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 Q8WVD3

Entry ID Method Resolution Chain Position Source
AF-Q8WVD3-F1 Predicted AlphaFoldDB

117 variants for Q8WVD3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA402255445
rs1399475410
2 A>V No ClinGen
gnomAD
CA8930616
rs768736694
3 E>A No ClinGen
ExAC
gnomAD
CA8930617
rs116403100
3 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8930615
rs768736694
3 E>G No ClinGen
ExAC
gnomAD
CA402255447
rs1289349465
3 E>K No ClinGen
TOPMed
CA402255455
rs1341861985
4 D>A No ClinGen
gnomAD
CA298319553
rs552128671
5 L>F No ClinGen
1000Genomes
TOPMed
CA402255462
rs1398614699
5 L>H No ClinGen
gnomAD
CA8930618
rs770913259
6 S>C No ClinGen
ExAC
gnomAD
rs1326281405
CA402255474
7 A>V No ClinGen
gnomAD
CA8930619
rs776550133
8 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA402255492
rs1254717414
10 S>F No ClinGen
gnomAD
rs764761557
CA8930621
11 Y>C No ClinGen
ExAC
gnomAD
rs1445480537
CA402255505
12 T>I No ClinGen
TOPMed
gnomAD
CA298319554
rs971442195
14 D>V No ClinGen
Ensembl
CA402255522
rs1262208209
15 D>H No ClinGen
gnomAD
CA8930623
rs762391892
20 V>I No ClinGen
ExAC
gnomAD
CA8930626
rs757749867
26 K>R No ClinGen
ExAC
gnomAD
CA298319556
rs927403921
27 T>R No ClinGen
gnomAD
TCGA novel 29 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8930630
rs780166210
32 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA402255635
rs780166210
32 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1193003840
CA402255645
33 A>V No ClinGen
TOPMed
TCGA novel 35 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402255661
rs1568220269
35 Q>H No ClinGen
Ensembl
CA402255654
rs1487578116
35 Q>K No ClinGen
TOPMed
CA402255658
rs1264931099
35 Q>R No ClinGen
TOPMed
rs1351514733
CA402255670
37 V>F No ClinGen
gnomAD
rs758508871
CA8930655
47 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs748204194
CA8930654
47 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8930656
rs781300995
48 R>K No ClinGen
ExAC
gnomAD
CA402255775
rs1315971206
50 S>G No ClinGen
gnomAD
rs775349440
CA8930659
51 G>R No ClinGen
ExAC
gnomAD
rs1481305138
CA402255791
52 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs768267760
CA8930661
53 H>R No ClinGen
ExAC
gnomAD
rs1422182371
CA402255829
58 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1370502566
CA402255844
60 N>S No ClinGen
TOPMed
CA298321934
rs754554442
63 R>I No ClinGen
TOPMed
gnomAD
TCGA novel 67 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402255916
rs1363216536
71 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1402590553
CA402255921
72 A>S No ClinGen
gnomAD
TCGA novel 74 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175427545
CA402255943
75 L>F No ClinGen
gnomAD
CA8930663
rs761336148
76 E>Q No ClinGen
ExAC
gnomAD
CA8930664
rs766960918
77 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8930667
rs200018900
78 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA402255978
rs1315758650
80 R>K No ClinGen
gnomAD
rs7229690
CA8930668
VAR_052109
81 K>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766714253
CA8930669
82 F>L No ClinGen
ExAC
gnomAD
TCGA novel 84 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 91 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402256069
rs1483366182
92 Q>H No ClinGen
gnomAD
rs771639268
CA8930688
95 F>L No ClinGen
ExAC
gnomAD
rs747736592
CA8930686
95 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs761132854
CA8930689
96 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA402256113
rs1455606551
97 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs771435681
CA8930690
97 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA402256205
rs1418941462
109 Q>P No ClinGen
gnomAD
rs1318713318
CA402256210
110 D>N No ClinGen
gnomAD
CA298322110
rs200800390
117 I>V No ClinGen
gnomAD
CA402256265
rs1306686290
118 I>V No ClinGen
gnomAD
rs1352506409
CA402256279
120 N>Y No ClinGen
gnomAD
rs763261761
CA8930695
122 Q>H No ClinGen
ExAC
gnomAD
rs764136681
CA8930696
123 I>V No ClinGen
ExAC
gnomAD
CA8930700
rs753660399
126 D>G No ClinGen
ExAC
gnomAD
CA8930699
rs780062639
126 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA8930701
rs754775307
127 S>A No ClinGen
ExAC
gnomAD
rs1009524449
CA298322111
129 G>A No ClinGen
TOPMed
CA8930702
rs778679208
130 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA298323221
rs76178144
131 S>R No ClinGen
Ensembl
rs1330533554
CA402256376
133 R>G No ClinGen
gnomAD
rs1338322894
CA402256379
133 R>T No ClinGen
gnomAD
CA298323222
rs78071298
135 E>K No ClinGen
Ensembl
rs1327006694
CA402256407
137 S>F No ClinGen
Ensembl
rs1294294734
CA402256411
138 T>A No ClinGen
gnomAD
rs1357692531
CA402256428
140 D>E No ClinGen
TOPMed
gnomAD
CA402256457
rs1217358916
144 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 144 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402256463
rs1555699737
145 Y>F No ClinGen
Ensembl
CA298323223
rs1040860551
147 E>D No ClinGen
TOPMed
gnomAD
CA402256490
rs1318740748
149 T>A No ClinGen
gnomAD
rs1211908053
CA402256518
151 S>F No ClinGen
gnomAD
rs1282702998
CA402256529
153 G>D No ClinGen
gnomAD
TCGA novel 155 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402256547
rs1275655873
156 T>A No ClinGen
TOPMed
TCGA novel 165 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772660133
CA298323334
168 T>I No ClinGen
Ensembl
COSM987714
CA8930742
rs759513121
171 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs554701391
CA8930743
171 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752580212
CA8930744
174 D>A No ClinGen
ExAC
gnomAD
CA298323335
rs914673896
181 L>R No ClinGen
Ensembl
rs1477384304
CA402256742
183 Q>H No ClinGen
gnomAD
CA298323336
rs968861963
184 I>T No ClinGen
gnomAD
CA402256761
rs1481844928
186 P>L No ClinGen
gnomAD
TCGA novel 186 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173920254
CA402256764
187 V>L No ClinGen
gnomAD
rs1246796336
CA402256794
190 P>A No ClinGen
TOPMed
rs369606904
CA8930756
193 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780720605
CA8930755
193 V>M No ClinGen
ExAC
gnomAD
TCGA novel 196 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs971419660
CA298323530
197 W>G No ClinGen
TOPMed
CA8930758
rs779136044
199 D>N No ClinGen
ExAC
gnomAD
CA402256864
rs1364774010
200 P>S No ClinGen
gnomAD
rs1309524763
CA402256932
208 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA402256943
rs1390633384
209 S>T No ClinGen
gnomAD
TCGA novel 213 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 217 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402257018
rs1328011069
218 D>E No ClinGen
gnomAD
CA402257072
rs1310311957
224 N>S No ClinGen
TOPMed
gnomAD
CA298323813
rs111517421
226 Q>R No ClinGen
Ensembl
rs1182230646
CA402257095
228 D>H No ClinGen
TOPMed
rs777981886
CA8930778
233 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1274943635
CA402257143
234 Q>R No ClinGen
gnomAD
rs747164148
CA8930779
235 T>I No ClinGen
ExAC
gnomAD
CA8930780
rs771064744
239 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA402257189
rs1203194550
241 F>S No ClinGen
gnomAD
rs1251598383
CA402257216
245 I>V No ClinGen
gnomAD

