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    WDR76 WD repeat domain 76 [ Homo sapiens (human) ]

    Gene ID: 79968, updated on 2-Nov-2024

    Summary

    Official Symbol
    WDR76provided by HGNC
    Official Full Name
    WD repeat domain 76provided by HGNC
    Primary source
    HGNC:HGNC:25773
    See related
    Ensembl:ENSG00000092470 MIM:620302; AllianceGenome:HGNC:25773
    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
    Also known as
    CMR1; CDW14
    Summary
    Enables enzyme binding activity. Involved in DNA damage response. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 6.6), bone marrow (RPKM 3.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WDR76 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43827002..43868412)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41634360..41675772)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44119200..44160610)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SERF2-C15orf63 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44092216-44092916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6390 Neighboring gene microfibril associated protein 1 Neighboring gene huntingtin interacting protein K Neighboring gene VISTA enhancer hs1881 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene FERM domain containing 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220113-44220764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220765-44221414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9333 Neighboring gene NANOG hESC enhancer GRCh37_chr15:44265102-44265603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281101-44281938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281939-44282775 Neighboring gene ACTB pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12973

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA damage checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in heterochromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    WD repeat-containing protein 76

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001167941.2NP_001161413.1  WD repeat-containing protein 76 isoform 2

      See identical proteins and their annotated locations for NP_001161413.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA743653, AC023356, AK023035, BC025247, BC051855, BX374706
      Consensus CDS
      CCDS53938.1
      UniProtKB/TrEMBL
      A0A0C4DFX7
      Related
      ENSP00000370645.2, ENST00000381246.6
      Conserved Domains (2) summary
      sd00039
      Location:252294
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:249460
      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 ...
    2. NM_024908.4NP_079184.2  WD repeat-containing protein 76 isoform 1

      See identical proteins and their annotated locations for NP_079184.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA743653, AC023356, AK023035, BC025247, DA439086
      Consensus CDS
      CCDS10106.1
      UniProtKB/Swiss-Prot
      A0MNP5, Q05CI4, Q9H967
      Related
      ENSP00000263795.6, ENST00000263795.11
      Conserved Domains (3) summary
      COG2319
      Location:242541
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:316358
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:313524
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43827002..43868412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41634360..41675772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)