CA395693199
rs1478601345
20 L>R No ClinGen
TOPMed
gnomAD
rs1400750879
CA395693226
22 D>N No ClinGen
gnomAD
rs1412150352
CA395693257
23 A>P No ClinGen
TOPMed
gnomAD
rs1412150352
CA395693251
23 A>T No ClinGen
TOPMed
gnomAD
CA395693292
rs1370032300
24 P>L No ClinGen
gnomAD
rs758057099
CA8024653
25 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs766066140
CA8024654
26 T>A No ClinGen
ExAC
gnomAD
CA395693361
rs1233770552
29 C>G No ClinGen
gnomAD
CA395693363
rs1596935972
29 C>Y No ClinGen
Ensembl
TCGA novel 30 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216265557
CA395693390
31 H>N No ClinGen
TOPMed
gnomAD
CA395693458
rs1421441263
34 C>S No ClinGen
TOPMed
CA8024657
rs754511013
35 R>C No ClinGen
ExAC
gnomAD
rs1482477323
CA395693487
35 R>H No ClinGen
gnomAD
CA8024658
rs778219100
36 A>S No ClinGen
ExAC
gnomAD
TCGA novel 36 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1451796095
CA395693504
36 A>V No ClinGen
gnomAD
rs1020005582
CA280625362
37 C>R No ClinGen
TOPMed
rs757602634
CA8024660
37 C>S No ClinGen
ExAC
gnomAD
rs779211761
CA8024661
38 L>P No ClinGen
ExAC
gnomAD
rs746246758
CA8024662
40 R>S No ClinGen
ExAC
gnomAD
rs1325044807
CA395693607
42 A>T No ClinGen
gnomAD
CA395693623
rs772128235
43 G>R No ClinGen
ExAC
gnomAD
CA8024663
rs772128235
43 G>W No ClinGen
ExAC
gnomAD
CA395693646
rs1366221016
44 E>A No ClinGen
gnomAD
CA395693643
rs1165525481
44 E>K No ClinGen
TOPMed
gnomAD
rs1329151033
CA395693687
46 A>V No ClinGen
gnomAD
CA8024665
rs747047326
48 D>G No ClinGen
ExAC
gnomAD
CA395693707
rs1298327069
48 D>H No ClinGen
gnomAD
rs1356384611
CA395693886
57 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8024668
rs776690440
58 A>T No ClinGen
ExAC
CA395693927
rs1264755347
58 A>V No ClinGen
TOPMed
gnomAD
CA8024670
rs769631711
59 P>S No ClinGen
ExAC
gnomAD
rs769631711
CA395693936
59 P>T No ClinGen
ExAC
gnomAD
CA280625407
rs1017497201
60 T>K No ClinGen
TOPMed
gnomAD
TCGA novel 60 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395693994
rs1336233016
61 R>Q No ClinGen
TOPMed
CA395694001
rs1369133305
62 P>S No ClinGen
gnomAD
CA8024671
rs377300213
65 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs762825035
CA8024672
66 S>I No ClinGen
ExAC
gnomAD
CA395694158
rs1458658565
67 T>A No ClinGen
gnomAD
CA280625431
rs979874959
69 L>M No ClinGen
TOPMed
gnomAD
rs1432848023
CA395694257
72 A>V No ClinGen
TOPMed
gnomAD
CA280625436
rs1032425121
73 R>H No ClinGen
TOPMed
gnomAD
CA395694274
rs1032425121
73 R>L No ClinGen
TOPMed
gnomAD
CA395694299
rs1263379428
75 V>E No ClinGen
TOPMed
gnomAD
CA395694338
rs1208912989
77 G>E No ClinGen
gnomAD
CA280625438
rs958559598
77 G>W No ClinGen
Ensembl
CA280625443
rs993164751
78 L>M No ClinGen
TOPMed
gnomAD
rs549168444
CA8024675
80 Q>L No ClinGen
1000Genomes
ExAC
gnomAD
rs767071126
CA8024676
82 P>R No ClinGen
ExAC
gnomAD
CA395694462
rs1260557342
83 Q>L No ClinGen
TOPMed
CA395694475
rs1423388645
84 G>S No ClinGen
gnomAD
rs1425316077
CA395694525
86 C>Y No ClinGen
gnomAD
CA395694543
rs1489115430
87 E>Q No ClinGen
TOPMed
CA395694638
rs1567492479
90 L>V No ClinGen
Ensembl
rs1357162624
CA395694732
92 P>L No ClinGen
TOPMed
rs1473052320
CA395694780
94 S>I No ClinGen
TOPMed
gnomAD
rs779489515
CA8024679
95 I>M No ClinGen
ExAC
gnomAD
rs567360429
CA8024678
95 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1679044
rs567360429
CA280625495
COSM1679043
95 I>S haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1245564849
CA395694802
95 I>V No ClinGen
TOPMed
CA395694823
rs1455390231
96 Y>C No ClinGen
gnomAD
rs780109162
CA8024682
97 C>* No ClinGen
ExAC
gnomAD
CA8024681
rs750705473
97 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA8024680
rs750705473
97 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs1361652864
CA395694874
98 E>G No ClinGen
TOPMed
CA395694887
rs1394986685
99 Q>R No ClinGen
gnomAD
CA8024683
rs747286617
101 R>G No ClinGen
ExAC
gnomAD
rs781493336
CA8024685
101 R>L No ClinGen
ExAC
gnomAD
rs747286617
CA8024684
101 R>S No ClinGen
ExAC
gnomAD
CA395694976
rs1228631787
102 A>V No ClinGen
gnomAD
CA280625536
rs949548449
104 V>A No ClinGen
TOPMed
rs769565638
CA8024687
104 V>M No ClinGen
ExAC
gnomAD
CA8024688
rs773228834
105 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs926893076
CA395695059
106 G>E No ClinGen
TOPMed
gnomAD
CA8024689
