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    WAC WW domain containing adaptor with coiled-coil [ Homo sapiens (human) ]

    Gene ID: 51322, updated on 8-Jul-2021

    Summary

    Official Symbol
    WACprovided by HGNC
    Official Full Name
    WW domain containing adaptor with coiled-coilprovided by HGNC
    Primary source
    HGNC:HGNC:17327
    See related
    Ensembl:ENSG00000095787 MIM:615049
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Wwp4; DESSH; BM-016; PRO1741
    Summary
    The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 29.5), thyroid (RPKM 26.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See WAC in Genome Data Viewer
    Location:
    10p12.1; 10p12.1-p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (28532772..28623112)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28821708..28912041)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2652 Neighboring gene RN7SK pseudogene 39 Neighboring gene WAC antisense RNA 1 (head to head) Neighboring gene RNA, U4atac small nuclear 6, pseudogene Neighboring gene TP53RK binding protein pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Desanto-shinawi syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2018-02-28)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10753

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    WW domain-containing adapter protein with coiled-coil

    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.

    Genomic

    1. NG_046603.1 RefSeqGene

      Range
      5192..95525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016628.5NP_057712.2  WW domain-containing adapter protein with coiled-coil isoform 1

      See identical proteins and their annotated locations for NP_057712.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK290174, AL161936, AL358234, CB143386
      Consensus CDS
      CCDS7159.1
      UniProtKB/Swiss-Prot
      Q9BTA9
      Related
      ENSP00000346986.4, ENST00000354911.9
      Conserved Domains (1) summary
      pfam00397
      Location:133160
      WW; WW domain
    2. NM_100264.3NP_567822.1  WW domain-containing adapter protein with coiled-coil isoform 2

      See identical proteins and their annotated locations for NP_567822.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, comapared to isoform 1.
      Source sequence(s)
      AA424883, AK225846, AL161936
      Consensus CDS
      CCDS7161.1
      UniProtKB/Swiss-Prot
      Q9BTA9
      Related
      ENSP00000364816.3, ENST00000375664.8
      Conserved Domains (2) summary
      pfam00397
      Location:88115
      WW; WW domain
      cl26464
      Location:190466
      Atrophin-1; Atrophin-1 family
    3. NM_100486.4NP_567823.1  WW domain-containing adapter protein with coiled-coil isoform 3

      See identical proteins and their annotated locations for NP_567823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a coding exon but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL161936, AL358234, BC010356, BI226998, CB143386
      Consensus CDS
      CCDS7160.1
      UniProtKB/Swiss-Prot
      Q9BTA9
      Related
      ENSP00000311106.4, ENST00000347934.8
      Conserved Domains (1) summary
      pfam00397
      Location:133160
      WW; WW domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      28532772..28623112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016315.2XP_016871804.1  WW domain-containing adapter protein with coiled-coil isoform X2

    2. XM_017016317.2XP_016871806.1  WW domain-containing adapter protein with coiled-coil isoform X3

      Related
      ENSP00000364797.1, ENST00000375646.5
      Conserved Domains (1) summary
      pfam00397
      Location:88115
      WW; WW domain
    3. XM_017016318.2XP_016871807.1  WW domain-containing adapter protein with coiled-coil isoform X4

    4. XM_024448036.1XP_024303804.1  WW domain-containing adapter protein with coiled-coil isoform X1

      Related
      ENSP00000506624.1, ENST00000679398.1
      Conserved Domains (2) summary
      pfam00397
      Location:88115
      WW; WW domain
      cl26464
      Location:190466
      Atrophin-1; Atrophin-1 family

    RNA

    1. XR_001747110.1 RNA Sequence

      Related
      ENST00000628285.3
    2. XR_930491.2 RNA Sequence

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