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

Summary

Official Symbol: WASLprovided by HGNC
Official Full Name: WASP like actin nucleation promoting factorprovided by HGNC
Primary source: HGNC:HGNC:12735
See related: Ensembl:ENSG00000106299 MIM:605056; AllianceGenome:HGNC:12735
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: NWASP; WASPB; N-WASP
Summary: This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in colon (RPKM 25.7), thyroid (RPKM 23.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q31.32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (123681943..123749003, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (124998697..125065742, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (123321997..123389057, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating beta1-integrin via FAK and MRTF/SRF.
Title: IQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating β1-integrin via FAK and MRTF/SRF.
Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.
Title: Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.
Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes.
Title: Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes.
nWASP Inhibition Increases Wound Healing via TrKb/PLCgamma Signalling.
Title: nWASP Inhibition Increases Wound Healing via TrKb/PLCγ Signalling.
Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.
Title: Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.
FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
Title: FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
Chlamydia trachomatis TmeA Directly Activates N-WASP To Promote Actin Polymerization and Functions Synergistically with TarP during Invasion.
Title: Chlamydia trachomatis TmeA Directly Activates N-WASP To Promote Actin Polymerization and Functions Synergistically with TarP during Invasion.
Loss of Wasl improves pancreatic cancer outcome.
Title: Loss of Wasl improves pancreatic cancer outcome.
TRPV4 activates the Cdc42/N-wasp pathway to promote glioblastoma invasion by altering cellular protrusions.
Title: TRPV4 activates the Cdc42/N-wasp pathway to promote glioblastoma invasion by altering cellular protrusions.
The Chlamydia trachomatis secreted effector TmeA hijacks the N-WASP-ARP2/3 actin remodeling axis to facilitate cellular invasion.
Title: The Chlamydia trachomatis secreted effector TmeA hijacks the N-WASP-ARP2/3 actin remodeling axis to facilitate cellular invasion.

Submit: New GeneRIF Correction See all GeneRIFs (63)

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Nef	nef	HIV-1 Nef inhibits the concomitant activation of the actin organizer N-Wasp by interfering with the translocation of N-Wasp to the cell periphery and blocks morphological changes induced by the known N-Wasp regulators Rac1 and Cdc42	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S487 (e-PCR)
- UniSTS:11590

D7S487 (e-PCR)
- UniSTS:45382

D7S2879 (e-PCR)
- UniSTS:44124

SHGC-144840 (e-PCR)
- UniSTS:172453

RH69244 (e-PCR)
- UniSTS:12007

SHGC-152662 (e-PCR)
- UniSTS:171000

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase regulator activity	TAS Traceable Author Statement more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin polymerization or depolymerization	TAS Traceable Author Statement more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of lymphocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
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 protein-containing complex localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in spindle localization	IEA Inferred from Electronic Annotation more info
involved_in vesicle budding from membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle transport along actin filament	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in actin cap	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: actin nucleation-promoting factor WASL

Names: Wiskott-Aldrich syndrome like; neural 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.

mRNA and Protein(s)

NM_003941.4 → NP_003932.3 actin nucleation-promoting factor WASL

See identical proteins and their annotated locations for NP_003932.3

Status: REVIEWED

Source sequence(s)

BC028602, BC052955, DB380642

Consensus CDS

CCDS34743.1

UniProtKB/Swiss-Prot

A1JUI9, O00401, Q7Z746

UniProtKB/TrEMBL

A8K180

Related

ENSP00000223023.4, ENST00000223023.5

Conserved Domains (4) summary

cd01205
Location:40 → 138

EVH1_WASP-like; WASP family proteins EVH1 domain

pfam00786
Location:202 → 259

PBD; P21-Rho-binding domain

cd22074
Location:402 → 428

WH2_N-WASP_r1; first tandem Wiskott Aldrich syndrome homology region 2 (WH2 motif) repeat found in human Neural Wiskott-Aldrich syndrome protein (N-WASP) and related domains

cd22075
Location:429 → 453

WH2_hN-WASP_r2_like; second tandem Wiskott Aldrich syndrome homology region 2 (WH2 motif) repeat found in human Neural Wiskott-Aldrich syndrome protein (N-WASP) and related domains