WAS - WASP actin nucleation promoting factor Gene

Homo sapiens

Also known as THC; IMD2; SCNX; THC1; WASP; WASPA

Gene ID: 7454 | Gene type: protein coding

About WAS

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,676,636-48,691,427 (from NCBI)

This gene has 9 transcripts (splice variants), 164 orthologues, 1 paralogue and is associated with 59 phenotypes. Broad expression in spleen (RPKM 29.3), appendix (RPKM 29.1) and 15 other tissues.

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]

WAS Products(1)

mRNA	Protein	Name
NM_000377.3	NP_000368.1	actin nucleation-promoting factor WAS

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	8892607	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10724160	GOA
enables phospholipase binding	IPI IPI: Inferred from physical interaction	8892607	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8892607	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	8892607	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	8625410	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Cdc42 protein signal transduction	IMP IMP: Inferred from mutant phenotype	8625410	GOA
NOT involved in Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	8625410	GOA
involved in actin filament polymerization	IDA IDA: Inferred from direct assay	29925947	GOA
involved in immune response	IMP IMP: Inferred from mutant phenotype	8069912	GOA
involved in negative regulation of cell motility	IMP IMP: Inferred from mutant phenotype	22804504	GOA
involved in negative regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	8625410	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	29925947	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20574068	GOA
involved in regulation of T cell antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	22804504	GOA
involved in regulation of actin polymerization or depolymerization	IMP IMP: Inferred from mutant phenotype	8625410	GOA
NOT involved in regulation of double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	29925947	GOA
involved in regulation of lamellipodium assembly	IGI IGI: Inferred from genetic interaction	8625410	GOA
involved in regulation of stress fiber assembly	IGI IGI: Inferred from genetic interaction	8625410	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in actin filament	IDA IDA: Inferred from direct assay	8625410	GOA
located in cytosol	IDA IDA: Inferred from direct assay	8625410	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20574068	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	29925947	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

WAS Protein Structure

WH1

PBD

WH2

0
100
200
300
400
502 a.a.

Protein Preferred Names

Protein Names

actin nucleation-promoting factor WAS

wiskott-Aldrich syndrome protein

eczema-thrombocytopenia

WAS Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	WAS	P42768	espF(U)	Escherichia coli O157:H7	P0DJ89	Pull Down	18650809
Cross	WAS	P42768	espF(U)	Escherichia coli O157:H7	P0DJ89	NMR	18650809
Cross	WAS	P42768	espF(U)	Escherichia coli O157:H7	P0DJ89	GMS	18650809
Intra	WAS	P42768	SNX33	Homo sapiens	Q8WV41	Anti Tag CoIP	19487689
Intra	WAS	P42768	SORBS2	Homo sapiens	O94875	Y2H Prey Pooling	25416956
Intra	WAS	P42768	SORBS2	Homo sapiens	O94875	Y2H Array	25416956
Intra	WAS	P42768	HCK	Homo sapiens	P08631	Anti Bait CoIP	19234535
Intra	WAS	P42768	HCK	Homo sapiens	P08631	Pull Down	12029088
Intra	WAS	P42768	HCK	Homo sapiens	P08631	Pull Down	19234535
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H	21988832
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Anti Tag CoIP	19805221
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H	10202051
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Pull Down	10202051
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H	9405671
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Pull Down	9405671
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H	12591280
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Anti Tag CoIP	9405671
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H Prey Pooling	25416956
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Gal4 VP16 Complement	12591280
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Y2H	19817875
Intra	WAS	P42768	WIPF1	Homo sapiens	O43516	Pull Down	19817875
Cross	WAS	P42768	Hck	Mus musculus	P08103	Anti Tag CoIP	12235133
Intra	WAS	P42768	NCK2	Homo sapiens	O43639	Y2H Array	25416956
Intra	WAS	P42768	NCK2	Homo sapiens	O43639	Y2H Prey Pooling	25416956
Intra	WAS	P42768	UBASH3A	Homo sapiens	P57075-2	Validated Y2H	32296183
Intra	WAS	P42768	ABI3	Homo sapiens	Q9P2A4	Y2H Prey Pooling	25416956
Intra	WAS	P42768	ABI3	Homo sapiens	Q9P2A4	Y2H	21516116
Intra	WAS	P42768	ABI3	Homo sapiens	Q9P2A4	Validated Y2H	25416956
Intra	WAS	P42768	APPBP2	Homo sapiens	Q92624	Validated Y2H	25416956
Intra	WAS	P42768	SNX9	Homo sapiens	Q9Y5X1	Anti Tag CoIP	19487689
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	Y2H Pooling	20936779
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	CD	9660763
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	Pull Down	8625410
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	NMR	9660763
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	Far-WB	9422512
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	Fluorescence Spectr	15361624
Intra	WAS	P42768	CDC42	Homo sapiens	P60953	Fluorescence Spectr	9660763
Intra	WAS	P42768	TOP1	Homo sapiens	P11387	Anti Bait CoIP	29248492
Intra	WAS	P42768	TOP1	Homo sapiens	P11387	Anti Tag CoIP	29248492

