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

3 structures for Q9GZU8

Entry ID Method Resolution Chain Position Source
7W59 EM 360 A X 1-254 PDB
7W5A EM 360 A X 1-254 PDB
AF-Q9GZU8-F1 Predicted AlphaFoldDB

174 variants for Q9GZU8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA8074344
rs764383917
2 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA8074341
rs770389028
5 D>G No ClinGen
ExAC
gnomAD
CA8074340
rs760094794
6 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA396023128
rs1164956183
6 D>Y No ClinGen
gnomAD
rs925698743
CA281541253
9 L>R No ClinGen
Ensembl
CA396023096
rs1438230732
11 I>V No ClinGen
TOPMed
gnomAD
rs776887226
CA8074338
14 R>K No ClinGen
ExAC
gnomAD
rs1597720822
CA396023068
15 F>V No ClinGen
Ensembl
CA396023054
rs1259343193
17 S>P No ClinGen
gnomAD
rs750543347
CA8074337
20 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1192705820
CA396023016
22 D>E No ClinGen
gnomAD
CA8074335
rs777993320
24 R>Q No ClinGen
ExAC
gnomAD
CA8074336
rs535488737
COSM971808
24 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771766544
CA396023002
25 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748040990
CA8074333
25 R>H No ClinGen
ExAC
gnomAD
CA8074334
rs771766544
25 R>S No ClinGen
ExAC
gnomAD
rs778552812
CA8074332
27 R>K No ClinGen
ExAC
gnomAD
rs754949848
CA8074331
28 R>W No ClinGen
ExAC
gnomAD
rs1469640551
CA396022978
29 Q>* No ClinGen
gnomAD
CA396022971
rs1220332816
30 E>K No ClinGen
gnomAD
rs753735386
CA8074330
31 E>K No ClinGen
ExAC
gnomAD
CA396022946
rs1203694272
33 E>Q No ClinGen
gnomAD
CA396022924
COSM1177217
rs779562242
36 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1274438311
CA396022923
36 R>Q No ClinGen
TOPMed
gnomAD
rs1238821799
CA396022891
40 D>E No ClinGen
TOPMed
CA8074328
rs755566928
41 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs886943674
CA281540566
43 E>A No ClinGen
Ensembl
rs1314894479
CA396022815
44 C>G No ClinGen
TOPMed
gnomAD
CA8074304
rs755335453
44 C>Y No ClinGen
ExAC
gnomAD
CA396022772
rs1363471289
47 E>K No ClinGen
gnomAD
rs1567419836
CA396022735
49 Y>C No ClinGen
Ensembl
rs546658164
CA8074303
51 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396022663
rs1409960923
53 S>C No ClinGen
gnomAD
CA281540557
rs931233633
54 L>Q No ClinGen
Ensembl
rs1567419632
CA396022638
55 Y>C No ClinGen
Ensembl
CA396022622
rs1475901642
56 E>G No ClinGen
TOPMed
CA396022604
rs1485325739
57 R>S No ClinGen
gnomAD
CA396022579
rs1188173350
59 Q>* No ClinGen
TOPMed
TCGA novel 60 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA281540555
rs1039747090
62 K>E No ClinGen
Ensembl
CA281540546
rs528576294
62 K>N No ClinGen
1000Genomes
rs942639690
CA281540550
62 K>R No ClinGen
Ensembl
rs1169665076
CA396022491
64 R>G No ClinGen
gnomAD
CA8074298
rs762119081
66 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs11555755
CA281540526
66 Q>R No ClinGen
Ensembl
rs774379565
CA8074295
69 Y>C No ClinGen
ExAC
gnomAD
CA396022354
rs1356681236
70 E>D No ClinGen
gnomAD
rs749152481
CA8074293
70 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396022330
rs1297815220
72 Q>E No ClinGen
TOPMed
rs775256303
CA8074292
72 Q>P No ClinGen
ExAC
gnomAD
CA8074291
rs369877166
73 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1289649512
CA396022282
74 K>R No ClinGen
TOPMed
gnomAD
CA396022286
rs1289649512
74 K>T No ClinGen
TOPMed
gnomAD
rs986876953
CA281540463
76 K>E No ClinGen
Ensembl
CA8074263
rs771898297
78 M>I No ClinGen
ExAC
gnomAD
rs371988638
CA8074264
78 M>V No ClinGen
ESP
ExAC
TOPMed
TCGA novel 79 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1442007848
CA396022107
85 D>N No ClinGen
gnomAD
CA396022102
rs1371422399
85 D>V No ClinGen
gnomAD
CA8074261
rs780589903
87 T>I No ClinGen
ExAC
gnomAD
CA8074262
rs747764245
87 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 91 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375518314
