• Gene id: 7454

Gene Summary

• Gene Symbol: WAS   Gene   UCSC   Ensembl
• Aliases: IMD2, SCNX, THC, THC1, WASP, WASPA
• Gene name: WASP actin nucleation promoting factor
• Alternate names: wiskott-Aldrich syndrome protein, eczema-thrombocytopenia, thrombocytopenia 1 (X-linked),
• Gene location: Xp11.23 (48683752: 48691426)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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 th
• OMIM: 300543

Protein Summary

• Protein general information: P42768  
  • Name: Wiskott Aldrich syndrome protein (WASp)
  • Length: 502  
  • Mass: 52913
  • Tissue specificity: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. {ECO
• Sequence:

  MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPGAEHWTKEHCGAVCFV
  KDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGDDCQAGLNFADEDEAQAFRALVQEKIQKRNQ
  RQSGDRRQLPPPPTPANEERRGGLPPLPLHPGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADK
  KRSGKKKISKADIGAPSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL
  EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPPPPGRGGPPPPPPPAT
  GRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALVPAGGLAPGGGRGALLDQIRQGIQLNKTPGA
  PESSALQPPPQSSEGLVGALMHVMQKRSRAIHSSDEGEDQAGDEDEDDEWDD

• Structural information:
  • Protein Domains: (39..14-)
    (/note="WH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00410-)
    (238..25-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057-)
    (430..44-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR000095  IPR036936  IPR011993  IPR027641  IPR011026   IPR033927  IPR000697  IPR003124  
  • Prosite: PS50108 PS50229 PS51082
  • CDD: cd01205
  • PDB: 1CEE 1EJ5 1T84 2A3Z 2K42 2OT0
  • PDBsum: 1CEE 1EJ5 1T84 2A3Z 2K42 2OT0
  • DIP: 431
  • STRING: ENSP00000365891
• Other Databases: GeneCards:  WAS  Malacards:  WAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006955	immune response	IMP	biological process
GO:0002625	regulation of T cell antigen processing and presentation	IMP	biological process
GO:2000146	negative regulation of cell motility	IMP	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0030048	actin filament-based movement	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005884	actin filament	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0051127	positive regulation of actin nucleation	IBA	biological process
GO:0051666	actin cortical patch localization	IBA	biological process
GO:0030041	actin filament polymerization	IDA	biological process
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IDA	NOT|biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030695	GTPase regulator activity	TAS	molecular function
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006952	defense response	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008154	actin polymerization or depolymerization	TAS	biological process
GO:0008544	epidermis development	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0042110	T cell activation	IEA	biological process
GO:0030048	actin filament-based movement	IEA	biological process
GO:0030041	actin filament polymerization	IEA	biological process
GO:0012506	vesicle membrane	IEA	cellular component
GO:0008154	actin polymerization or depolymerization	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0016197	endosomal transport	IEA	biological process
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0043274	phospholipase binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0007266	Rho protein signal transduction	IMP	NOT|biological process
GO:0008064	regulation of actin polymerization or depolymerization	IMP	biological process
GO:0010591	regulation of lamellipodium assembly	IGI	biological process
GO:0010591	regulation of lamellipodium assembly	IGI	biological process
GO:0051492	regulation of stress fiber assembly	IGI	biological process
GO:0051492	regulation of stress fiber assembly	IGI	biological process
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0032488	Cdc42 protein signal transduction	IMP	biological process
GO:0005884	actin filament	IDA	cellular component
GO:0048365	Rac GTPase binding	IPI	molecular function
GO:0031267	small GTPase binding	IPI	molecular function
GO:0031267	small GTPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04062	Chemokine signaling pathway
hsa04530	Tight junction
hsa05135	Yersinia infection
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa04520	Adherens junction

Diseases

Associated diseases	References
Thrombocytopenia	KEGG:H00978
Other well-defined immunodeficiency syndromes	KEGG:H00107
Neutropenic disorders	KEGG:H00100
Wiskott-Aldrich syndrome	KEGG:H01523
Thrombocytopenia	KEGG:H00978
Other well-defined immunodeficiency syndromes	KEGG:H00107
Neutropenic disorders	KEGG:H00100
Wiskott-Aldrich syndrome	KEGG:H01523
Wiskott-Aldrich syndrome	PMID:8069912
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881