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

    Gene ID: 51322, updated on 5-May-2024

    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; AllianceGenome:HGNC:17327
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WAC in Genome Data Viewer
    Location:
    10p12.1; 10p12.1-p11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (28532779..28623112)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (28563354..28653650)
    105.20220307 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 ReSE screen-validated silencer GRCh37_chr10:28733718-28733938 Neighboring gene RN7SK pseudogene 39 Neighboring gene NANOG hESC enhancer GRCh37_chr10:28782091-28782660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:28821447-28822130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2255 Neighboring gene WAC antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2256 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:28943960-28944522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:28946775-28947338 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

    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

    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
     
    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
     
    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
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
     

    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
      5531..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
      A8K2A9, C9JBT9, D3DRW5, D3DRW6, D3DRW7, Q53EN9, Q5JU75, Q5JU77, Q5VXK0, Q5VXK2, Q8TCK1, Q96DP3, Q96FW6, Q96JI3, Q9BTA9
      UniProtKB/TrEMBL
      A0A8V8TQV5
      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/TrEMBL
      A0A8V8TQV5
      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/TrEMBL
      A0A0A0MRT2
      Related
      ENSP00000311106.4, ENST00000347934.8
      Conserved Domains (1) summary
      pfam00397
      Location:133160
      WW; WW domain

    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

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      28532779..28623112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425320.1XP_047281276.1  WW domain-containing adapter protein with coiled-coil isoform X5

      Related
      ENSP00000506445.1, ENST00000679428.1
    2. XM_047425315.1XP_047281271.1  WW domain-containing adapter protein with coiled-coil isoform X5

    3. XM_047425321.1XP_047281277.1  WW domain-containing adapter protein with coiled-coil isoform X5

    4. XM_047425310.1XP_047281266.1  WW domain-containing adapter protein with coiled-coil isoform X1

    5. XM_047425311.1XP_047281267.1  WW domain-containing adapter protein with coiled-coil isoform X2

    6. XM_047425318.1XP_047281274.1  WW domain-containing adapter protein with coiled-coil isoform X6

    7. XM_047425316.1XP_047281272.1  WW domain-containing adapter protein with coiled-coil isoform X5

    8. XM_047425312.1XP_047281268.1  WW domain-containing adapter protein with coiled-coil isoform X3

    9. XM_047425313.1XP_047281269.1  WW domain-containing adapter protein with coiled-coil isoform X4

    10. XM_047425319.1XP_047281275.1  WW domain-containing adapter protein with coiled-coil isoform X7

    11. XM_047425309.1XP_047281265.1  WW domain-containing adapter protein with coiled-coil isoform X9

    12. XM_047425314.1XP_047281270.1  WW domain-containing adapter protein with coiled-coil isoform X10

    13. XM_047425322.1XP_047281278.1  WW domain-containing adapter protein with coiled-coil isoform X8

    14. XM_047425317.1XP_047281273.1  WW domain-containing adapter protein with coiled-coil isoform X5

      Related
      ENSP00000506624.1, ENST00000679398.1

    RNA

    1. XR_007061967.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      28563354..28653650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366042.1XP_054222017.1  WW domain-containing adapter protein with coiled-coil isoform X5

    2. XM_054366036.1XP_054222011.1  WW domain-containing adapter protein with coiled-coil isoform X5

    3. XM_054366043.1XP_054222018.1  WW domain-containing adapter protein with coiled-coil isoform X5

    4. XM_054366032.1XP_054222007.1  WW domain-containing adapter protein with coiled-coil isoform X1

    5. XM_054366033.1XP_054222008.1  WW domain-containing adapter protein with coiled-coil isoform X2

    6. XM_054366038.1XP_054222013.1  WW domain-containing adapter protein with coiled-coil isoform X11

    7. XM_054366039.1XP_054222014.1  WW domain-containing adapter protein with coiled-coil isoform X6

    8. XM_054366037.1XP_054222012.1  WW domain-containing adapter protein with coiled-coil isoform X5

    9. XM_054366034.1XP_054222009.1  WW domain-containing adapter protein with coiled-coil isoform X3

    10. XM_054366035.1XP_054222010.1  WW domain-containing adapter protein with coiled-coil isoform X4

    11. XM_054366040.1XP_054222015.1  WW domain-containing adapter protein with coiled-coil isoform X7

    12. XM_054366044.1XP_054222019.1  WW domain-containing adapter protein with coiled-coil isoform X8

    13. XM_054366041.1XP_054222016.1  WW domain-containing adapter protein with coiled-coil isoform X12

    RNA

    1. XR_008488219.1 RNA Sequence