rs762622415
106 G>R No ClinGen
ExAC
gnomAD
CA280625570
rs926893076
106 G>V No ClinGen
TOPMed
gnomAD
CA395695076
rs1252788789
107 V>M No ClinGen
gnomAD
rs941699631
CA280625580
109 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1181742784
CA395695215
110 S>L No ClinGen
gnomAD
CA395695257
rs1471525096
112 G>A No ClinGen
gnomAD
rs1037813604
CA280625617
112 G>R No ClinGen
TOPMed
gnomAD
rs1177930934
CA395695276
113 S>W No ClinGen
TOPMed
gnomAD
CA8024693
rs767161211
114 H>Q No ClinGen
ExAC
gnomAD
rs1221422076
CA395695317
115 R>C No ClinGen
TOPMed
CA280625649
rs897493166
116 G>D No ClinGen
TOPMed
CA8024694
rs752143235
117 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760255630
CA8024696
118 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8024697
rs750980692
118 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs760255630
CA8024695
118 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs758668680
CA8024698
120 L>M No ClinGen
ExAC
gnomAD
rs766910598
CA8024699
121 P>T No ClinGen
ExAC
gnomAD
rs1596936306
CA395695484
122 A>D No ClinGen
Ensembl
rs1311932071
CA395695593
125 A>T No ClinGen
gnomAD
CA8024702
rs755188223
126 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA280625708
rs890264579
127 A>S No ClinGen
TOPMed
rs890264579
CA395695642
127 A>T No ClinGen
TOPMed
rs199876193
CA8024703
128 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395695673
rs1352142797
128 R>H No ClinGen
TOPMed
CA8024704
rs200603153
129 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs934135318
CA280625723
129 L>R No ClinGen
TOPMed
rs1243621524
CA395698409
132 Q>* No ClinGen
TOPMed
gnomAD
TCGA novel 134 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531394387
CA8024796
137 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs769061768
CA395698540
139 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs769061768
CA8024797
139 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA8024798
rs776916600
140 L>V No ClinGen
ExAC
gnomAD
rs1485190692
CA395698576
141 Q>* No ClinGen
gnomAD
CA395698582
rs1202658958
141 Q>R No ClinGen
gnomAD
CA395698609
rs1441852379
143 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8024800
rs748528190
144 C>F No ClinGen
ExAC
gnomAD
rs1186145703
CA395698639
144 C>R No ClinGen
gnomAD
rs748528190
CA8024799
144 C>S No ClinGen
ExAC
gnomAD
rs1056294548
CA280628276
145 M>T No ClinGen
gnomAD
rs773457022
CA8024801
146 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201191466
CA8024802
COSM1737065
COSM1737064
146 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA280628278
rs773457022
146 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs774337718
CA8024804
149 K>N No ClinGen
ExAC
gnomAD
TCGA novel 151 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149024766
CA8024806
151 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8024807
rs752489122
153 V>G No ClinGen
ExAC
CA395698818
rs1394911284
153 V>M No ClinGen
gnomAD
CA280628319
rs939740670
156 H>R No ClinGen
TOPMed
rs553295367
CA8024809
159 V>G No ClinGen
ExAC
gnomAD
rs756003981
CA8024808
159 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA395698964
rs1596939640
161 V>G No ClinGen
Ensembl
rs1424530652
CA395698951
161 V>M No ClinGen
TOPMed
rs756793233
CA280628508
163 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs759681780
CA8024824
164 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs143098996
CA8024825
165 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1460787138
CA395699050
165 V>M No ClinGen
TOPMed
CA8024826
rs374969194
166 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8024828
rs201331213
166 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395699075
rs201331213
166 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8024827
rs374969194
166 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8024830
rs761306791
167 Q>H No ClinGen
ExAC
gnomAD
CA8024829
rs753537137
167 Q>L No ClinGen
ExAC
gnomAD
CA395699125
rs1191595581
169 R>Q No ClinGen
gnomAD
CA8024832
COSM1230418
rs148214926
COSM1230419
169 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
TCGA novel 171 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8024834
COSM1179768
COSM1179769
rs757959915
172 V>M prostate [Cosmic] No ClinGen
cosmic curated
ExAC
CA280628571
rs939072859
173 G>A No ClinGen
