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

Gene ID: 7454, updated on 22-Jan-2020

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
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

Genomic context

See WAS in Genome Data Viewer
Location:
Xp11.23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48683753..48691427)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48542186..48549818)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WD repeat domain 13 Neighboring gene uncharacterized LOC107985695 Neighboring gene vomeronasal 1 receptor 110 pseudogene Neighboring gene suppressor of variegation 3-9 homolog 1 Neighboring gene Sharpr-MPRA regulatory region 10462

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase regulator activity TAS
Traceable Author Statement
more info
PubMed 
Rac GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phospholipase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Cdc42 protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
NOT Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell activation IEA
Inferred from Electronic Annotation
more info
 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
actin cortical patch assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cortical patch localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin polymerization or depolymerization TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosomal transport IEA
Inferred from Electronic Annotation
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Arp2/3 complex-mediated actin nucleation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of T cell antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin polymerization or depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of double-strand break repair via nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lamellipodium assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of stress fiber assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
actin cortical patch IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
wiskott-Aldrich syndrome protein
Names
eczema-thrombocytopenia
thrombocytopenia 1 (X-linked)

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_007877.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000377.3NP_000368.1  wiskott-Aldrich syndrome protein

    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
    UniProtKB/TrEMBL
    A0A024QYX8
    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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48683753..48691427
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029786.1XP_016885275.1  wiskott-Aldrich syndrome protein isoform X2

  2. XM_011543977.2XP_011542279.1  wiskott-Aldrich syndrome protein isoform X1

    Conserved Domains (2) summary
    pfam00568
    Location:36145
    WH1; WH1 domain
    pfam00786
    Location:237293
    PBD; P21-Rho-binding domain
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