WDR70 WD repeat domain 70 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR70provided by HGNC
Official Full Name: WD repeat domain 70provided by HGNC
Primary source: HGNC:HGNC:25495
See related: Ensembl:ENSG00000082068 MIM:617233; AllianceGenome:HGNC:25495
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables enzyme binding activity. Predicted to be involved in regulation of DNA double-strand break processing and regulation of histone H2B conserved C-terminal lysine ubiquitination. Predicted to be active in nucleus and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in endometrium (RPKM 8.3), testis (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (37379318..37753435)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (37629123..38002608)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (37379420..37753537)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair.
Title: Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair.
Ovarian cancer had different expression of WDR70 and H2B monoubiquitination compared with normal tissue
Title: [DNA Repair Function and Mutation of an H2B Monoubiquitination Factor WDR70 in Ovarian Cancer].
CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent DNA repair resection.
Title: CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent resection.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48890 (e-PCR)
- UniSTS:89602

G19189 (e-PCR)
- UniSTS:42801

1858 (e-PCR)
- UniSTS:10324

SHGC-154968 (e-PCR)
- UniSTS:184153

SHGC-172433 (e-PCR)
- UniSTS:184201

STS-N74440 (e-PCR)
- UniSTS:68747

D5S1998 (e-PCR), detects polymorphism
- UniSTS:13522

SHGC-78651 (e-PCR)
- UniSTS:102104

D5S1578E (e-PCR)
- UniSTS:151003

WI-11355 (e-PCR)
- UniSTS:21503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: WD repeat-containing protein 70

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001345998.2 → NP_001332927.1 WD repeat-containing protein 70 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC025469, AC093269, AC117532

UniProtKB/TrEMBL

A8K564
NM_001345999.2 → NP_001332928.1 WD repeat-containing protein 70 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC025469, AC093269, AC117532

UniProtKB/TrEMBL

A8K564
NM_018034.4 → NP_060504.1 WD repeat-containing protein 70 isoform 1

See identical proteins and their annotated locations for NP_060504.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC093269, BC009648

Consensus CDS

CCDS34147.1

UniProtKB/Swiss-Prot

Q9H053, Q9NW82

UniProtKB/TrEMBL

A8K564

Related

ENSP00000265107.4, ENST00000265107.9

Conserved Domains (2) summary

sd00039
Location:185 → 227

7WD40; WD40 repeat [structural motif]

cl29593
Location:177 → 498

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

37379318..37753435

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417348.1 → XP_047273304.1 WD repeat-containing protein 70 isoform X1
XM_011514061.3 → XP_011512363.1 WD repeat-containing protein 70 isoform X2

Conserved Domains (3) summary

COG2319
Location:38 → 250

WD40; WD40 repeat [General function prediction only]

sd00039
Location:44 → 82

7WD40; WD40 repeat [structural motif]

cl02567
Location:38 → 256

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...