TOPMed
rs939072859
CA395699173
173 G>E No ClinGen
TOPMed
CA395699182
rs756462500
174 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA8024837
rs756462500
174 E>K No ClinGen
ExAC
TOPMed
gnomAD
COSM557727
CA8024839
COSM557726
rs749674647
177 G>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771007987
CA8024840
180 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745904502
CA8024842
180 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771007987
CA8024841
180 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395699348
rs1596939838
181 V>G No ClinGen
Ensembl
rs775555008
CA8024844
181 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA395699342
rs775555008
181 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA395699412
rs1567494055
184 A>P No ClinGen
Ensembl
rs1596939849
CA395699426
185 A>P No ClinGen
Ensembl
CA395699435
rs1596939854
185 A>V No ClinGen
Ensembl
rs768721119
CA8024846
186 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395699473
rs761692670
188 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs761692670
CA8024848
188 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA8024847
rs776233456
188 G>S No ClinGen
ExAC
gnomAD
CA8024849
rs115885262
RCV000955511
192 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA395699545
rs115885262
192 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs191800804
CA8024851
192 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8024850
rs115885262
192 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395699588
rs1166804246
193 E>D No ClinGen
TOPMed
rs756675094
CA8024854
193 E>K No ClinGen
ExAC
gnomAD
rs778233584
CA8024855
194 A>V No ClinGen
ExAC
gnomAD
CA280628670
rs117857886
195 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395699610
rs1431783321
195 E>Q No ClinGen
TOPMed
rs757603858
CA8024857
196 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs745643982
CA280628671
196 R>H No ClinGen
TOPMed
gnomAD
rs555872534
CA8024858
197 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs200796476
CA8024860
198 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8024861
rs144116136
198 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200796476
CA8024859
198 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768760420
CA8024863
199 G>D No ClinGen
ExAC
gnomAD
CA280628688
rs74575362
200 E>G No ClinGen
Ensembl
rs776598239
CA8024864
203 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395699781
rs1596939972
203 V>G No ClinGen
Ensembl
CA395699773
rs776598239
203 V>I No ClinGen
ExAC
gnomAD
CA8024867
rs769578887
204 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA8024866
rs769578887
204 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766005593
CA8024869
206 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8024870
rs766005593
206 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA395699853
rs780638717
206 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8024871
rs780638717
206 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8024874
rs572271373
207 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8024873
rs369542040
207 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 208 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750748445
CA8024876
210 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1182145743
CA395700029
211 S>N No ClinGen
gnomAD
rs1371274198
CA395700063
212 L>R No ClinGen
TOPMed
rs780399664
CA8024878
214 S>A No ClinGen
ExAC
gnomAD
rs1312295541
CA719951218
215 Y>* No ClinGen
TOPMed
CA8024882
rs781011212
220 R>Q No ClinGen
ExAC
gnomAD
CA8024881
rs374279718
220 R>W No ClinGen
ESP
ExAC
TOPMed
rs748055741
CA8024883
221 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA8024884
rs769618706
222 M>I No ClinGen
ExAC
gnomAD
rs1469998012
CA395700418
222 M>R No ClinGen
TOPMed
CA395700411
rs1596940076
222 M>V No ClinGen
Ensembl
CA395700461
rs1596940090
223 E>G No ClinGen
Ensembl
CA395700451
rs1361024396
223 E>K No ClinGen
gnomAD
rs773120703
CA8024885
224 K>M No ClinGen
ExAC
gnomAD
CA395700547
rs1596940102
225 V>G No ClinGen
Ensembl
rs1410185144
CA395700518
225 V>L No ClinGen
TOPMed
CA280628799
rs867053659
227 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8024886
rs749063759
229 V>G No ClinGen
ExAC
CA395700635
rs1312538377
229 V>M No ClinGen
gnomAD
rs139612395
CA8024888
230 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139612395
CA8024887
230 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8024891
rs200975523
231 D>E No ClinGen
ExAC
gnomAD
CA8024890
rs766996531
231 D>N No ClinGen
ExAC
CA8024893
rs201571350
233 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395700795
rs201571350
233 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs939123654
CA280628855
233 P>S No ClinGen
Ensembl
rs1567494182
CA395700898
237 F>C No ClinGen
Ensembl
rs758802409
CA8024895
237 F>L No ClinGen
ExAC
gnomAD
rs766735832
CA395700926
239 M>L No ClinGen
ExAC
gnomAD
CA395700937
rs1210944047
239 M>T No ClinGen
TOPMed
gnomAD
CA8024896
rs766735832
239 M>V No ClinGen
ExAC
gnomAD
rs1037370861
CA280630007
241 Y>C No ClinGen
gnomAD
rs1409209161
CA395702128
245 T>A No ClinGen
gnomAD
rs1326631528
CA395702140
245 T>I No ClinGen
gnomAD
TCGA novel 246 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280630061
rs142710131
247 R>K No ClinGen
ESP
TOPMed
gnomAD
CA280630051
rs900140660
247 R>W No ClinGen
gnomAD
rs1314377489
CA395702565
249 Q>R No ClinGen
gnomAD
TCGA novel 250 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8024945
rs779776298
253 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs368945748
CA8024947
254 E>D No ClinGen
ESP
ExAC
TOPMed
CA395702673
rs1458727559
254 E>K No ClinGen
TOPMed
CA8024948
rs754536847
256 P>A No ClinGen
ExAC
gnomAD
TCGA novel 257 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780912615
CA8024949
257 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8024950
rs780912615
257 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8024951
rs780912615
257 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs911724963
CA280631388
258 P>H No ClinGen
TOPMed
CA8024952
rs774961699
258 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA280631387
rs774961699
258 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA395702791
rs1485483447
259 A>D No ClinGen
gnomAD
CA8024955
COSM185258
rs775787122
COSM185259
259 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM970165
rs1185990761
COSM970166
CA395702822
260 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8024956
rs151006683
260 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395702848
rs764288374
262 D>N No ClinGen
ExAC
gnomAD
CA8024957
rs764288374
262 D>Y No ClinGen
ExAC
gnomAD
rs1488672638
CA395702961
267 I>V No ClinGen
TOPMed
CA395703003
rs1451062037
268 I>V No ClinGen
gnomAD
rs1250715432
CA395703087
269 S>L No ClinGen
TOPMed
CA8024959
rs562867534
270 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA395703106
rs1375479846
270 D>Y No ClinGen
gnomAD
rs1310636468
CA395703135
271 D>N No ClinGen
gnomAD
rs750277758
CA8024961
272 F>L No ClinGen
ExAC
gnomAD
CA395703229
rs1306975214
274 F>L No ClinGen
gnomAD
CA280631468
rs868381885
275 Q>* No ClinGen
Ensembl
CA280631473
rs1045551590
280 M>V No ClinGen
Ensembl
rs1236013003
CA395703450
CA395703452
281 F>L No ClinGen
TOPMed
gnomAD
rs1320107533
CA395703436
281 F>S No ClinGen
TOPMed
rs140739096
CA8024963
282 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA280631481
rs887056269
282 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA280631486
rs939947094
285 M>I No ClinGen
Ensembl
CA280631513
rs1038375589
287 A>T No ClinGen
gnomAD
rs1156785619
CA395704692
287 A>V No ClinGen
TOPMed
CA395704743
rs1471150496
290 E>K No ClinGen
TOPMed
rs773204133
CA8024980
291 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8024982
rs150087468
292 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs534421116
CA395704895
295 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA395704914
rs1371759585
295 P>L No ClinGen
gnomAD
CA8024984
rs534421116
295 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs754784371
CA8024985
296 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395704984
rs1394365990
296 S>R No ClinGen
TOPMed
gnomAD
rs767302913
CA8024987
297 S>F No ClinGen
ExAC
rs1596943327
CA395705037
299 H>P No ClinGen
Ensembl
CA395705109
rs755691030
300 P>L No ClinGen
ExAC
gnomAD
CA8024989
rs755691030
300 P>R No ClinGen
ExAC
gnomAD
rs752343664
CA8024988
300 P>S No ClinGen
ExAC
gnomAD
TCGA novel 305 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395705351
rs1273526288
306 S>C No ClinGen
