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

Gene ID: 51322, updated on 1-Mar-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
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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)

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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.

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

    UniProtKB/TrEMBL
    A0A8V8TQV5
    Related
    ENSP00000506445.1, ENST00000679428.1
  2. XM_047425315.1XP_047281271.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  3. XM_047425321.1XP_047281277.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  4. XM_047425310.1XP_047281266.1  WW domain-containing adapter protein with coiled-coil isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQV5
  5. XM_047425311.1XP_047281267.1  WW domain-containing adapter protein with coiled-coil isoform X2

    UniProtKB/TrEMBL
    A0A8V8TQV5
  6. XM_047425318.1XP_047281274.1  WW domain-containing adapter protein with coiled-coil isoform X6

    UniProtKB/TrEMBL
    A0A0A0MRT2
  7. XM_047425316.1XP_047281272.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  8. XM_047425312.1XP_047281268.1  WW domain-containing adapter protein with coiled-coil isoform X3

    UniProtKB/TrEMBL
    A0A8V8TQV5
  9. XM_047425313.1XP_047281269.1  WW domain-containing adapter protein with coiled-coil isoform X4

    UniProtKB/TrEMBL
    A0A8V8TQV5
  10. XM_047425319.1XP_047281275.1  WW domain-containing adapter protein with coiled-coil isoform X7

    UniProtKB/TrEMBL
    A0A0A0MRT2
  11. XM_047425309.1XP_047281265.1  WW domain-containing adapter protein with coiled-coil isoform X9

    UniProtKB/TrEMBL
    A0A8V8TQV5
  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

    UniProtKB/TrEMBL
    A0A8V8TQV5
    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

    UniProtKB/TrEMBL
    A0A8V8TQV5
  2. XM_054366036.1XP_054222011.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  3. XM_054366043.1XP_054222018.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  4. XM_054366032.1XP_054222007.1  WW domain-containing adapter protein with coiled-coil isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQV5
  5. XM_054366033.1XP_054222008.1  WW domain-containing adapter protein with coiled-coil isoform X2

    UniProtKB/TrEMBL
    A0A8V8TQV5
  6. XM_054366038.1XP_054222013.1  WW domain-containing adapter protein with coiled-coil isoform X11

    UniProtKB/TrEMBL
    A0A0A0MRT2
  7. XM_054366039.1XP_054222014.1  WW domain-containing adapter protein with coiled-coil isoform X6

    UniProtKB/TrEMBL
    A0A0A0MRT2
  8. XM_054366037.1XP_054222012.1  WW domain-containing adapter protein with coiled-coil isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQV5
  9. XM_054366034.1XP_054222009.1  WW domain-containing adapter protein with coiled-coil isoform X3

    UniProtKB/TrEMBL
    A0A8V8TQV5
  10. XM_054366035.1XP_054222010.1  WW domain-containing adapter protein with coiled-coil isoform X4

    UniProtKB/TrEMBL
    A0A8V8TQV5
  11. XM_054366040.1XP_054222015.1  WW domain-containing adapter protein with coiled-coil isoform X7

    UniProtKB/TrEMBL
    A0A0A0MRT2
  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

    UniProtKB/TrEMBL
    A0A0A0MRT2

RNA

  1. XR_008488219.1 RNA Sequence