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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VIL1 Gene

protein-coding   GIFtS: 60
GCID: GC02P219285

villin 1


(Previous symbol: VIL)
 Explore 17 diseases affiliated with
VIL1 via our new
 Human Malady Compendium 
Biological research products
for VIL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Villin 11 2
VIL1 2 3
D2S14711 2
Villin-11

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VIL1:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VIL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P09327

  • VIL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for VIL1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA17229814
    GO:0005737cytoplasm IEA--
    GO:0005902microvillus IDA17182858
    GO:0030027lamellipodium IDA17229814
    GO:0030175filopodium IDA15342783


    VIL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VIL1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    VIL1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015627 Villin
     IPR007122 Gelsolin
     IPR003128 Villin_headpiece
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry P09327

    ProtoNet protein and cluster: P09327

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005509calcium ion binding IDA11500485
    GO:0005515protein binding IPI17229814
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA14594952
    GO:0035727lysophosphatidic acid binding IDA19808673


    VIL1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Vil1tm1Syr for VIL1
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vil1):
     homeostasis/metabolism  normal 

    VIL1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton1.00
    2Cytoskeletal Signaling
    Cytoskeletal Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    1 BioSystems Pathway for VIL1 
        Regulation of Actin Cytoskeleton



    VIL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VIL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for VIL1 (P093271, 2, 3 ENSP000002484444) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    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
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    ACTG1P632613, ENSP000003315144I2D: score=1 STRING: ENSP00000331514
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    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


    VIL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for VIL1

    1 HMDB Compound for VIL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about VIL1 / VILI 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/125 AceView cDNA sequences (see all 125):

    BC017303 AI304462 AI355117 AI699588 BM825177 AI304550 AI673503 AA876039 
    AV697342 AI318375 BE502338 AW139085 AW444781 BQ084461 BM823478 AA305307 
    BE463508 BX505818 CA429743 AA502293 BM783461 N74218 AW273255 AA128234 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VIL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAACGAGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    VIL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HypoblastExtraembryonic EndodermExtraembryonic Endoderm CellsExtraembryonic Tissues, Yolk Sac
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (Generation of mesend...)

    See VIL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VIL1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VIL1 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves VIL11 villin 1 72.2(n)
    71.43(a)
      396423  NM_205442.1  NP_990773.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gel3 actin binding 35(a)
    (best of 2)
      82A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea K06A4.33 gelsolin 37(a)   V(9499695-9501863)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G573201 gelsolin 47.12(n)
    35.88(a)
      835837  NM_125114.1  NP_200542.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    villin protein, putative, expressed
    (see all 5)
    29(a)
    26(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    8(8507453-8515439)
    4(30278742-30287878)


    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)
    About This Section
    Paralogs for VIL1 gene
    SVIL2  FLII2  AVIL2  VILL2  SCIN2  GSN2  CAPG2  
    9 SIMAP similar genes for VIL1 using alignment to 6 protein entries:     VILI_HUMAN (see all proteins):
    AVIL    EPB49    DKFZp313L0718    VILL    GSN    SCIN
    SVIL    CAPG    FLII

    VIL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/538 NCBI SNPs in VIL1 are shown (see all 538    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
    --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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VIL1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    VIL1 for disorders           About GeneDecksing

    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

    17 diseases for VIL1:    About MalaCards
    cholestasis, progressive canalicular    kaposi's sarcoma    ectodermal dysplasia    biliary atresia
    cholestasis    inflammatory bowel disease    neuroendocrine carcinoma    leprosy
    sarcoma    ovarian lymphoma    crohn's disease    liver disease
    colon cancer    lung carcinoma    adenoma    carcinoma
    cervicitis

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

    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)
    About This Section

    PubMed articles for VIL1 gene, integrated from 9 sources (see all 53):
    (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. (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. (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. (2008)
    4. Obligatory role for phospholipase C-gamma(1) in villin-induced epithelial cell migration. (PubMed id 17229814)1, 2 Wang Y....Khurana S. (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. (2007)
    6. Villin severing activity enhances actin-based motility in vivo. (PubMed id 17182858)1, 2 Revenu C....Robine S. (2007)
    7. Interaction of phospholipase C-gamma1 with villin regulates epithelial cell migration. (PubMed id 16921170)1, 2 Tomar A....Khurana S. (2006)
    8. Regulation of cell motility by tyrosine phosphorylated villin. (PubMed id 15342783)1, 2 Tomar A....Khurana S. (2004)
    9. Association of villin with phosphatidylinositol 4,5-bisphosphate regulates the actin cytoskeleton. (PubMed id 14594952)1, 2 Kumar N.... Khurana S. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7429 HGNC: 12690 AceView: VIL1 Ensembl:ENSG00000127831 euGenes: HUgn7429
    ECgene: VIL1 H-InvDB: VIL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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