• Gene id: 8936

Gene Summary

• Gene Symbol: WASF1   Gene   UCSC   Ensembl
• Aliases: NEDALVS, SCAR1, WAVE, WAVE1
• Gene name: WASP family member 1
• Alternate names: wiskott-Aldrich syndrome protein family member 1, WAS protein family member 1, WASP family protein member 1, homology of dictyostelium scar 1, protein WAVE-1, verprolin homology domain-containing protein 1,
• Gene location: 6q21 (110180003: 110099818)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 605035

Protein Summary

• Protein general information: Q92558  
  • Name: Wiskott Aldrich syndrome protein family member 1 (WASP family protein member 1) (Protein WAVE 1) (Verprolin homology domain containing protein 1)
  • Length: 559  
  • Mass: 61652
  • Tissue specificity: Highly expressed in brain. Lowly expressed in testis, ovary, colon, kidney, pancreas, thymus, small intestine and peripheral blood.
• Sequence:

  MPLVKRNIDPRHLCHTALPRGIKNELECVTNISLANIIRQLSSLSKYAEDIFGELFNEAHSFSFRVNSLQERVDR
  LSVSVTQLDPKEEELSLQDITMRKAFRSSTIQDQQLFDRKTLPIPLQETYDVCEQPPPLNILTPYRDDGKEGLKF
  YTNPSYFFDLWKEKMLQDTEDKRKEKRKQKQKNLDRPHEPEKVPRAPHDRRREWQKLAQGPELAEDDANLLHKHI
  EVANGPASHFETRPQTYVDHMDGSYSLSALPFSQMSELLTRAEERVLVRPHEPPPPPPMHGAGDAKPIPTCISSA
  TGLIENRPQSPATGRTPVFVSPTPPPPPPPLPSALSTSSLRASMTSTPPPPVPPPPPPPATALQAPAVPPPPAPL
  QIAPGVLHPAPPPIAPPLVQPSPPVARAAPVCETVPVHPLPQGEVQGLPPPPPPPPLPPPGIRPSSPVTVTALAH
  PPSGLHPTPSTAPGPHVPLMPPSPPSQVIPASEPKRHPSTLPVISDARSVLLEAIRKGIQLRKVEEQREQEAKHE
  RIENDVATILSRRIAVEYSDSEDDSEFDEVDWLE

• Structural information:
  • Protein Domains: (497..51-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR028288  IPR003124  
  • Prosite: PS51082
  • PDB: 3P8C 4N78
  • PDBsum: 3P8C 4N78
  • DIP: 39391
  • STRING: ENSP00000376368
• Other Databases: GeneCards:  WASF1  Malacards:  WASF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0034237	protein kinase A regulatory subunit binding	IBA	molecular function
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IBA	biological process
GO:0030027	lamellipodium	IBA	cellular component
GO:0031209	SCAR complex	IBA	cellular component
GO:0071933	Arp2/3 complex binding	IBA	molecular function
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0070584	mitochondrion morphogenesis	IMP	biological process
GO:1990416	cellular response to brain-derived neurotrophic factor stimulus	ISS	biological process
GO:0072673	lamellipodium morphogenesis	IMP	biological process
GO:0006898	receptor-mediated endocytosis	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0065003	protein-containing complex assembly	NAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0030041	actin filament polymerization	TAS	biological process
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:1990416	cellular response to brain-derived neurotrophic factor stimulus	IEA	biological process
GO:0098885	modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0098939	dendritic transport of mitochondrion	IEA	biological process
GO:0097484	dendrite extension	IEA	biological process
GO:0072673	lamellipodium morphogenesis	IEA	biological process
GO:0051388	positive regulation of neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0031209	SCAR complex	IMP	cellular component
GO:0016601	Rac protein signal transduction	IMP	biological process
GO:0048365	Rac GTPase binding	IMP	contributes to
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051018	protein kinase A binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa05130	Pathogenic Escherichia coli infection
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa05100	Bacterial invasion of epithelial cells
hsa04520	Adherens junction

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)