• Gene id: 7429

Gene Summary

• Gene Symbol: VIL1   Gene   UCSC   Ensembl
• Aliases: D2S1471, VIL
• Gene name: villin 1
• Alternate names: villin-1,
• Gene location: 2q35 (218419122: 218453294)     Exons: 20     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb a
• OMIM: 600982

Protein Summary

• Protein general information: P09327  
  • Name: Villin 1
  • Length: 827  
  • Mass: 92695
  • Tissue specificity: Specifically expressed in epithelial cells. Major component of microvilli of intestinal epithelial cells and kidney proximal tubule cells. Expressed in canalicular microvilli of hepatocytes (at protein level). {ECO
• Sequence:

  MTKLSAQVKGSLNITTPGLQIWRIEAMQMVPVPSSTFGSFFDGDCYIILAIHKTASSLSYDIHYWIGQDSSLDEQ
  GAAAIYTTQMDDFLKGRAVQHREVQGNESEAFRGYFKQGLVIRKGGVASGMKHVETNSYDVQRLLHVKGKRNVVA
  GEVEMSWKSFNRGDVFLLDLGKLIIQWNGPESTRMERLRGMTLAKEIRDQERGGRTYVGVVDGENELASPKLMEV
  MNHVLGKRRELKAAVPDTVVEPALKAALKLYHVSDSEGNLVVREVATRPLTQDLLSHEDCYILDQGGLKIYVWKG
  KKANEQEKKGAMSHALNFIKAKQYPPSTQVEVQNDGAESAVFQQLFQKWTASNRTSGLGKTHTVGSVAKVEQVKF
  DATSMHVKPQVAAQQKMVDDGSGEVQVWRIENLELVPVDSKWLGHFYGGDCYLLLYTYLIGEKQHYLLYVWQGSQ
  ASQDEITASAYQAVILDQKYNGEPVQIRVPMGKEPPHLMSIFKGRMVVYQGGTSRTNNLETGPSTRLFQVQGTGA
  NNTKAFEVPARANFLNSNDVFVLKTQSCCYLWCGKGCSGDEREMAKMVADTISRTEKQVVVEGQEPANFWMALGG
  KAPYANTKRLQEENLVITPRLFECSNKTGRFLATEIPDFNQDDLEEDDVFLLDVWDQVFFWIGKHANEEEKKAAA
  TTAQEYLKTHPSGRDPETPIIVVKQGHEPPTFTGWFLAWDPFKWSNTKSYEDLKAELGNSRDWSQITAEVTSPKV
  DVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEKG
  LF

• Structural information:
  • Protein Domains: (761..82-)
    (/note="HP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00595"-)
  • Interpro: IPR029006  IPR007123  IPR036180  IPR030007  IPR007122   IPR003128  IPR036886  
  • Prosite: PS51089
  • PDB: 1UNC 3FG7
  • PDBsum: 1UNC 3FG7
  • STRING: ENSP00000248444
• Other Databases: GeneCards:  VIL1  Malacards:  VIL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051014	actin filament severing	IBA	biological process
GO:0030027	lamellipodium	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:2000392	regulation of lamellipodium morphogenesis	IBA	biological process
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0008154	actin polymerization or depolymerization	IBA	biological process
GO:0051693	actin filament capping	IDA	biological process
GO:0051693	actin filament capping	IDA	biological process
GO:0051693	actin filament capping	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0035727	lysophosphatidic acid binding	IDA	molecular function
GO:0032233	positive regulation of actin filament bundle assembly	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0030175	filopodium	IDA	cellular component
GO:0030041	actin filament polymerization	IDA	biological process
GO:0010634	positive regulation of epithelial cell migration	IDA	biological process
GO:0009617	response to bacterium	IDA	biological process
GO:0008360	regulation of cell shape	IDA	biological process
GO:0005902	microvillus	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0001726	ruffle	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0071364	cellular response to epidermal growth factor stimulus	IDA	biological process
GO:0060327	cytoplasmic actin-based contraction involved in cell motility	IDA	biological process
GO:0051125	regulation of actin nucleation	IDA	biological process
GO:0051125	regulation of actin nucleation	IDA	biological process
GO:0051125	regulation of actin nucleation	IDA	biological process
GO:0051014	actin filament severing	IDA	biological process
GO:0051014	actin filament severing	IDA	biological process
GO:0051014	actin filament severing	IDA	biological process
GO:0032432	actin filament bundle	IDA	cellular component
GO:0030042	actin filament depolymerization	IDA	biological process
GO:0030027	lamellipodium	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:2000392	regulation of lamellipodium morphogenesis	ISS	biological process
GO:0032433	filopodium tip	ISS	cellular component
GO:0061041	regulation of wound healing	ISS	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0045010	actin nucleation	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0051693	actin filament capping	IEA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0051014	actin filament severing	IEA	biological process
GO:0051693	actin filament capping	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0051014	actin filament severing	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005903	brush border	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IEA	molecular function
GO:0061041	regulation of wound healing	IEA	biological process
GO:1902896	terminal web assembly	IEA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:0001951	intestinal D-glucose absorption	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0032433	filopodium tip	IEA	cellular component
GO:0032532	regulation of microvillus length	IEA	biological process
GO:0035729	cellular response to hepatocyte growth factor stimulus	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:2000392	regulation of lamellipodium morphogenesis	IEA	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0032433	filopodium tip	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0030027	lamellipodium	IDA	cellular component
GO:2000394	positive regulation of lamellipodium morphogenesis	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IGI	biological process
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:2000394	positive regulation of lamellipodium morphogenesis	IGI	biological process
GO:0010634	positive regulation of epithelial cell migration	IMP	biological process
GO:0051016	barbed-end actin filament capping	IMP	biological process
GO:0005509	calcium ion binding	IMP	molecular function
GO:0030836	positive regulation of actin filament depolymerization	IMP	biological process
GO:0005903	brush border	ISS	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R