CA8074260
95 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8074259
rs781655808
95 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8074258
rs781655808
95 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1285910919
CA396022028
96 Q>P No ClinGen
TOPMed
rs1379759643
CA396022019
97 Q>R No ClinGen
TOPMed
rs757773647
CA8074257
98 E>G No ClinGen
ExAC
gnomAD
rs764131026
CA8074255
100 I>T No ClinGen
ExAC
TOPMed
CA396022002
rs1465818955
100 I>V No ClinGen
TOPMed
gnomAD
CA281540193
rs180702754
102 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1170615485
CA396021978
103 Q>* No ClinGen
gnomAD
CA396021970
rs1454473075
104 R>* No ClinGen
gnomAD
CA8074253
rs752864583
COSM275061
104 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765089690
CA8074252
106 E>D No ClinGen
ExAC
gnomAD
CA8074251
rs759183067
109 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA396021892
rs770830499
112 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs569865674
CA8074248
115 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1484731642
CA396021843
116 R>K No ClinGen
gnomAD
CA281537786
rs890162641
117 N>S No ClinGen
Ensembl
CA396020709
CA396020712
rs1386110621
118 N>K No ClinGen
gnomAD
rs1346298809
CA396020686
120 K>R No ClinGen
TOPMed
gnomAD
CA396020653
rs1161602168
122 V>F No ClinGen
TOPMed
CA8074223
rs767141143
124 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 125 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453171401
CA396020585
126 Q>R No ClinGen
TOPMed
COSM971805
rs761482807
CA8074222
129 K>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1287131015
CA396020453
132 V>A No ClinGen
TOPMed
CA396020449
rs1597658936
133 E>K No ClinGen
Ensembl
rs1473808420
CA396020360
137 T>I No ClinGen
gnomAD
TCGA novel 138 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143746498
CA8074221
CA396020328
141 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768246575
CA8074220
141 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs143746498
CA281537776
141 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748942436
CA8074219
144 K>E No ClinGen
ExAC
gnomAD
CA8074218
rs776894654
145 N>D No ClinGen
ExAC
gnomAD
rs1353921028
CA396020240
145 N>K No ClinGen
TOPMed
CA396020229
rs746174590
146 K>R No ClinGen
TOPMed
gnomAD
CA281537766
rs746174590
146 K>T No ClinGen
TOPMed
gnomAD
CA8074215
rs370469445
150 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370469445
CA8074216
150 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8074214
rs201042159
150 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1429538464
CA396020108
154 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA396020061
rs1483572383
159 H>P No ClinGen
TOPMed
rs1373925463
CA396020062
159 H>Y No ClinGen
gnomAD
CA396020044
rs1597658001
161 S>N No ClinGen
Ensembl
CA281536211
rs1038410383
163 E>G No ClinGen
Ensembl
CA8074190
rs756393274
166 N>I No ClinGen
ExAC
gnomAD
rs750295435
CA8074189
167 S>G No ClinGen
ExAC
gnomAD
CA281536195
rs200359429
168 V>A No ClinGen
1000Genomes
rs781107141
CA8074188
168 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs757294337
CA8074187
169 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8074185
rs564050683
173 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8074183
rs372644692
178 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1174575894
CA396019588
179 D>N No ClinGen
TOPMed
rs1466217467
CA396019564
182 Q>K No ClinGen
TOPMed
rs1352899164
CA396019218
184 P>T No ClinGen
gnomAD
rs377190829
CA8074169
185 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8074168
rs777831024
188 K>N No ClinGen
ExAC
gnomAD
CA8074167
rs758251659
190 L>F No ClinGen
ExAC
gnomAD
CA396019102
rs1597537374
192 N>T No ClinGen
Ensembl
CA396019089
rs1597537320
193 T>P No ClinGen
Ensembl
rs1597537200
CA396019053
195 L>R No ClinGen
Ensembl
CA8074163
rs374828952
