WASF1 - WASP family member 1 Gene

Homo sapiens

Also known as WAVE; SCAR1; WAVE1; NEDALVS

Gene ID: 8936 | Gene type: protein coding

About WASF1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:110,099,819-110,179,670 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues.

Summary

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin Cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin Cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

WASF1 Products(4)

mRNA	Protein	Name
NM_001024934.2	NP_001020105.1	actin-binding protein WASF1
NM_001024935.2	NP_001020106.1	actin-binding protein WASF1
NM_001024936.2	NP_001020107.1	actin-binding protein WASF1
NM_003931.3	NP_003922.1	actin-binding protein WASF1

WASF1 Protein Structure

WH2

0
100
200
300
400
500
559 a.a.

Protein Preferred Names

Protein Names

actin-binding protein WASF1

WAS protein family member 1

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Absent Language And Variable Seizures

NEDALVS

Ito-Raymond Syndrome

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Wiskott-Aldrich Syndrome

WAS	Eczema-Thrombocytopenia-Immunodeficiency Syndrome
Immunodeficiency 2	Aldrich Syndrome
Imd2	Wiskott-Aldrich Syndrome 1
Was1	Wiskott Syndrome
Wiskott Aldrich Syndrome	Eczema Thrombocytopenia Immunodeficiency Syndrome
Imd 2

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

Histrionic Personality Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15742	WASF1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	WASF1	RGD	RGD:1561954
Bos taurus	WASF1	VGNC	VGNC:36865
Macaca mulatta	WASF1	VGNC	VGNC:83970
Mus musculus	WASF1	MGD	MGI:1890563
Canis familiaris	WASF1	VGNC	VGNC:48333
Felis catus	WASF1	VGNC	VGNC:67002

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