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Aliases for VIL1 Gene

Aliases for VIL1 Gene

  • Villin 1 2 3 5
  • VIL 3 4
  • 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 Large Cell Neuroendocrine Carcinoma and Microvillus Inclusion Disease. Among its related pathways are Regulation of actin cytoskeleton and Cytoskeletal Signaling. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VIL1 on UCSC Golden Path with GeneCards custom track

Promoters for VIL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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 tyrosines 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

Proteomics data for VIL1 Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VIL1 (Villin)

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.
  • Contains 6 gelsolin-like repeats.
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.
  • 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 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:0042803 protein homodimerization activity IDA 17606613
GO:0051015 actin filament binding IEA,IDA 11500485
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

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
Jensen Localization Image for VIL1 Gene COMPARTMENTS Subcellular localization image for VIL1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for VIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032433 filopodium tip ISS --
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:0006461 protein complex assembly TAS 2846586
GO:0007010 cytoskeleton organization IEA --
GO:0009617 response to bacterium IDA 17182858
GO:0030042 actin filament depolymerization IDA 11500485
GO:0030855 epithelial cell differentiation IEP 21492153
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:

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 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, MOPED, and MaxQB for VIL1 Gene



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).
genes like me logo Genes that share expression patterns with VIL1: view

Protein tissue co-expression partners for VIL1 Gene

- Elite partner

Primer Products

Orthologs for VIL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VIL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VIL1 35
  • 89.08 (n)
  • 89.72 (a)
VIL1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VIL1 35
  • 87.42 (n)
  • 88.51 (a)
VIL1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vil1 35
  • 86.66 (n)
  • 90.08 (a)
Vil1 16
Vil1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VIL1 35
  • 99.44 (n)
  • 99.64 (a)
VIL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vil1 35
  • 87.14 (n)
  • 89.96 (a)
oppossum
(Monodelphis domestica)
Mammalia VIL1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves VIL1 35
  • 72.2 (n)
  • 71.43 (a)
VIL1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vil1 35
  • 69.13 (n)
  • 69.05 (a)
African clawed frog
(Xenopus laevis)
Amphibia vil1-prov 35
zebrafish
(Danio rerio)
Actinopterygii vil1 35
  • 65.73 (n)
  • 65.93 (a)
zgc55779 35
vil1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gel 37
  • 35 (a)
qua 37
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A4.3 37
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57320 35
  • 46.53 (n)
  • 35.92 (a)
rice
(Oryza sativa)
Liliopsida Os08g0240800 35
  • 46.5 (n)
  • 35.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for VIL1:
  • 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
rs35305540 - 218,429,478(+) ACTCA(A/G)ACTGT reference, missense
rs733925 -- 218,437,743(+) TAAAG(A/G)ACTGA intron-variant
rs1563599 -- 218,437,729(+) AAACA(C/T)GTTGG intron-variant
rs1000879 -- 218,439,407(-) AACTA(C/T)ATGAA intron-variant
rs2004348 -- 218,424,663(+) ttttt(A/T)aaatt intron-variant

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

Variant ID Type Subtype PubMed ID
esv2667151 CNV Deletion 23128226
esv1009419 CNV Deletion 20482838

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

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

Disorders for VIL1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
large cell neuroendocrine carcinoma
microvillus inclusion disease
  • diarrhea with microvillus atrophy 2
dacryoadenitis
  • dacryocystitis
ovarian mucinous adenocarcinoma
  • mucinous carcinoma of ovary
contagious pustular dermatitis
  • ecthyma contagiosum
- 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 67
  2. Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease. (PMID: 25517957) Shillingford N.M. … Kozakewich H.P. (Am. J. Surg. Pathol. 2015) 3
  3. Apical invasion of intestinal epithelial cells by Salmonella typhimurium requires villin to remodel the brush border actin cytoskeleton. (PMID: 25600187) Lhocine N. … Sansonetti P.J. (Cell Host Microbe 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. BAI3, CDX2 and VIL1: a panel of three antibodies to distinguish small cell from large cell neuroendocrine lung carcinomas. (PMID: 24266897) Bari M.F. … Snead D.R. (Histopathology 2014) 3

Products for VIL1 Gene

Sources for VIL1 Gene

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