WAS - WASP actin nucleation promoting factor Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7454

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	References	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	References	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	References	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

Protein Preferred Names

Protein Names

actin nucleation-promoting factor WAS

wiskott-Aldrich syndrome protein

eczema-thrombocytopenia

WAS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

WAS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82794	WAS Antibody (YA2539)	WB, ICC/IF, FC, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

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 Set	/	Unkown
HY-RS19871	Was Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26370	Was Rat Pre-designed siRNA Set A	Pre-designed Set	/	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