WASF1 - WASP family member 1 Gene

Also Known as WAVE; SCAR1; WAVE1; NEDALVS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8936

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9843499	GOA
enables protein kinase A binding	IPI IPI: Inferred from physical interaction	25097019	GOA
contributes to small GTPase binding	IMP IMP: Inferred from mutant phenotype	21107423	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Rac protein signal transduction	IMP IMP: Inferred from mutant phenotype	21107423	GOA
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	29961568	GOA
involved in lamellipodium morphogenesis	IMP IMP: Inferred from mutant phenotype	29961568	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	29961568	GOA
involved in positive regulation of Arp2/3 complex-mediated actin nucleation	IMP IMP: Inferred from mutant phenotype	21107423	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SCAR complex	IMP IMP: Inferred from mutant phenotype	21107423	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	25097019	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

WASF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	WASF1	Q92558	CCDC196	Homo sapiens	A0A1B0GWI1	Y2H Array	32296183
Intra	WASF1	Q92558	CCDC196	Homo sapiens	A0A1B0GWI1	Y2H Prey Pooling	32296183
Intra	WASF1	Q92558	ING5	Homo sapiens	Q8WYH8	Y2H Prey Pooling	32296183
Intra	WASF1	Q92558	ING5	Homo sapiens	Q8WYH8	Y2H Array	32296183
Intra	WASF1	Q92558	BAIAP2	Homo sapiens	Q9UQB8	Y2H	11130076
Intra	WASF1	Q92558	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	WASF1	Q92558	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	WASF1	Q92558	PFN1	Homo sapiens	P07737	Pull Down	9843499
Intra	WASF1	Q92558	TRIP10	Homo sapiens	Q15642	Y2H Array	25416956
Intra	WASF1	Q92558	TRIP10	Homo sapiens	Q15642	Y2H Prey Pooling	25416956
Intra	WASF1	Q92558	ABI3	Homo sapiens	Q9P2A4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

WASF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82671	WAVE 1 Antibody (YA2416)	WB	Human, Mouse, Rat
HY-P82671A	WAVE 1 Antibody (YA2416)(PBS only)	WB	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15742	WASF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22917	Wasf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29431	Wasf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	WASF1	NCBI