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

Gene ID: 51322, updated on 24-Nov-2020

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

Genomic context

See WAC in Genome Data Viewer
Location:
10p12.1; 10p12.1-p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (28532772..28623112)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28821355..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
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

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
RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
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)

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 109.20201120

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

    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

  2. XR_930491.2 RNA Sequence

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