196 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200333306
CA8074162
CA396019022
196 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396019002
rs762305303
197 G>A No ClinGen
ExAC
gnomAD
CA8074161
rs762305303
197 G>D No ClinGen
ExAC
gnomAD
rs1467325545
COSM435420
CA396018985
198 P>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs774568604
CA8074160
198 P>S No ClinGen
ExAC
gnomAD
CA396018981
rs1597536679
199 S>P No ClinGen
Ensembl
rs763341398
CA8074158
200 I>M No ClinGen
ExAC
gnomAD
CA8074159
rs769256035
200 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA396018932
rs1354008835
202 C>R No ClinGen
TOPMed
rs1282138583
CA396018855
206 A>T No ClinGen
TOPMed
gnomAD
CA396018821
rs1260464725
208 C>Y No ClinGen
gnomAD
CA396018813
rs1209759183
209 I>V No ClinGen
TOPMed
gnomAD
CA281531726
rs867281910
210 G>D No ClinGen
Ensembl
CA8074154
rs776923728
210 G>S No ClinGen
ExAC
gnomAD
CA8074153
rs771049188
211 I>V No ClinGen
ExAC
gnomAD
CA396018766
rs1380692286
215 L>V No ClinGen
gnomAD
CA396018761
rs1361562031
216 G>S No ClinGen
gnomAD
CA8074150
rs758399641
217 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1435559772
CA396018744
218 Y>F No ClinGen
TOPMed
gnomAD
CA8074149
rs570931234
219 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA396018738
rs1390632236
219 S>T No ClinGen
TOPMed
gnomAD
rs754426999
CA8074147
220 G>R No ClinGen
ExAC
gnomAD
rs1284667717
CA396018683
223 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1247050011
CA396018656
225 E>K No ClinGen
gnomAD
CA396018626
rs1223060883
227 S>G No ClinGen
TOPMed
rs1597534811
CA396018605
228 S>L No ClinGen
Ensembl
TCGA novel 229 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8074144
rs755700823
229 D>G No ClinGen
ExAC
gnomAD
rs1213586579
CA396018565
231 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA281531683
rs370700301
232 G>A No ClinGen
ESP
TOPMed
CA8074142
rs764328745
234 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1476550709
CA396018505
235 N>S No ClinGen
TOPMed
rs763543191
CA8074141
236 A>V No ClinGen
ExAC
gnomAD
CA8074138
rs759752010
238 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs776836330
CA8074137
240 I>V No ClinGen
ExAC
gnomAD
CA8074135
rs747167334
243 S>T No ClinGen
ExAC
gnomAD
rs1294718522
CA396018357
246 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1460017504
CA396018355
246 R>P No ClinGen
gnomAD
rs1165506913
CA396018352
247 T>A No ClinGen
TOPMed
rs554043068
CA281531630
247 T>N No ClinGen
Ensembl
rs771715346
CA8074133
248 N>H No ClinGen
ExAC
gnomAD
rs751404485
CA8074132
248 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1393603140
CA396018340
249 T>A No ClinGen
TOPMed
gnomAD
CA8074131
rs778889751
249 T>I No ClinGen
ExAC
gnomAD
CA396018324
rs1301750285
251 L>H No ClinGen
TOPMed
CA8074128
rs779401733
252 E>K No ClinGen
ExAC
gnomAD
CA396018312
rs1275491750
253 A>G No ClinGen
gnomAD
CA396018314
rs1480345420
253 A>S No ClinGen
gnomAD
rs1275491750
CA396018313
253 A>V No ClinGen
gnomAD
rs755824856
CA8074127
254 P>A No ClinGen
ExAC
gnomAD

No associated diseases with Q9GZU8

1 regional properties for Q9GZU8

Type Name Position InterPro Accession
domain FAM192A/Fyv6, N-terminal 15 - 116 IPR019331

Functions

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

1 GO annotations of cellular component

Name Definition
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
negative regulation of proteasomal protein catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process.
negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MDGGDDGNLI IKKRFVSEAE LDERRKRRQE EWEKVRKPED PEECPEEVYD PRSLYERLQE
70 80 90 100 110 120
QKDRKQQEYE EQFKFKNMVR GLDEDETNFL DEVSRQQELI EKQRREEELK ELKEYRNNLK
130 140 150 160 170 180
KVGISQENKK EVEKKLTVKP IETKNKFSQA KLLAGAVKHK SSESGNSVKR LKPDPEPDDK
190 200 210 220 230 240
NQEPSSCKSL GNTSLSGPSI HCPSAAVCIG ILPGLGAYSG SSDSESSSDS EGTINATGKI
250
VSSIFRTNTF LEAP