• Gene id: 10677

Gene Summary

• Gene Symbol: AVIL   Gene   UCSC   Ensembl
• Aliases: ADVIL, DOC6, NPHS21, p92
• Gene name: advillin
• Alternate names: advillin,
• Gene location: 12q14.1 (57818703: 57797375)     Exons: 21     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided
• OMIM: 602801

Protein Summary

• Protein general information: O75366  
  • Name: Advillin (p92)
  • Length: 819  
  • Mass: 92027
  • Tissue specificity: Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus (PubMed
• Sequence:

  MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYVILSTRRVASLLSQDIHFWIGKDSSQDEQSCA
  AIYTTQLDDYLGGSPVQHREVQYHESDTFRGYFKQGIIYKQGGVASGMKHVETNTYDVKRLLHVKGKRNIRATEV
  EMSWDSFNRGDVFLLDLGKVIIQWNGPESNSGERLKAMLLAKDIRDRERGGRAKIGVIEGDKEAASPELMKVLQD
  TLGRRSIIKPTVPDEIIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDLLNHDDCYILDQSGTKIYVWKGKGA
  TKAEKQAAMSKALGFIKMKSYPSSTNVETVNDGAESAMFKQLFQKWSVKDQTMGLGKTFSIGKIAKVFQDKFDVT
  LLHTKPEVAAQERMVDDGNGKVEVWRIENLELVPVEYQWYGFFYGGDCYLVLYTYEVNGKPHHILYIWQGRHASQ
  DELAASAYQAVEVDRQFDGAAVQVRVRMGTEPRHFMAIFKGKLVIFEGGTSRKGNAEPDPPVRLFQIHGNDKSNT
  KAVEVPAFASSLNSNDVFLLRTQAEHYLWYGKGSSGDERAMAKELASLLCDGSENTVAEGQEPAEFWDLLGGKTP
  YANDKRLQQEILDVQSRLFECSNKTGQFVVTEITDFTQDDLNPTDVMLLDTWDQVFLWIGAEANATEKESALATA
  QQYLHTHPSGRDPDTPILIIKQGFEPPIFTGWFLAWDPNIWSAGKTYEQLKEELGDAAAIMRITADMKNATLSLN
  SNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRGQFAALPGWKQLQMKKEKGLF

• Structural information:
  • Protein Domains: (753..81-)
    (/note="HP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00595"-)
  • Interpro: IPR029006  IPR007123  IPR036180  IPR007122  IPR003128   IPR036886  
  • Prosite: PS51089
  • PDB: 1UND
  • PDBsum: 1UND
  • STRING: ENSP00000257861
• Other Databases: GeneCards:  AVIL  Malacards:  AVIL

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0051014	actin filament severing	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0005884	actin filament	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0071933	Arp2/3 complex binding	IDA	molecular function
GO:0007015	actin filament organization	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0042995	cell projection	ISS	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:1900480	regulation of diacylglycerol biosynthetic process	IMP	biological process
GO:0010592	positive regulation of lamellipodium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0051693	actin filament capping	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component

Diseases

Associated diseases	References
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