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Aliases for AVIL Gene

Aliases for AVIL Gene

  • Advillin 2 3
  • P92 3 4
  • ADVIL 3
  • DOC6 3

External Ids for AVIL Gene

Previous GeneCards Identifiers for AVIL Gene

  • GC12M058334
  • GC12M057907
  • GC12M056477
  • GC12M058191
  • GC12M055228

Summaries for AVIL Gene

Entrez Gene Summary for AVIL Gene

  • 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 by RefSeq, Jul 2008]

GeneCards Summary for AVIL Gene

AVIL (Advillin) is a Protein Coding gene. Diseases associated with AVIL include lennox-gastaut syndrome. GO annotations related to this gene include actin binding. An important paralog of this gene is VIL1.

UniProtKB/Swiss-Prot for AVIL Gene

  • Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVIL Gene

Genomics for AVIL Gene

Regulatory Elements for AVIL Gene

Genomic Location for AVIL Gene

Start:
57,796,632 bp from pter
End:
57,818,704 bp from pter
Size:
22,073 bases
Orientation:
Minus strand

Genomic View for AVIL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AVIL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVIL Gene

Proteins for AVIL Gene

  • Protein details for AVIL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75366-AVIL_HUMAN
    Recommended name:
    Advillin
    Protein Accession:
    O75366
    Secondary Accessions:
    • B2RAU7
    • Q2NKM9

    Protein attributes for AVIL Gene

    Size:
    819 amino acids
    Molecular mass:
    92027 Da
    Quaternary structure:
    • Associates (via C-terminus) with actin. Interacts with SCARF1 (By similarity). Interacts with F-actin.

    Three dimensional structures from OCA and Proteopedia for AVIL Gene

    Alternative splice isoforms for AVIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVIL Gene

Proteomics data for AVIL Gene at MOPED

Post-translational modifications for AVIL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AVIL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AVIL Gene

Domains for AVIL Gene

Suggested Antigen Peptide Sequences for AVIL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75366

UniProtKB/Swiss-Prot:

AVIL_HUMAN :
  • O75366
Domain:
  • Contains 1 HP (headpiece) domain.
Family:
  • Belongs to the villin/gelsolin family.
Similarity:
  • Contains 6 gelsolin-like repeats.
genes like me logo Genes that share domains with AVIL: view

No data available for Gene Families for AVIL Gene

Function for AVIL Gene

Molecular function for AVIL Gene

UniProtKB/Swiss-Prot Function: Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis.

Gene Ontology (GO) - Molecular Function for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with AVIL: view
genes like me logo Genes that share phenotypes with AVIL: view

Animal Model Products

miRNA for AVIL Gene

miRTarBase miRNAs that target AVIL

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AVIL Gene

Localization for AVIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVIL Gene

Cytoplasm, cytoskeleton. Cell projection. Cell projection, axon.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AVIL Gene COMPARTMENTS Subcellular localization image for AVIL gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton TAS 9664034
GO:0030424 axon IEA --
GO:0042995 cell projection ISS --
GO:0043005 neuron projection ISS --
genes like me logo Genes that share ontologies with AVIL: view

Pathways for AVIL Gene

SuperPathways for AVIL Gene

No Data Available

Gene Ontology (GO) - Biological Process for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007399 nervous system development TAS 9664034
GO:0010976 positive regulation of neuron projection development ISS --
GO:0051693 actin filament capping IEA --
GO:0060271 cilium morphogenesis IMP 20393563
genes like me logo Genes that share ontologies with AVIL: view

No data available for Pathways by source for AVIL Gene

Transcripts for AVIL Gene

Unigene Clusters for AVIL Gene

Advillin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AVIL

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AVIL
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AVIL Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - -
SP2: - - - -
SP3: -
SP4:
SP5: -

ExUns: 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for AVIL Gene

GeneLoc Exon Structure for
AVIL
ECgene alternative splicing isoforms for
AVIL

Expression for AVIL Gene

mRNA expression in normal human tissues for AVIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AVIL Gene

SOURCE GeneReport for Unigene cluster for AVIL Gene Hs.584854

mRNA Expression by UniProt/SwissProt for AVIL Gene

O75366-AVIL_HUMAN
Tissue specificity: Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus.
genes like me logo Genes that share expressions with AVIL: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for AVIL Gene

Orthologs for AVIL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AVIL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AVIL 35
  • 99.35 (n)
  • 98.9 (a)
AVIL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AVIL 35
  • 89.83 (n)
  • 90.56 (a)
AVIL 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AVIL 35
  • 88.4 (n)
  • 90.2 (a)
AVIL 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Avil 35
  • 86.77 (n)
  • 89.5 (a)
Avil 16
Avil 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AVIL 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Avil 35
  • 86.45 (n)
  • 89.62 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 54 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia AVIL 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia avil 35
  • 70.09 (n)
  • 72.46 (a)
Str.5242 35
zebrafish
(Danio rerio)
Actinopterygii avil 35
  • 65.92 (n)
  • 64.81 (a)
avil 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gel 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A4.3 37
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons VLN2 35
  • 47.31 (n)
  • 37.59 (a)
rice
(Oryza sativa)
Liliopsida Os03g0356700 35
  • 46.21 (n)
  • 34.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for AVIL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AVIL Gene

ENSEMBL:
Gene Tree for AVIL (if available)
TreeFam:
Gene Tree for AVIL (if available)

Paralogs for AVIL Gene

Paralogs for AVIL Gene

Selected SIMAP similar genes for AVIL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AVIL: view

Variants for AVIL Gene

Sequence variations from dbSNP and Humsavar for AVIL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1021469 -- 57,814,381(-) GTTAA(C/T)CCTGT intron-variant
rs1047851 -- 57,806,401(-) TCTTT(A/C)TGCTG missense, reference
rs1389302 -- 57,811,721(-) CCACT(A/G)ACTGA intron-variant
rs2172521 - 57,810,500(-) GTGCT(A/G)AAATA reference, missense
rs2277325 -- 57,809,594(-) CTGGT(A/T)GGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AVIL Gene

Variant ID Type Subtype PubMed ID
nsv510601 CNV Loss 20534489
nsv470297 CNV Gain 18288195

Relevant External Links for AVIL Gene

HapMap Linkage Disequilibrium report
AVIL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVIL Gene

Disorders for AVIL Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for AVIL Gene including...

Search for AVIL Gene in MalaCards »

(1) University of Copenhagen DISEASES for AVIL Gene

genes like me logo Genes that share disorders with AVIL: view

No data available for UniProtKB/Swiss-Prot for AVIL Gene

Publications for AVIL Gene

  1. Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. (PMID: 9664034) Marks P.W. … Kwiatkowski D.J. (J. Cell Sci. 1998) 2 3 4 23
  2. Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements. (PMID: 15096633) Vermeulen W. … Borremans F.A. (Protein Sci. 2004) 3 4 23
  3. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). (PMID: 12034507) Tumer Z. … Schreiber S. (Gene 2002) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Functional genomic screen for modulators of ciliogenesis and cilium length. (PMID: 20393563) Kim J. … Gleeson J.G. (Nature 2010) 3 4

Products for AVIL Gene

Sources for AVIL Gene

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