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Aliases for VIL1 Gene

Aliases for VIL1 Gene

  • Villin 1 2 3 5
  • VIL 3 4
  • Villin-1 3
  • D2S1471 3

External Ids for VIL1 Gene

Previous HGNC Symbols for VIL1 Gene

  • VIL

Previous GeneCards Identifiers for VIL1 Gene

  • GC02P217304
  • GC02P218009
  • GC02P219247
  • GC02P219491
  • GC02P219113
  • GC02P218992
  • GC02P219285
  • GC02P211136

Summaries for VIL1 Gene

Entrez Gene Summary for VIL1 Gene

  • 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 and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]

GeneCards Summary for VIL1 Gene

VIL1 (Villin 1) is a Protein Coding gene. Diseases associated with VIL1 include Microvillus Inclusion Disease and Large Cell Neuroendocrine Carcinoma. Among its related pathways are Cytoskeletal Signaling and Regulation of actin cytoskeleton. GO annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is AVIL.

UniProtKB/Swiss-Prot for VIL1 Gene

  • Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VIL1 Gene

Genomics for VIL1 Gene

Regulatory Elements for VIL1 Gene

Enhancers for VIL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G218466 0.6 ENCODE 12.9 +47.1 47111 0.1 CTCF SMC3 REST KLF4 RAD21 EZH2 FOXA1 VIL1 AAMP SLC11A1 PLCD4 BCS1L ZNF142 RNF25 GPBAR1 RN7SKP38
GH02G218417 1.1 ENCODE 0.7 +1.3 1265 5.9 PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 FOS CNOT9 USP37 TTLL4 VIL1 RN7SKP38
GH02G218412 1 Ensembl 0.4 -6.1 -6092 0.4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 ZNF143 VIL1 MIR26B
GH02G218443 1.1 ENCODE 0.3 +26.7 26744 4.1 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 CNOT9 PLCD4 RETREG2 USP37 VIL1 RN7SKP38
GH02G218449 0.9 ENCODE 0.3 +30.0 30041 0.2 FOXA2 ATF1 ARID4B FOS SP5 ZNF579 SSRP1 ATF4 RCOR2 ETV4 CNOT9 USP37 PLCD4 VIL1 RN7SKP38
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VIL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for VIL1 Gene

Chromosome:
2
Start:
218,419,092 bp from pter
End:
218,453,295 bp from pter
Size:
34,204 bases
Orientation:
Plus strand

Genomic View for VIL1 Gene

Genes around VIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VIL1 Gene

Proteins for VIL1 Gene

  • Protein details for VIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09327-VILI_HUMAN
    Recommended name:
    Villin-1
    Protein Accession:
    P09327
    Secondary Accessions:
    • B2R9A7
    • Q53S11
    • Q96AC8

    Protein attributes for VIL1 Gene

    Size:
    827 amino acids
    Molecular mass:
    92695 Da
    Quaternary structure:
    • Monomer. Homodimer; homodimerization is necessary for actin-bundling. Associates with F-actin; phosphorylation at tyrosine residues decreases the association with F-actin. Interacts (phosphorylated at C-terminus tyrosine phosphorylation sites) with PLCG1 (via the SH2 domains). Interacts (phosphorylated form) with PLCG1; the interaction is enhanced by hepatocyte growth factor (HGF) (By similarity).

    Three dimensional structures from OCA and Proteopedia for VIL1 Gene

    Alternative splice isoforms for VIL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VIL1 Gene

Post-translational modifications for VIL1 Gene

  • Tyrosine phosphorylation is induced by epidermal growth factor (EGF) and stimulates cell migration (By similarity). Phosphorylated on tyrosine residues by SRC. The unphosphorylated form increases the initial rate of actin-nucleating activity, whereas the tyrosine-phosphorlyated form inhibits actin-nucleating activity, enhances actin-bundling activity and enhances actin-severing activity by reducing high Ca(2+) requirements. The tyrosine-phosphorlyated form does not regulate actin-capping activity. Tyrosine phosphorylation is essential for cell migration: tyrosine phosphorylation sites in the N-terminus half regulate actin reorganization and cell morphology, whereas tyrosine phosphorylation sites in the C-terminus half regulate cell migration via interaction with PLCG1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VIL1 Gene

No data available for DME Specific Peptides for VIL1 Gene

Domains & Families for VIL1 Gene

Gene Families for VIL1 Gene

Suggested Antigen Peptide Sequences for VIL1 Gene

Graphical View of Domain Structure for InterPro Entry

P09327

UniProtKB/Swiss-Prot:

VILI_HUMAN :
  • Consists of a large core fragment in the N-terminal portion and a small headpiece (HP) in the C-terminal portion. The core fragment is necessary for both actin-nucleating and -severing activities, whereas the HP binds F-actin strongly in both the presence and absence of calcium and is necessary in actin-bundling activity. The Gelsolin-like 1 repeat is necessary for the actin-capping activity. The entire core fragment is necessary for the actin-severing activity. Two major calcium-sensitive sites are involved in conformational changes and determine separate functional properties: the first site (Glu-25, Asp-44 and Glu-74) regulates the actin-capping and actin-severing activities; while the second site (Asp-61, Asp-86 and Ala-93) regulates only the actin-severing activity.
  • Belongs to the villin/gelsolin family.
Domain:
  • Consists of a large core fragment in the N-terminal portion and a small headpiece (HP) in the C-terminal portion. The core fragment is necessary for both actin-nucleating and -severing activities, whereas the HP binds F-actin strongly in both the presence and absence of calcium and is necessary in actin-bundling activity. The Gelsolin-like 1 repeat is necessary for the actin-capping activity. The entire core fragment is necessary for the actin-severing activity. Two major calcium-sensitive sites are involved in conformational changes and determine separate functional properties: the first site (Glu-25, Asp-44 and Glu-74) regulates the actin-capping and actin-severing activities; while the second site (Asp-61, Asp-86 and Ala-93) regulates only the actin-severing activity.
Family:
  • Belongs to the villin/gelsolin family.
genes like me logo Genes that share domains with VIL1: view

Function for VIL1 Gene

Molecular function for VIL1 Gene

GENATLAS Biochemistry:
villin 1 (95kDa),component of intestinal brush border cytoskeleton,actin binding protein
UniProtKB/Swiss-Prot Function:
Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination.

Gene Ontology (GO) - Molecular Function for VIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005509 calcium ion binding IEA,IMP 15272027
GO:0005515 protein binding IPI 16921170
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA,IEA 14594952
GO:0035727 lysophosphatidic acid binding IDA 19808673
genes like me logo Genes that share ontologies with VIL1: view
genes like me logo Genes that share phenotypes with VIL1: view

Animal Models for VIL1 Gene

MGI Knock Outs for VIL1:

Animal Model Products

miRNA for VIL1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VIL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VIL1 Gene

Localization for VIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VIL1 Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cell projection, microvillus. Cell projection, filopodium tip. Cell projection, filopodium. Note=Relocalized in the tip of cellular protrusions and filipodial extensions upon infection with S.flexneri in primary intestinal epithelial cells (IEC) and in the tail-like structures forming the actin comets of S.flexneri. Redistributed to the leading edge of hepatocyte growth factor (HGF)-induced lamellipodia (By similarity). Rapidly redistributed to ruffles and lamellipodia structures in response to autotaxin, lysophosphatidic acid (LPA) and epidermal growth factor (EGF) treatment. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VIL1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 4
mitochondrion 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 15342783
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with VIL1: view

Pathways & Interactions for VIL1 Gene

genes like me logo Genes that share pathways with VIL1: view

Pathways by source for VIL1 Gene

1 Cell Signaling Technology pathway for VIL1 Gene
1 BioSystems pathway for VIL1 Gene

SIGNOR curated interactions for VIL1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001951 intestinal D-glucose absorption IEA --
GO:0006461 protein complex assembly TAS 2846586
GO:0006915 apoptotic process IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0007173 epidermal growth factor receptor signaling pathway IDA 17229814
genes like me logo Genes that share ontologies with VIL1: view

Drugs & Compounds for VIL1 Gene

(1) Drugs for VIL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with VIL1: view

Transcripts for VIL1 Gene

Unigene Clusters for VIL1 Gene

Villin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VIL1

Alternative Splicing Database (ASD) splice patterns (SP) for VIL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20
SP1: - -
SP2:
SP3: - - - -
SP4:
SP5: -

Relevant External Links for VIL1 Gene

GeneLoc Exon Structure for
VIL1
ECgene alternative splicing isoforms for
VIL1

Expression for VIL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VIL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VIL1 Gene

This gene is overexpressed in Colon - Transverse (x23.5) and Small Intestine - Terminal Ileum (x19.6).

Protein differential expression in normal tissues from HIPED for VIL1 Gene

This gene is overexpressed in Fetal gut (34.6), Rectum (6.5), and Pancreatic juice (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VIL1 Gene



Protein tissue co-expression partners for VIL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VIL1 Gene:

VIL1

SOURCE GeneReport for Unigene cluster for VIL1 Gene:

Hs.654595

mRNA Expression by UniProt/SwissProt for VIL1 Gene:

P09327-VILI_HUMAN
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).

