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

Gene ID: 51322, updated on 2-Nov-2024

Summary

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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
mouse all
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Genomic context

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See WAC in Genome Data Viewer
Location:
10p12.1; 10p12.1-p11.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (28532779..28623112)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (28563354..28653650)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. WAC-Related Intellectual Disability. Adam MP, et al. , 1993. PMID 29190062
  2. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. Abdelhedi F, et al. Am J Med Genet A, 2016 Jul. PMID 27119754
  3. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). Leonardi E, et al. Genes (Basel), 2020 Mar 24. PMID 32214004, Free PMC Article
  4. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. Morales JA, et al. Am J Med Genet A, 2022 May. PMID 35018708
  5. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K, et al. JAMA, 2015 Sep 1. PMID 26325558

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
    Title: Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
  2. WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy.
    Title: WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy.
  3. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
    Title: Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
  4. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
    Title: Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
  5. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
    Title: A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
  6. these results indicate an important role for WAC in promoting Plk1 activation and the timely entry into mitosis.
    Title: WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.
  7. Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders.
    Title: A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
  8. De novo WAC loss-of-function mutations were identified through exome sequencing of individuals with unexplained intellectual disability.
    Title: De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
  9. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
    Title: WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
  10. Data show that WAC directly binds to GM130 and that this binding is required for autophagosome formation through interacting with GABARAP regulating its subcellular localization.
    Title: Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 
Process Evidence Code Pubs
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic G1 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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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_016628.5 → NP_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:133 → 160
    WW; WW domain

  2. NM_100264.3 → NP_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:88 → 115
    WW; WW domain
    cl26464
    Location:190 → 466
    Atrophin-1; Atrophin-1 family

  3. NM_100486.4 → NP_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:133 → 160
    WW; WW domain

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_000010.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    Related
    ENSP00000506445.1, ENST00000679428.1

  2. XM_047425315.1 → XP_047281271.1  WW domain-containing adapter protein with coiled-coil isoform X5

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

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

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

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

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

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

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

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

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

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

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

  14. XM_047425317.1 → XP_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_054366042.1 → XP_054222017.1  WW domain-containing adapter protein with coiled-coil isoform X5

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

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

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

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

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

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

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

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

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

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

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

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

RNA

  1. XR_008488219.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BTA9.3 GenPept UniProtKB/Swiss-Prot:Q9BTA9

Gene LinkOut

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