Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9GZU0

Entry ID Method Resolution Chain Position Source
AF-Q9GZU0-F1 Predicted AlphaFoldDB

131 variants for Q9GZU0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs778734904
CA3658739
4 P>S No ClinGen
ExAC
gnomAD
rs754899580
CA3658738
5 N>D No ClinGen
ExAC
gnomAD
rs1424550165
CA362989733
5 N>T No ClinGen
gnomAD
CA3658737
rs140541841
6 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1362709940
CA362989628
9 K>T No ClinGen
TOPMed
gnomAD
rs767225153
CA362989598
11 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs767225153
CA3658733
11 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3658732
rs147608879
12 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1488565763
CA362989504
16 R>C No ClinGen
gnomAD
CA362989474
rs1335776849
17 A>S No ClinGen
TOPMed
rs1338197292
CA362989444
18 Q>* No ClinGen
TOPMed
rs1446577985
CA362989296
22 K>R No ClinGen
TOPMed
CA362989219
rs1348548232
25 S>A No ClinGen
gnomAD
TCGA novel 25 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1328650110
CA362988938
35 Y>N No ClinGen
gnomAD
CA3658726
rs766197948
37 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs200345046
CA362988863
39 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs200345046
CA3658725
39 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA3658724
rs772288076
40 F>L No ClinGen
ExAC
gnomAD
TCGA novel 42 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 45 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3658696
rs756082764
46 K>N No ClinGen
ExAC
gnomAD
CA362988043
rs1462652990
55 V>I No ClinGen
gnomAD
CA136182439
rs200360611
56 I>V No ClinGen
Ensembl
CA3658695
rs148471432
57 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3658694
rs376277860
60 T>A No ClinGen
ESP
ExAC
gnomAD
rs768745962
CA136182420
60 T>K No ClinGen
Ensembl
TCGA novel 69 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362987922
rs1285373048
69 K>T No ClinGen
gnomAD
rs777223686
CA3658691
70 G>D No ClinGen
ExAC
gnomAD
CA362987894
rs1581399460
72 R>Q No ClinGen
Ensembl
rs1409224468
CA362987877
73 D>E No ClinGen
gnomAD
CA362987889
rs1355965191
73 D>N No ClinGen
gnomAD
rs1326591804
CA362987885
73 D>V No ClinGen
gnomAD
rs754153171
CA3658689
78 L>S No ClinGen
ExAC
gnomAD
TCGA novel 79 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3658688
rs766901820
80 S>G No ClinGen
ExAC
gnomAD
CA136182391
rs368449457
80 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368449457
CA3658687
80 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1183112799
CA362987744
82 L>V No ClinGen
gnomAD
CA3658686
rs750547527
86 Q>R No ClinGen
ExAC
gnomAD
rs1180105363
CA362987640
87 K>N No ClinGen
gnomAD
rs1386901358
CA362987604
89 V>G No ClinGen
TOPMed
rs1225309945
CA362987537
94 A>S No ClinGen
gnomAD
COSM3430372
COSM3430371
CA136182343
rs957447903
96 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1375063401
CA362987449
98 Q>H No ClinGen
TOPMed
gnomAD
rs907073316
CA136182312
98 Q>R No ClinGen
TOPMed
rs1277336825
CA362987422
99 S>C No ClinGen
gnomAD
CA362987393
rs1331420012
100 M>T No ClinGen
gnomAD
TCGA novel 104 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764420342
CA3658653
107 C>G No ClinGen
ExAC
gnomAD
CA362986186
rs1487153492
108 T>I No ClinGen
gnomAD
CA362986139
rs1239827431
110 E>A No ClinGen
TOPMed
gnomAD
rs1239827431
CA362986140
110 E>G No ClinGen
TOPMed
gnomAD
CA362986131
rs1214519614
111 M>V No ClinGen
gnomAD
CA3658651
rs775483537
112 D>G No ClinGen
ExAC
gnomAD
CA3658652
rs763245732
112 D>N No ClinGen
ExAC
gnomAD
CA3658650
rs565112775
113 F>C No ClinGen
1000Genomes
ExAC
gnomAD
CA362986075
rs1322495041
114 I>F No ClinGen
gnomAD
VAR_050803
CA136180608
rs34238213
116 W>C No ClinGen
UniProt
Ensembl
dbSNP
rs776643289
CA3658648
119 N>H No ClinGen
ExAC
gnomAD
rs1302389468
CA362986039
119 N>S No ClinGen
TOPMed
CA3658646
rs746559542
123 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 124 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866963179
CA136180582
125 V>F No ClinGen
TOPMed
rs866963179
CA362985998
125 V>I No ClinGen
TOPMed
rs1167237437
CA362985983
127 L>F No ClinGen
gnomAD
CA362985962
COSM1471895
rs1220898270
130 S>C Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA136180532
rs528364778
133 K>E No ClinGen
1000Genomes
rs1291576276
CA362985941