gnomAD
TCGA novel 306 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866681890
CA280632702
308 G>S No ClinGen
Ensembl
rs758879061
CA8024993
309 R>C No ClinGen
ExAC
gnomAD
rs368859412
CA280632709
309 R>H No ClinGen
gnomAD
rs758879061
CA8024994
309 R>S No ClinGen
ExAC
gnomAD
rs1019552922
CA280632712
310 R>G No ClinGen
gnomAD
rs1185637569
CA395705456
310 R>H No ClinGen
gnomAD
CA395705442
rs1019552922
310 R>S No ClinGen
gnomAD
rs1284100831
CA395705467
311 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA395705476
rs1195696274
312 E>Q No ClinGen
gnomAD
rs141229511
CA8024996
313 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166136120
CA395705555
314 S>* No ClinGen
gnomAD
rs1166136120
CA395705565
314 S>W No ClinGen
gnomAD
rs773058167
CA280632745
315 E>Q No ClinGen
gnomAD
CA8024999
rs571127764
319 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8025000
rs773218230
320 P>L No ClinGen
ExAC
gnomAD
CA395705741
rs1287383801
321 A>T No ClinGen
TOPMed
gnomAD
rs1003218502
CA280632792
321 A>V No ClinGen
TOPMed
gnomAD
CA395705779
rs1354517530
322 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395705766
rs1293682315
CA395705764
322 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1354517530
CA395705785
322 G>V No ClinGen
gnomAD
CA280632810
rs112486041
323 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA280632824
rs936743874
324 D>E No ClinGen
gnomAD
CA280632846
rs989532506
326 R>S No ClinGen
Ensembl
COSM225042
CA395705949
COSM225041
rs1317028548
327 Q>* Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs763062275
CA395705971
329 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs763062275
CA8025001
329 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs375401025
CA8025004
331 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 331 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8025003
rs774300796
331 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 333 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199815688
CA8025007
CA8025006
335 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 336 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280632878
rs369457250
337 H>Q No ClinGen
ESP
gnomAD
rs1400584459
CA395706260
337 H>Y No ClinGen
gnomAD
rs201970764
CA280632879
338 Q>E No ClinGen
1000Genomes
gnomAD
CA8025008
rs763780493
339 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA395706422
rs1442714325
341 S>Y No ClinGen
gnomAD
rs1373999972
CA395706484
344 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395706483
rs1373999972
344 E>Q No ClinGen
gnomAD
rs1223108582
CA395706522
345 H>R No ClinGen
gnomAD
CA395706574
rs1306467317
347 W>R No ClinGen
gnomAD
CA280632911
rs1046980046
348 E>A No ClinGen
Ensembl
CA395706589
rs1303628124
348 E>K No ClinGen
TOPMed
gnomAD
rs1372224005
CA395706616
349 V>M No ClinGen
gnomAD
rs1349344355
CA395706706
350 D>N No ClinGen
gnomAD
CA280632912
rs765642505
351 V>F No ClinGen
gnomAD
CA395706731
rs765642505
351 V>I No ClinGen
gnomAD
rs1207089367
CA395706796
353 D>G No ClinGen
gnomAD
rs752003573
CA8025013
353 D>Y No ClinGen
ExAC
gnomAD
rs1353657027
CA395706870
355 P>L No ClinGen
TOPMed
CA8025014
rs755338073
356 R>C No ClinGen
ExAC
gnomAD
rs781600735
CA8025015
356 R>H No ClinGen
ExAC
gnomAD
CA395706890
rs781600735
356 R>L No ClinGen
ExAC
gnomAD
rs1254783583
CA395706969
359 L>M No ClinGen
gnomAD
rs1339491076
CA395707033
361 V>E No ClinGen
TOPMed
rs1397026037
CA395707019
361 V>M No ClinGen
TOPMed
gnomAD
CA395707050
rs1567495928
362 I>T No ClinGen
Ensembl
CA8025018
rs778019966
363 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA395707109
rs1330679793
365 E>K No ClinGen
TOPMed
gnomAD
rs1196879675
CA395707137
366 A>P No ClinGen
gnomAD
CA280632958
rs908054101
366 A>V No ClinGen
TOPMed
CA280632982
rs896786892
367 P>L No ClinGen
TOPMed
gnomAD
CA280632981
rs1036695116
367 P>S No ClinGen
TOPMed
gnomAD
rs749353531
CA280632985
368 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA395707189
rs1234344465
368 R>P No ClinGen
gnomAD
COSM4129021
CA8025019
rs749353531
COSM4129020
368 R>S thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA395707243
rs1302301016
370 G>E No ClinGen
gnomAD
CA395707239
rs1456479883
370 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395707284
rs1342476792
371 R>C No ClinGen
gnomAD
CA395707290
rs1215892505
371 R>H No ClinGen
gnomAD
rs760372032
CA395707323
373 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs760372032
CA8025020
373 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8025021
rs774438318
374 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA395707342
rs1197371146
374 A>S No ClinGen
gnomAD
CA395707359
rs774438318
374 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA280633028
rs889516572
375 V>A No ClinGen
TOPMed
gnomAD
TCGA novel 378 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395707423
rs1316696566
378 Q>L No ClinGen
TOPMed
CA8025022
rs770390611
379 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA395707596
rs1384246333
385 L>V No ClinGen
Ensembl
rs922138735
CA280633036
386 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA395707667
rs1420037120
388 G>D No ClinGen
gnomAD
CA395707658
rs1274090807
388 G>S No ClinGen
TOPMed
rs565529736
CA280633039
390 I>S No ClinGen
Ensembl
rs1409152342
CA395707775
392 E>A No ClinGen
TOPMed
gnomAD
rs1441494900
CA395707882
395 V>A No ClinGen
gnomAD
CA395707876
rs1446168459
395 V>L No ClinGen
TOPMed
TCGA novel 395 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395707885
rs1328791124
396 E>K No ClinGen
TOPMed
gnomAD
CA395707887
rs1328791124
396 E>Q No ClinGen
TOPMed
gnomAD
CA395707943
rs1054155250
398 K>R No ClinGen
TOPMed
gnomAD
CA280633043
rs1054155250
398 K>T No ClinGen
TOPMed
gnomAD
rs1217157136
CA395707995
399 E>D No ClinGen
gnomAD
rs1339179097
CA395707986
399 E>G No ClinGen
gnomAD
CA395708033
rs1336153790
400 P>Q No ClinGen
gnomAD
rs760488562
CA8025025
400 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1319773067
CA395708062
401 R>L No ClinGen
Ensembl
rs1448803842
CA395708064
402 A>T No ClinGen
TOPMed
gnomAD
rs1194249329
CA395708113
404 R>C No ClinGen
gnomAD
rs1241713679
CA395708223
406 P>S No ClinGen
gnomAD
rs1191267964
CA395708253
407 E>* No ClinGen
gnomAD
TCGA novel 407 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395708268
rs1462524687
408 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 408 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395708295
rs1419672259
409 R>W No ClinGen
gnomAD
rs1326178389
CA395708337
411 T>A No ClinGen
TOPMed
gnomAD
CA8025029
rs753481207
412 R>C No ClinGen
ExAC
gnomAD
rs1326474252
CA395708393
412 R>L No ClinGen
Ensembl
CA8025030
rs761241218
413 I>L No ClinGen
ExAC
gnomAD
rs1401903150
CA395708426
414 G>C No ClinGen
gnomAD
rs1393209259
CA395708428
414 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 414 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397706801
CA395708476
416 Y>F No ClinGen
gnomAD
CA8025032
rs749928208
417 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs868424182
CA280633123
417 L>P No ClinGen
Ensembl
CA280633134
rs866527463
418 S>R No ClinGen
Ensembl
CA395708543
rs1239264378
420 G>A No ClinGen
TOPMed
rs767985630
CA8025034
420 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs753097453
CA8025036
421 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA395708559
rs1352988351
421 D>G No ClinGen
gnomAD
CA395708572
rs777875525
422 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs777875525
CA8025037
422 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs757419145
CA8025039
423 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA395708590
rs757419145
423 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8025040
rs779193788
424 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA280633185
rs779193788
424 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs779193788
CA8025041
424 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1475407963
CA395708629
425 S>A No ClinGen
gnomAD
CA280633199
rs372751574
425 S>F No ClinGen
ESP
TOPMed
rs372751574
CA280633195
425 S>Y No ClinGen
ESP
TOPMed
rs1438452095
CA395708643
426 F>L No ClinGen
TOPMed
CA8025043
rs373379714
427 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1470153983
CA395708687
428 D>E No ClinGen
TOPMed
TCGA novel 428 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395708702
rs1158672388
429 A>D No ClinGen
TOPMed
gnomAD
CA395708752
rs1417501127
431 D>E No ClinGen
TOPMed
gnomAD
CA395708720
rs1567496211
431 D>N No ClinGen
Ensembl
rs1314317870
CA395708764
432 A>D No ClinGen
gnomAD
rs1314317870
CA395708774
432 A>V No ClinGen
gnomAD
CA395708785
rs1395781107
433 D>N No ClinGen
gnomAD
CA8025044
rs775530190
434 A>P No ClinGen
ExAC
gnomAD
rs775530190
CA395708811
434 A>T No ClinGen
ExAC
gnomAD
TCGA novel 436 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395708855
rs1281267789
437 P>L No ClinGen
TOPMed
gnomAD
CA8025047
rs776184212
437 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA395708960
rs1376279067
442 H>R No ClinGen
TOPMed
CA395708966
rs1253768290
443 E>K No ClinGen
TOPMed
gnomAD
CA8025049
rs540011147
444 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763394921
CA280633280
444 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs763394921
CA280633281
444 R>L No ClinGen
TOPMed
gnomAD
rs1437272238
CA395709032
447 R>W No ClinGen
gnomAD
CA280633308
rs774706835
449 V>M No ClinGen
gnomAD
CA395709094
rs1257736020
451 P>L No ClinGen
TOPMed
rs1399010832
CA395709124
453 F>V No ClinGen
gnomAD
CA8025053
rs768038436
454 D>N No ClinGen
ExAC
gnomAD
rs1374811767
CA395709162
455 V>M No ClinGen
gnomAD
rs865851823
CA280633389
456 C>* No ClinGen
gnomAD
CA395709199
rs865851823
456 C>W No ClinGen
gnomAD
CA8025055
rs756443702
457 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756443702
CA395709211
457 W>C No ClinGen
ExAC
gnomAD
CA395709208
rs1347465972
457 W>S No ClinGen
TOPMed
gnomAD
rs764589997
CA8025056
458 H>N No ClinGen
ExAC
rs1254046163
CA395709223
458 H>R No ClinGen
gnomAD
rs1196380044
CA395709262
460 K>E No ClinGen
gnomAD
rs1237461682
CA395709294
461 G>S No ClinGen
gnomAD
rs1456108372
CA395709350
464 A>P No ClinGen
gnomAD
rs866967489
CA280633398
464 A>V No ClinGen
Ensembl
CA8025057
rs754140169
465 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA395709377
rs1253042363
465 Q>L No ClinGen
gnomAD
CA280633401
rs889577918
466 P>L No ClinGen
gnomAD
CA395709432
rs1263643847
469 L>F No ClinGen
gnomAD
CA8025058
rs532226963
469 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA8025060
rs544541955
470 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA395709450
rs544541955
470 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8025061
rs758502754
471 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs758502754
CA280633485
471 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs758502754
CA280633480
471 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8025063
rs746896769
473 E>D No ClinGen
ExAC
gnomAD
rs1326666235
CA395709488
473 E>G No ClinGen
gnomAD
rs1289982121
CA395709500
474 G>D No ClinGen
TOPMed
CA395709506
rs1297992366
475 A>S No ClinGen
gnomAD
rs1257140829
CA395709524
476 E>G No ClinGen
gnomAD
CA395709542
rs1462536894
477 A>D No ClinGen
TOPMed
rs1316026147
CA395709565
478 A>C No ClinGen
gnomAD
rs1567496394
CA395709550
478 A>R No ClinGen
Ensembl

No associated diseases with Q6ZMU5

2 regional properties for Q6ZMU5

Type Name Position InterPro Accession
domain Protein kinase domain 12 - 291 IPR000719
active_site Serine/threonine-protein kinase, active site 129 - 141 IPR008271

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane, sarcolemma
  • Cytoplasmic vesicle membrane
  • Tethered to plasma membrane and cytoplasmic vesicles via its interaction with phosphatidylserine
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle.
sarcolemma The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.

5 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
phosphatidylserine binding Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
ubiquitin conjugating enzyme binding Binding to a ubiquitin conjugating enzyme, any of the E2 proteins.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name Definition
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers.
negative regulation of insulin receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling.
negative regulation of insulin-like growth factor receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of insulin-like growth factor receptor signaling.
negative regulation of myotube differentiation Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.
plasma membrane repair The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress.
proteasome-mediated 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, and mediated by the proteasome.
protein homooligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.

