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    WAS WASP actin nucleation promoting factor [ Homo sapiens (human) ]

    Gene ID: 7454, updated on 19-May-2024

    Summary

    Official Symbol
    WASprovided by HGNC
    Official Full Name
    WASP actin nucleation promoting factorprovided by HGNC
    Primary source
    HGNC:HGNC:12731
    See related
    Ensembl:ENSG00000015285 MIM:300392; AllianceGenome:HGNC:12731
    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
    THC; IMD2; SCNX; THC1; WASP; WASPA
    Summary
    The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 29.3), appendix (RPKM 29.1) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WAS in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48676636..48691427)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48087208..48101908)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48542188..48549818)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985695 Neighboring gene vomeronasal 1 receptor 110 pseudogene Neighboring gene uncharacterized LOC124905186 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:48506792-48507454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20819 Neighboring gene uncharacterized LOC124905187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29608 Neighboring gene SUV39H1 histone lysine methyltransferase

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env M-tropic HIV-1 gp120 enhances the binding of WASp and the actin-related protein 2/3 complex with beta-actin, an interaction essential for the proper formation of podosomes in immature monocyte-derived dendritic cells PubMed
    env Inhibition of M-tropic HIV-1 gp120-induced transendothelial migration by SLIT2N involves SLIT2N-mediated enhancement of co-localization of Robo1 with WASp and LSP1 in immature monocyte-derived dendritic cells PubMed
    env SLIT2N, an active fragment of SLIT2, inhibits M-tropic HIV-1 gp120-induced association of LSP1, Wiskott-Aldrich Syndrome protein (WASp), Actin-Related Protein 2/3 (Arp2/3), and beta-actin in immature monocyte-derived dendritic cells PubMed
    env DC-SIGN engagement by HIV-1 gp120 on dendritic cell (DC) surface subsequently activates Cdc42, Pak1, and Wasp, leading to an increase in membrane extensions at the DC surface PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human Wiskott-Aldrich syndrome protein (WAS) at amino acid residues 291-292 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase regulator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Cdc42 protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament-based movement IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin polymerization or depolymerization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endosomal transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of T cell antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin polymerization or depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of lamellipodium assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of stress fiber assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    actin nucleation-promoting factor WAS
    Names
    eczema-thrombocytopenia
    thrombocytopenia 1 (X-linked)
    wiskott-Aldrich syndrome protein

    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_007877.1 RefSeqGene

      Range
      5001..12633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_125

    mRNA and Protein(s)

    1. NM_000377.3NP_000368.1  actin nucleation-promoting factor WAS

      See identical proteins and their annotated locations for NP_000368.1

      Status: REVIEWED

      Source sequence(s)
      BI910072, CF529565, U19927
      Consensus CDS
      CCDS14303.1
      UniProtKB/Swiss-Prot
      P42768, Q9BU11, Q9UNJ9
      UniProtKB/TrEMBL
      A0A8V8TNH9
      Related
      ENSP00000365891.4, ENST00000376701.5
      Conserved Domains (2) summary
      pfam00568
      Location:36145
      WH1; WH1 domain
      pfam00786
      Location:237293
      PBD; P21-Rho-binding 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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48676636..48691427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029786.2XP_016885275.1  actin nucleation-promoting factor WAS isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM35, A0A8V8TNH9
    2. XM_047442434.1XP_047298390.1  actin nucleation-promoting factor WAS isoform X3

      UniProtKB/Swiss-Prot
      P42768, Q9BU11, Q9UNJ9
      Related
      ENSP00000513844.1, ENST00000698625.1
    3. XM_047442433.1XP_047298389.1  actin nucleation-promoting factor WAS isoform X2

    4. XM_011543977.3XP_011542279.1  actin nucleation-promoting factor WAS isoform X4

      UniProtKB/TrEMBL
      A0A8V8TNH9
      Conserved Domains (2) summary
      pfam00568
      Location:36145
      WH1; WH1 domain
      pfam00786
      Location:237293
      PBD; P21-Rho-binding domain
    5. XM_047442432.1XP_047298388.1  actin nucleation-promoting factor WAS isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM35
      Related
      ENSP00000513850.1, ENST00000698635.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48087208..48101908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327714.1XP_054183689.1  actin nucleation-promoting factor WAS isoform X3

      UniProtKB/Swiss-Prot
      P42768, Q9BU11, Q9UNJ9
    2. XM_054327712.1XP_054183687.1  actin nucleation-promoting factor WAS isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM35
    3. XM_054327713.1XP_054183688.1  actin nucleation-promoting factor WAS isoform X2

    4. XM_054327715.1XP_054183690.1  actin nucleation-promoting factor WAS isoform X4