133 K>R No ClinGen
TOPMed
CA3658641
rs756472666
134 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA362985926
rs1430786153
135 S>C No ClinGen
gnomAD
CA136180521
rs112053740
136 D>G No ClinGen
Ensembl
CA362985904
rs1418064750
138 P>L No ClinGen
gnomAD
CA136180510
rs35050510
VAR_050804
140 R>S No ClinGen
UniProt
Ensembl
dbSNP
rs746172712
CA3658640
142 V>L No ClinGen
ExAC
gnomAD
rs1244463356
CA362985877
143 Q>E No ClinGen
gnomAD
CA3658619
rs757841054
144 A>T No ClinGen
ExAC
gnomAD
CA3658617
rs539000261
149 H>L No ClinGen
1000Genomes
ExAC
gnomAD
rs758568134
CA3658616
150 H>R No ClinGen
ExAC
gnomAD
CA362984823
rs1193896578
154 E>Q No ClinGen
TOPMed
CA136175984
rs975242756
155 K>N No ClinGen
Ensembl
CA3658614
rs765585506
159 H>Y No ClinGen
ExAC
gnomAD
CA362984626
rs1476795410
161 L>P No ClinGen
TOPMed
rs369129269
CA3658613
162 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201980135
CA3658612
163 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA136175979
rs866438646
163 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 166 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362984418
rs1266770394
168 G>A No ClinGen
gnomAD
rs760728809
CA3658610
169 I>M No ClinGen
ExAC
gnomAD
rs1025565949
CA136175958
170 V>I No ClinGen
Ensembl
CA136175952
rs200156457
171 V>A No ClinGen
1000Genomes
rs1261411022 171 V>missing Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No NCI-TCGA
CA136175955
rs1052112552
171 V>I No ClinGen
TOPMed
gnomAD
rs1241409729
CA362984301
172 N>S No ClinGen
gnomAD
CA3658609
rs773024231
176 Q>E No ClinGen
ExAC
gnomAD
rs767382141
CA3658608
182 I>T No ClinGen
ExAC
gnomAD
rs761346606
CA3658607
183 D>N No ClinGen
ExAC
CA3658606
rs773822775
184 R>T No ClinGen
ExAC
gnomAD
rs553652359
CA136175916
185 Q>E No ClinGen
1000Genomes
CA3658604
rs536734991
186 H>N No ClinGen
1000Genomes
ExAC
gnomAD
CA136175884
rs1003781915
188 Q>E No ClinGen
Ensembl
rs202045794
CA3658575
190 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA3658576
rs768618881
190 P>S No ClinGen
ExAC
gnomAD
TCGA novel 192 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 192 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3658574
rs780159986
194 A>P No ClinGen
ExAC
gnomAD
CA362982879
rs780159986
194 A>T No ClinGen
ExAC
gnomAD
rs149237704
CA3658573
196 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3658572
rs781301294
200 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1447669370
CA362982763
204 L>P No ClinGen
gnomAD
CA3658567
rs752209834
205 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs764035206
CA3658568
205 Y>H No ClinGen
ExAC
gnomAD
CA3658566
rs752209834
205 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA3658564
rs759241593
210 Q>E No ClinGen
ExAC
gnomAD
rs1355410740
CA362982700
210 Q>R No ClinGen
TOPMed
rs1340671612
CA362982672
213 H>Y No ClinGen
gnomAD
CA3658562
rs772556762
215 A>V No ClinGen
ExAC
gnomAD
rs1468972642
CA362982624
216 V>A No ClinGen
TOPMed
gnomAD
CA3658561
rs145980580
218 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775008818
CA3658560
221 D>E No ClinGen
ExAC
gnomAD
CA3658559
rs372450488
223 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374287394
CA3658556
224 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374287394
CA3658558
224 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3430369
rs746089400
CA3658555
COSM3430370
224 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374287394
CA3658557
224 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3658554
rs781324865
226 Y>F No ClinGen
ExAC
rs1410392221
CA362982479
226 Y>H No ClinGen
gnomAD
rs746759888
CA3658552
227 M>T No ClinGen
ExAC
CA3658551
rs777605413
228 P>A No ClinGen
ExAC
gnomAD
rs777605413
CA362982454
228 P>T No ClinGen
ExAC
gnomAD

No associated diseases with Q9GZU0

No regional properties for Q9GZU0

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9GZU0

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q99LU8 Uncharacterized protein C6orf62 homolog Mus musculus (Mouse) PR
10 20 30 40 50 60
MGDPNSRKKQ ALNRLRAQLR KKKESLADQF DFKMYIAFVF KEKKKKSALF EVSEVIPVMT
70 80 90 100 110 120
NNYEENILKG VRDSSYSLES SLELLQKDVV QLHAPRYQSM RRDVIGCTQE MDFILWPRND
130 140 150 160 170 180
IEKIVCLLFS RWKESDEPFR PVQAKFEFHH GDYEKQFLHV LSRKDKTGIV VNNPNQSVFL
190 200 210 220
FIDRQHLQTP KNKATIFKLC SICLYLPQEQ LTHWAVGTIE DHLRPYMPE