No associated diseases with Q8WVD3

1 regional properties for Q8WVD3

Type Name Position InterPro Accession
domain HemY, N-terminal 27 - 116 IPR010817

Functions

Description
EC Number 2.3.2.27 Aminoacyltransferases
Subcellular Localization
  • Chromosome
  • Recruited at DNA damage sites (PubMed:26502055)
  • Localizes to sites of double-strand break: localization to double-strand break sites is mediated by the zinc fingers (PubMed:26502055, PubMed:26502057)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 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.
site of double-strand break A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

4 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
single-stranded DNA binding Binding to single-stranded DNA.
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.

4 GO annotations of biological process

Name Definition
DNA double-strand break processing involved in repair via single-strand annealing The 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang that results in the repair of a double strand break via single-strand annealing.
double-strand break repair via homologous recombination The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9CQE0 Rnf138 E3 ubiquitin-protein ligase RNF138 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAEDLSAATS YTEDDFYCPV CQEVLKTPVR TTACQHVFCR KCFLTAMRES GAHCPLCRGN
70 80 90 100 110 120
VTRRERACPE RALDLENIMR KFSGSCRCCA KQIKFYRMRH HYKSCKKYQD EYGVSSIIPN
130 140 150 160 170 180
FQISQDSVGN SNRSETSTSD NTETYQENTS SSGHPTFKCP LCQESNFTRQ RLLDHCNSNH
190 200 210 220 230 240
LFQIVPVTCP ICVSLPWGDP SQITRNFVSH LNQRHQFDYG EFVNLQLDEE TQYQTAVEES
FQVNI