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Thrombocytopenia 1

Xlt	THC1
Thrombocytopenia, X-Linked	Thrombocytopenia, X-Linked, Intermittent
X-Linked Thrombocytopenia	X-Linked Thrombocytopenia With Normal Platelets
Thc	Thrombocytopenia, X-Linked, 1
Thrombocytopenia X-Linked	Thrombocytopenia X-Linked 1

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia	XLN
SCNX	Severe Congenital Neutropenia X-Linked
Neutropenia, Congenital, Severe, X-Linked

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Neutropenia

Leukopenia

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

Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia	XLA
Bruton Type Agammaglobulinemia	Bruton'S Agammaglobulinemia
Bruton-Type Agammaglobulinemia	Agmx1
Imd1	Agammaglobulinemia, X-Linked 1
Btk-Deficiency	Agammaglobulinemia
Hypogammaglobulinemia	Agammaglobulinemia, X-Linked, Type 1
Immunodeficiency 1	Bruton Agammaglobulinemia Tyrosine Kinase Deficiency
Bruton Disease	Bruton'S Agammaglobulinaemia
Bruton'S Sex-Linked Agammaglobulinemia	Bruton'S Type Agammaglobulinemia
Btk Deficiency	Agammaglobulinemia, Btk
Agammaglobulinemia, Bruton Tyrosine Kinase	Congenital Agammaglobulinemia
Immunodeficiency Type 1	X-Linked Agammaglobulinemia Type 1

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency	Leukocyte Adhesion Deficiency 1
LAD1	Lad
Lymphocyte Function-Associated Antigen 1 Immunodeficiency	Leukocyte Adhesion Deficiency Type I
Leukocyte Adhesion Deficiency Type 1	Linear Iga Bullous Dermatosis
Linear Iga Dermatosis	Leukocyte-Adhesion Deficiency Syndrome
Lfa1 Immunodeficiency	Congenital Leukocyte Adherence Deficiency
Lad-I	Linear Iga Disease
Leukocyte Adhesion Deficiency Syndrome	Lad 1
Lfa 1 Immunodeficiency	Linear Immunoglobulin A Dermatosis
Leucocyte Adhesion Deficiency Type 1	Leukocyte Adhesion Molecule Deficiency Type 1

Aarskog-Scott Syndrome

Aarskog Syndrome	Faciogenital Dysplasia
Faciodigitogenital Syndrome	AAS
Fgdy	X-Linked Aarskog Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic 16	Aarskog Syndrome, X-Linked
Intellectual Developmental Disorder, X-Linked Syndromic 16	Greig'S Syndrome
Aarskog Scott Syndrome	Aarskog Disease
Scott Aarskog Syndrome	Facio-Digito-Genital Dysplasia
Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder	Aarskog-Scott Syndrome ) Syndrome

Coronin-1a Deficiency

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome	Fra
Familial Recurrent Arthritis	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
PAPAS	Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Immunodeficiency 40

Dock2 Deficiency	IMD40
Immunodeficiency, Type 40

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Blood Platelet Disease

Platelet Disorder	Blood Platelet Disorders
Thrombocytopathy	Platelet Dysfunction
Platelet Disorders	Qualitative Platelet Deficiency

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation	Severe Neonatal-Onset Encephalopathy With Microcephaly
Encephalopathy, Neonatal Severe	Neonatal Severe Encephalopathy Due To Mecp2 Mutations
Mecp2-Related Severe Neonatal Encephalopathy	Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
Severe Neonatal Encephalopathy Due To Mecp2 Mutations	ENS-MECP2
Encephalopathy, Neonatal, Severe

Granulomatous Disease, Chronic, X-Linked

CGDX	Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease	Cgd
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cdgx
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease	Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked	Granulomatous Disease, Chronic, X-Linked, Variant

Blood Coagulation Disease

Blood Coagulation Disorders	Coagulation Protein Disease
Inherited Blood Coagulation Disease	Postpartum Coagulation Defect
Postpartum Coagulation Defect With Delivery	Coagulation Protein Disorders
Puerperal Coagulopathy

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158239	MS181	Inhibitor	98.36%	Unkown
HY-RS15741	WAS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	WAS	VGNC	VGNC:58886
Macaca mulatta	WAS	VGNC	VGNC:78780
Bos taurus	WAS	VGNC	VGNC:107023
Felis catus	WAS	VGNC	VGNC:67001
Mus musculus	WAS	MGD	MGI:105059
Rattus norvegicus	WAS	RGD	RGD:1563567
Others	WAS	NCBI

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