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

Gene ID: 55100, updated on 27-Nov-2024

Summary

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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 located in nucleoplasm. Predicted to be active in nucleus and site of double-strand break. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 8.3), testis (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

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See WDR70 in Genome Data Viewer
Location:
5p13.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (37379318..37753435)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (37629123..38002608)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37379420..37753537)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ciliogenesis and planar polarity effector complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15979 Neighboring gene MPRA-validated peak5228 silencer Neighboring gene CPLANE1 antisense RNA 1 Neighboring gene MPRA-validated peak5230 silencer Neighboring gene nucleoporin 155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22487 Neighboring gene RNA, U7 small nuclear 75 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:37432735-37433237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22489 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37506116-37507315 Neighboring gene MPRA-validated peak5231 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37533396-37534595 Neighboring gene Sharpr-MPRA regulatory region 4193 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:37562531-37563238 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 5 Neighboring gene MPRA-validated peak5232 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:37630447-37630947 Neighboring gene RNA, U6 small nuclear 1190, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3878 Neighboring gene Sharpr-MPRA regulatory region 6618 Neighboring gene Sharpr-MPRA regulatory region 9268 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37724134-37725333 Neighboring gene RNA, U6 small nuclear 484, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:37756428-37756676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:37836250-37837188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:37839067-37840004 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:37847590-37848789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22493 Neighboring gene GDNF antisense RNA 1 Neighboring gene glial cell derived neurotrophic factor Neighboring gene long intergenic non-protein coding RNA 2117

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair. Mao X, et al. Sci Adv, 2023 Sep 8. PMID 37682991, Free PMC Article
  2. [Functional Analysis of DNA Damage Repair Factor WDR70 and Its Mutation in Ovarian Cancer]. Guo LD, et al. Sichuan Da Xue Xue Bao Yi Xue Ban, 2016 Jul. PMID 28591950
  3. [DNA Repair Function and Mutation of an H2B Monoubiquitination Factor WDR70 in Ovarian Cancer]. Tang ZZ, et al. Sichuan Da Xue Xue Bao Yi Xue Ban, 2017 Sep. PMID 29130659
  4. The Antiresection Activity of the X Protein Encoded by Hepatitis Virus B. Ren L, et al. Hepatology, 2019 Jun. PMID 30791110, Free PMC Article
  5. CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent resection. Zeng M, et al. Nat Commun, 2016 Apr 21. PMID 27098497, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair.
    Title: Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair.
  2. 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].
  3. 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

Homology

Clone Names

  • FLJ10233

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)

  1. 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

  2. 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

  3. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    37379318..37753435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417348.1 → XP_047273304.1  WD repeat-containing protein 70 isoform X1

  2. 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    37629123..38002608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352877.1 → XP_054208852.1  WD repeat-containing protein 70 isoform X1

  2. XM_054352878.1 → XP_054208853.1  WD repeat-containing protein 70 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW82.1 GenPept UniProtKB/Swiss-Prot:Q9NW82

Gene LinkOut

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