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

    Gene ID: 55100, updated on 10-Dec-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, Dec 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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 (56) 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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    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

      UniProtKB/TrEMBL
      A8K564

    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

      UniProtKB/TrEMBL
      A8K564

    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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