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

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Wiskott-Aldrich syndrome protein (WASp) in epigenetic regulation of B cell differentiation in non-small-cell lung cancer (NSCLC).
Title: Association of Wiskott-Aldrich syndrome protein (WASp) in epigenetic regulation of B cell differentiation in non-small-cell lung cancer (NSCLC).
Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies.
Title: Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies.
Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.
Title: Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
Title: Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Title: WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
Title: Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
WASP integrates substrate topology and cell polarity to guide neutrophil migration.
Title: WASP integrates substrate topology and cell polarity to guide neutrophil migration.
Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese minorities: Two case reports.
Title: Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese minorities: Two case reports.
WASP functions in immune defense and homeostasis through the regulation of actin cytoskeleton-dependent cellular processes as well as processes uncoupled with actin polymerization like nuclear transcription programs. (Review)
Title: The role of WASp in T cells and B cells.
We provide molecular evidence that the hyperactivity of X-linked neutropenia neutrophils is caused by WASp in a constitutively open conformation due to contingent phosphorylation of the critical tyrosine-293 and plasma membrane localization.
Title: Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.

Submit: New GeneRIF Correction See all GeneRIFs (140)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Thrombocytopenia 1 MedGen: C1839163 OMIM: 313900 GeneReviews: WAS-Related Disorders	Compare labs
Wiskott-Aldrich syndrome MedGen: C0043194 OMIM: 301000 GeneReviews: WAS-Related Disorders	Compare labs
X-linked severe congenital neutropenia MedGen: C1845987 OMIM: 300299 GeneReviews: WAS-Related Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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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

RH91122 (e-PCR)
- UniSTS:84865

RH79911 (e-PCR)
- UniSTS:91828

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 more info	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

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Preferred Names: actin nucleation-promoting factor WAS

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

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

NG_007877.1 RefSeqGene

Range

5001..12633

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_125

mRNA and Protein(s)

NM_000377.3 → NP_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:36 → 145

WH1; WH1 domain

pfam00786
Location:237 → 293

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

48676636..48691427

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A8V8TM35, A0A8V8TNH9
XM_047442434.1 → XP_047298390.1 actin nucleation-promoting factor WAS isoform X3

UniProtKB/Swiss-Prot

P42768, Q9BU11, Q9UNJ9

Related

ENSP00000513844.1, ENST00000698625.1
XM_047442433.1 → XP_047298389.1 actin nucleation-promoting factor WAS isoform X2
XM_011543977.3 → XP_011542279.1 actin nucleation-promoting factor WAS isoform X4

UniProtKB/TrEMBL

A0A8V8TNH9

Conserved Domains (2) summary

pfam00568
Location:36 → 145

WH1; WH1 domain

pfam00786
Location:237 → 293

PBD; P21-Rho-binding domain
XM_047442432.1 → XP_047298388.1 actin nucleation-promoting factor WAS isoform X1

UniProtKB/TrEMBL

A0A8V8TM35

Related

ENSP00000513850.1, ENST00000698635.1

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

48087208..48101908

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P42768, Q9BU11, Q9UNJ9
XM_054327712.1 → XP_054183687.1 actin nucleation-promoting factor WAS isoform X1

UniProtKB/TrEMBL

A0A8V8TM35
XM_054327713.1 → XP_054183688.1 actin nucleation-promoting factor WAS isoform X2
XM_054327715.1 → XP_054183690.1 actin nucleation-promoting factor WAS isoform X4