49 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9G4 TRIM10 Tripartite motif-containing protein 10 Bos taurus (Bovine) PR
Q2T9Z0 TRIM17 E3 ubiquitin-protein ligase TRIM17 Bos taurus (Bovine) PR
E1BJS7 TRIM71 E3 ubiquitin-protein ligase TRIM71 Bos taurus (Bovine) PR
Q7YRV4 TRIM21 E3 ubiquitin-protein ligase TRIM21 Bos taurus (Bovine) PR
Q1PRL4 TRIM71 E3 ubiquitin-protein ligase TRIM71 Gallus gallus (Chicken) PR
Q7YR32 TRIM10 Tripartite motif-containing protein 10 Pan troglodytes (Chimpanzee) PR
Q9BTV5 FSD1 Fibronectin type III and SPRY domain-containing protein 1 Homo sapiens (Human) PR
Q9UJV3 MID2 Probable E3 ubiquitin-protein ligase MID2 Homo sapiens (Human) PR
P29590 PML Protein PML Homo sapiens (Human) PR
Q9NQ86 TRIM36 E3 ubiquitin-protein ligase TRIM36 Homo sapiens (Human) PR
Q86UV6 TRIM74 Tripartite motif-containing protein 74 Homo sapiens (Human) PR
Q2Q1W2 TRIM71 E3 ubiquitin-protein ligase TRIM71 Homo sapiens (Human) PR
Q9BXM9 FSD1L FSD1-like protein Homo sapiens (Human) PR
Q9H2S5 RNF39 RING finger protein 39 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q9BZY9 TRIM31 E3 ubiquitin-protein ligase TRIM31 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
A6NCK2 TRIM43B Tripartite motif-containing protein 43B Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
Q14142 TRIM14 Tripartite motif-containing protein 14 Homo sapiens (Human) PR
A6NK02 TRIM75 Tripartite motif-containing protein 75 Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
Q9WUH5 Trim10 Tripartite motif-containing protein 10 Mus musculus (Mouse) PR
Q8BZT2 Sh3rf2 E3 ubiquitin-protein ligase SH3RF2 Mus musculus (Mouse) PR
Q7TPM3 Trim17 E3 ubiquitin-protein ligase TRIM17 Mus musculus (Mouse) PR
Q60953 Pml Protein PML Mus musculus (Mouse) PR
Q9JJ26 Mefv Pyrin Mus musculus (Mouse) SS
Q99PQ1 Trim12a Tripartite motif-containing protein 12A Mus musculus (Mouse) PR
Q61510 Trim25 E3 ubiquitin/ISG15 ligase TRIM25 Mus musculus (Mouse) PR
Q810I2 Trim50 E3 ubiquitin-protein ligase TRIM50 Mus musculus (Mouse) PR
Q1PSW8 Trim71 E3 ubiquitin-protein ligase TRIM71 Mus musculus (Mouse) PR
Q3TL54 Trim43a Tripartite motif-containing protein 43A Mus musculus (Mouse) PR
P86449 Trim43c Tripartite motif-containing protein 43C Mus musculus (Mouse) PR
Q1XH17 Trim72 Tripartite motif-containing protein 72 Mus musculus (Mouse) PR
O77666 TRIM26 Tripartite motif-containing protein 26 Sus scrofa (Pig) PR
O19085 TRIM10 Tripartite motif-containing protein 10 Sus scrofa (Pig) PR
Q865W2 TRIM50 E3 ubiquitin-protein ligase TRIM50 Sus scrofa (Pig) PR
Q920M2 Rnf39 RING finger protein 39 Rattus norvegicus (Rat) PR
Q9JJ25 Mefv Pyrin Rattus norvegicus (Rat) SS
Q810I1 Trim50 E3 ubiquitin-protein ligase TRIM50 Rattus norvegicus (Rat) PR
D3ZVM4 Trim71 E3 ubiquitin-protein ligase TRIM71 Rattus norvegicus (Rat) PR
A0JPQ4 Trim72 Tripartite motif-containing protein 72 Rattus norvegicus (Rat) PR
F6QEU4 trim71 E3 ubiquitin-protein ligase TRIM71 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q640S6 trim72 Tripartite motif-containing protein 72 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
E7FAM5 trim71 E3 ubiquitin-protein ligase TRIM71 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSAAPGLLHQ ELSCPLCLQL FDAPVTAECG HSFCRACLGR VAGEPAADGT VLCPCCQAPT
70 80 90 100 110 120
RPQALSTNLQ LARLVEGLAQ VPQGHCEEHL DPLSIYCEQD RALVCGVCAS LGSHRGHRLL
130 140 150 160 170 180
PAAEAHARLK TQLPQQKLQL QEACMRKEKS VAVLEHQLVE VEETVRQFRG AVGEQLGKMR
190 200 210 220 230 240
VFLAALEGSL DREAERVRGE AGVALRRELG SLNSYLEQLR QMEKVLEEVA DKPQTEFLMK
250 260 270 280 290 300
YCLVTSRLQK ILAESPPPAR LDIQLPIISD DFKFQVWRKM FRALMPALEE LTFDPSSAHP
310 320 330 340 350 360
SLVVSSSGRR VECSEQKAPP AGEDPRQFDK AVAVVAHQQL SEGEHYWEVD VGDKPRWALG
370 380 390 400 410 420
VIAAEAPRRG RLHAVPSQGL WLLGLREGKI LEAHVEAKEP RALRSPERRP TRIGLYLSFG
430 440 450 460 470
DGVLSFYDAS DADALVPLFA FHERLPRPVY PFFDVCWHDK GKNAQPLLLV GPEGAEA