Evidence on tissue expression from TISSUES for VIL1 Gene

  • Intestine(4.8)
  • Kidney(4.5)
  • Liver(4.5)
  • Gall bladder(2.4)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with VIL1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VIL1 Gene

Orthologs for VIL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VIL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VIL1 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia VIL1 34 35
  • 89.08 (n)
dog
(Canis familiaris)
Mammalia VIL1 34 35
  • 87.42 (n)
rat
(Rattus norvegicus)
Mammalia Vil1 34
  • 87.14 (n)
mouse
(Mus musculus)
Mammalia Vil1 34 16 35
  • 86.66 (n)
oppossum
(Monodelphis domestica)
Mammalia VIL1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves VIL1 34 35
  • 72.2 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 72 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vil1 34
  • 69.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia vil1-prov 34
zebrafish
(Danio rerio)
Actinopterygii vil1 34 35
  • 65.73 (n)
zgc55779 34
fruit fly
(Drosophila melanogaster)
Insecta Gel 36
  • 35 (a)
qua 36
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A4.3 36
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57320 34
  • 46.53 (n)
rice
(Oryza sativa)
Liliopsida Os08g0240800 34
  • 46.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for VIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 VIL1 Gene

ENSEMBL:
Gene Tree for VIL1 (if available)
TreeFam:
Gene Tree for VIL1 (if available)

Paralogs for VIL1 Gene

Paralogs for VIL1 Gene

(9) SIMAP similar genes for VIL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with VIL1: view

Variants for VIL1 Gene

Sequence variations from dbSNP and Humsavar for VIL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000036599 -- 218,441,314(+) AACCC(A/G)GGAGG intron-variant
rs1000394660 -- 218,429,037(+) TCAGA(A/G)CAGAA intron-variant
rs1000562791 -- 218,425,141(+) AATGG(C/T)ACAAT intron-variant
rs1000754252 -- 218,430,118(+) GAGGG(G/T)CCTGA intron-variant
rs1000785305 -- 218,430,428(+) TAGGC(A/G)TTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VIL1 Gene

Variant ID Type Subtype PubMed ID
esv1009419 CNV deletion 20482838
esv2667151 CNV deletion 23128226
esv3594338 CNV loss 21293372
esv3594339 CNV loss 21293372
esv3594340 CNV gain 21293372
nsv954837 CNV deletion 24416366

Variation tolerance for VIL1 Gene

Residual Variation Intolerance Score: 64.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VIL1 Gene

Human Gene Mutation Database (HGMD)
VIL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VIL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VIL1 Gene

Disorders for VIL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for VIL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
microvillus inclusion disease
  • diarrhea 2, with microvillus atrophy
large cell neuroendocrine carcinoma
dacryoadenitis
  • dacryocystitis
cervical adenocarcinoma
  • adenocarcinoma cervix uteri
diabetes mellitus, insulin-dependent, 13
  • type 1 diabetes mellitus 13
- elite association - COSMIC cancer census association via MalaCards
Search VIL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VILI_HUMAN
  • Note=Biliary atresia is a chronic and progressive cholestatic liver disease of chilhood characterized by an abnormal villin gene expression and severe malformation of canalicular microvillus structure.

Relevant External Links for VIL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VIL1
genes like me logo Genes that share disorders with VIL1: view

No data available for Genatlas for VIL1 Gene

Publications for VIL1 Gene

  1. Sequence of human villin: a large duplicated domain homologous with other actin-severing proteins and a unique small carboxy-terminal domain related to villin specificity. (PMID: 2846586) Arpin M. … van de Kerckhove B. (J. Cell Biol. 1988) 2 3 4 64
  2. Differential effects of lysophosphatidic acid and phosphatidylinositol 4,5-bisphosphate on actin dynamics by direct association with the actin-binding protein villin. (PMID: 19808673) Tomar A. … Khurana S. (J. Biol. Chem. 2009) 3 4 64
  3. Autotaxin and lysophosphatidic acid stimulate intestinal cell motility by redistribution of the actin modifying protein villin to the developing lamellipodia. (PMID: 18054784) Khurana S. … Mathew S. (Exp. Cell Res. 2008) 3 4 64
  4. Villin severing activity enhances actin-based motility in vivo. (PMID: 17182858) Revenu C. … Robine S. (Mol. Biol. Cell 2007) 3 4 64
  5. Obligatory role for phospholipase C-gamma(1) in villin-induced epithelial cell migration. (PMID: 17229814) Wang Y. … Khurana S. (Am. J. Physiol. 2007) 3 4 64

Products for VIL1 Gene

Sources for VIL1 Gene

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