• Gene id: 10810

Gene Summary

• Gene Symbol: WASF3   Gene   UCSC   Ensembl
• Aliases: Brush-1, SCAR3, WAVE3
• Gene name: WASP family member 3
• Alternate names: wiskott-Aldrich syndrome protein family member 3, WAS protein family member 3, WASP family Verprolin-homologous protein 3, protein WAVE-3, verprolin homology domain-containing protein 3,
• Gene location: 13q12.13 (26539138: 26688947)     Exons: 14     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all
• OMIM: 605068

Protein Summary

• Protein general information: Q9UPY6  
  • Name: Wiskott Aldrich syndrome protein family member 3 (WASP family protein member 3) (Protein WAVE 3) (Verprolin homology domain containing protein 3)
  • Length: 502  
  • Mass: 55293
  • Tissue specificity: Expressed in ovary and brain.
• Sequence:

  MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDR
  LAVKVTQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKNSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKF
  YTDPSYFFDLWKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVY
  HGASSEGSLSPDTRSHASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNR
  PQQPPPPPPPQAPEGSQASAPMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASA
  SSTHAAPPHPPSTGLLVTAPPPPGPPPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRM
  GIQLKKVQEQREQEAKREPVGNDVATILSRRIAVEYSDSDDDSEFDENDWSD

• Structural information:
  • Protein Domains: (440..45-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR028288  IPR003124  
  • Prosite: PS51082
  • DIP: 61425
  • STRING: ENSP00000335055
• Other Databases: GeneCards:  WASF3  Malacards:  WASF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IBA	biological process
GO:0034237	protein kinase A regulatory subunit binding	IBA	molecular function
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0071933	Arp2/3 complex binding	IBA	molecular function
GO:0031209	SCAR complex	IBA	cellular component
GO:0030027	lamellipodium	IBA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0030041	actin filament polymerization	TAS	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098885	modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0030032	lamellipodium assembly	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa04520	Adherens junction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray