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VIL1 Gene

protein-coding   GIFtS: 60
GCID: GC02P219285

Villin 1


(Previous symbol: VIL)
  See VIL1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Villin 11 2
VIL1 2 3
D2S14712
villin-12

External Ids:    HGNC: 126901   Entrez Gene: 74292   Ensembl: ENSG000001278317   OMIM: 1930405   UniProtKB: P093273   

Export aliases for VIL1 gene to outside databases

Previous GC identifers: GC02P217304 GC02P218009 GC02P219247 GC02P219491 GC02P219113 GC02P218992 GC02P211136


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cholestasis, progressive canalicular. GO annotations related to this gene include identical protein binding and calcium ion binding. An important paralog of this gene is SVIL.

UniProtKB/Swiss-Prot: VILI_HUMAN, P09327
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the VIL1 gene promoter:
         E2F-4   E2F-3a   E2F-5   GATA-3   AP-4   E2F-2   CUTL1   Evi-1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVIL1 promoter sequence
   Search Chromatin IP Primers for VIL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VIL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

VIL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VIL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P219285:  view genomic region     (about GC identifiers)

Start:
219,283,815 bp from pter      End:
219,318,018 bp from pter
Size:
34,204 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VILI_HUMAN, P09327 (See protein sequence)
Recommended Name: Villin-1  
Size: 827 amino acids; 92695 Da
Subunit: 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)
2 PDB 3D structures from and Proteopedia for VIL1:
1UNC (3D)        3FG7 (3D)    
Secondary accessions: B2R9A7

Explore the universe of human proteins at neXtProt for VIL1: NX_P09327

Explore proteomics data for VIL1 at MOPED

Post-translational modifications: 

  • 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 PLCG11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See VIL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009058.2  
    ENSEMBL proteins: 
     ENSP00000248444   ENSP00000412657   ENSP00000375962   ENSP00000409270   ENSP00000394030  

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    Search eBioscience for ELISAs for VIL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR007122 Villin/Gelsolin
     IPR003128 Villin_headpiece
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry P09327

    ProtoNet protein and cluster: P09327

    3 Blocks protein domains:
    IPB003128 Villin headpiece
    IPB007122 Gelsolin family signature
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: VILI_HUMAN, P09327
    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
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 6 gelsolin-like repeats
    Similarity: Contains 1 HP (headpiece) domain


    Find genes that share domains with VIL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VILI_HUMAN, P09327
    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

         Genatlas biochemistry entry for VIL1:
    villin 1 (95kDa),component of intestinal brush border cytoskeleton,actin binding protein

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005509calcium ion binding IDA11500485
    GO:0005515protein binding IPI16921170
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA14594952
    GO:0035727lysophosphatidic acid binding IDA19808673
         
    Find genes that share ontologies with VIL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for VIL1:
     Decreased focal adhesion (FA)  

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vil1):
     homeostasis/metabolism  normal 

    Find genes that share phenotypes with VIL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Vil1tm1Syr for VIL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VIL1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VIL1

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    1 qRT-PCR Assays for microRNA that regulate VIL1:
    hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidVIL1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VILI_HUMAN, P09327: Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cell
    projection, microvillus. Cell projection, filopodium tip (By similarity). Cell projection, filopodium (By
    similarity). 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    mitochondrion3
    nucleus2
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA15342783
    GO:0005737cytoplasm IEA--
    GO:0005902microvillus IDA17182858
    GO:0030027lamellipodium IDA16921170
    GO:0030175filopodium IDA15342783

    Find genes that share ontologies with VIL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VIL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    2Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with VIL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for VIL1
        Cytoskeletal Signaling

    1 BioSystems Pathway for VIL1
        Regulation of Actin Cytoskeleton


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VIL1
    Interactions:

        GeneGlobe Interaction Network for VIL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for VIL1 (P093271, 2, 3 ENSP000002484444) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TEX11Q8IYF32, 3, ENSP000003409954MINT-66955 I2D: score=4 STRING: ENSP00000340995
    PLCG1P191741, 3, ENSP000002440074EBI-1047253,EBI-79387 I2D: score=1 STRING: ENSP00000244007
    PPM1BO756883, ENSP000002824124I2D: score=2 STRING: ENSP00000282412
    ACTN4O437073, ENSP000002526994I2D: score=1 STRING: ENSP00000252699
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS2846586
    GO:0007010cytoskeleton organization ----
    GO:0007173epidermal growth factor receptor signaling pathway IDA17229814
    GO:0008360regulation of cell shape IDA16921170
    GO:0009617response to bacterium IDA17182858

    Find genes that share ontologies with VIL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VIL1 (VILI)

    1 HMDB Compound for VIL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VIL1 gene: 
    NM_007127.2  

    Unigene Cluster for VIL1:

    Villin 1
    Hs.654595  [show with all ESTs]
    Unigene Representative Sequence: NM_007127
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248444(uc002via.3 uc010zke.2 uc002vib.3) ENST00000454069
    ENST00000392114 ENST00000440053(uc002vic.1) ENST00000419986
    miRNA
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    Additional mRNA sequence: 

    AK223398.1 AK300965.1 AK313709.1 BC017303.2 X04657.1 X12901.1 

    8 DOTS entries:

    DT.86839119  DT.416827  DT.95360700  DT.92429189  DT.95366402  DT.100788777  DT.40106351  DT.102823347 

    Selected AceView cDNA sequences (see all 125):

    BM825177 BM823478 AW139085 AA527320 BE463508 AA876039 AA502293 AW273255 
    AI673503 AI910841 BM852368 BX483099 AA887782 AI304462 AA128234 CB133386 
    AA305307 N74218 BM783461 AI699588 BC017303 BF197572 CA429743 AI318375 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for VIL1    About this scheme

    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:                          -                                                                                                                           


    ECgene alternative splicing isoforms for VIL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VIL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAACGAGGA
    VIL1 Expression
    About this image


    VIL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Hypoblast (Extraembryonic Tissues)
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Yolk Sac (Extraembryonic Tissues)
             Extraembryonic Endoderm Cells Extraembryonic Endoderm
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
    VIL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VIL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654595

    UniProtKB/Swiss-Prot: VILI_HUMAN, P09327
    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)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VIL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VIL1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vil11 , 5 villin 11, 5 86.66(n)1
    90.08(a)1
      1 (38.54 cM)5
    223491  NM_009509.21  NP_033535.21 
     744093765 
    chicken
    (Gallus gallus)
    Aves VIL11 villin 1 72.2(n)
    71.43(a)
      396423  NM_205442.1  NP_990773.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    72(a)
    71(a)
    1 ↔ many
    1 ↔ many
    AAWZ02040319(3-6085)
    1(88508323-88543051)
    African clawed frog
    (Xenopus laevis)
    Amphibia vil1-prov2 villin 1 75.82(n)    BC054960.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557792 hypothetical protein MGC55779 73.83(n)   393207  BC047186.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G573201 AT5G57320 46.53(n)
    35.92(a)
      835837  NM_125114.1  NP_200542.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g02408001 Os08g0240800 46.5(n)
    35.58(a)
      4345036  NM_001067870.1  NP_001061335.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VIL1 gene
    SVIL2  FLII2  VILL2  AVIL2  SCIN2  GSN2  CAPG2  
    9 SIMAP similar genes for VIL1 using alignment to 6 protein entries:     VILI_HUMAN (see all proteins):
    AVIL    DMTN    DKFZp313L0718    VILL    GSN    SCIN
    SVIL    CAPG    FLII

    Find genes that share paralogs with VIL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VIL1 (see all 719)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421292651,2
    --219282042(+) GAACAA/GAAAAC 1 -- us2k10--------
    rs1834873471,2
    --219282229(+) AGACAC/TGAACA 1 -- us2k10--------
    rs1435349441,2
    C--219282241(+) AACAT-/GGCTCC 1 -- us2k10--------
    rs1880942011,2
    --219282290(+) AAGGCA/CTCCAC 1 -- us2k10--------
    rs75727451,2
    C,F,A,H--219282320(+) cccccA/Gttgga 1 -- us2k19Minor allele frequency- G:0.38NA CSA WA EA 370
    rs75989761,2
    C,F--219282336(+) gggggA/Gctact 1 -- us2k1 trp31Minor allele frequency- G:0.09WA 118
    rs1431282041,2
    --219282371(+) GGGAGG/TCTGTG 1 -- us2k10--------
    rs1482858961,2
    --219282415(+) TTCACA/GTCACC 1 -- us2k10--------
    rs133913981,2
    C,F,H--219282429(+) CTAAGG/AACCAG 1 -- us2k117Minor allele frequency- A:0.17NS EA NA CSA WA 1458
    rs1413230201,2
    --219282430(+) TAAGGA/CCCAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VIL1 (219283815 - 219318018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VIL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1009419CNV Deletion20482838
    esv2667151CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VIL1
    DNA2.0 Custom Variant and Variant Library Synthesis for VIL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 193040    OMIM disorders: --

    UniProtKB/Swiss-Prot: VILI_HUMAN, P09327
  • 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

  • 1 disease for VIL1:    
    About MalaCards
    cholestasis, progressive canalicular

    2 diseases from the University of Copenhagen DISEASES database for VIL1:
    Kaposi's sarcoma     Lymphoma

    Find genes that share disorders with VIL1           About GenesLikeMe


    Export disorders for VIL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VIL1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with VIL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 2846586)1, 2, 3 Arpin M.... van de Kerckhove B. (J. Cell Biol. 1988)
    2. Differential effects of lysophosphatidic acid and phosphatidylinositol 4,5-bisphosphate on actin dynamics by direct association with the actin-binding protein villin. (PubMed id 19808673)1, 2 Tomar A.... Khurana S. (J. Biol. Chem. 2009)
    3. Autotaxin and lysophosphatidic acid stimulate intestinal cell motility by redistribution of the actin modifying protein villin to the developing lamellipodia. (PubMed id 18054784)1, 2 Khurana S.... Mathew S. (Exp. Cell Res. 2008)
    4. Obligatory role for phospholipase C-gamma(1) in villin-induced epithelial cell migration. (PubMed id 17229814)1, 2 Wang Y.... Khurana S. (Am. J. Physiol. 2007)
    5. Dimerization and actin-bundling properties of villin and its role in the assembly of epithelial cell brush borders. (PubMed id 17606613)1, 2 George S.P.... Khurana S. (J. Biol. Chem. 2007)
    6. Villin severing activity enhances actin-based motility in vivo. (PubMed id 17182858)1, 2 Revenu C.... Robine S. (Mol. Biol. Cell 2007)
    7. Interaction of phospholipase C-gamma1 with villin regulates epithelial cell migration. (PubMed id 16921170)1, 2 Tomar A.... Khurana S. (J. Biol. Chem. 2006)
    8. Regulation of cell motility by tyrosine phosphorylated villin. (PubMed id 15342783)1, 2 Tomar A.... Khurana S. (Mol. Biol. Cell 2004)
    9. Association of villin with phosphatidylinositol 4,5-bisphosphate regulates the actin cytoskeleton. (PubMed id 14594952)1, 2 Kumar N.... Khurana S. (J. Biol. Chem. 2004)
    10. Functional dissection and molecular characterization of calcium- sensitive actin-capping and actin-depolymerizing sites in villin. (PubMed id 15272027)1, 2 Kumar N.... Khurana S. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7429 HGNC: 12690 AceView: VIL1 Ensembl:ENSG00000127831 euGenes: HUgn7429
    ECgene: VIL1 H-InvDB: VIL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VIL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VIL1 gene:
    Search GeneIP for patents involving VIL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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