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    VILL villin like [ Homo sapiens (human) ]

    Gene ID: 50853, updated on 5-Mar-2024

    Summary

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    Official Symbol
    VILLprovided by HGNC
    Official Full Name
    villin likeprovided by HGNC
    Primary source
    HGNC:HGNC:30906
    See related
    Ensembl:ENSG00000136059 MIM:619666; AllianceGenome:HGNC:30906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in stomach (RPKM 21.1), small intestine (RPKM 13.2) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VILL in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (37987978..38007185)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (37992157..38011362)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38029469..38048676)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 9 Neighboring gene ITGA9 antisense RNA 1 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37904633-37905134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37905135-37905634 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:37945100-37945826 Neighboring gene Sharpr-MPRA regulatory region 2528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19674 Neighboring gene CTD small phosphatase like Neighboring gene HNF1 motif-containing MPRA enhancer 248 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:38003356-38003967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38010565-38011128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38011129-38011690 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:38028477-38028654 Neighboring gene Sharpr-MPRA regulatory region 12639 Neighboring gene Sharpr-MPRA regulatory region 7921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38035775-38036392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38039104-38039674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38047479-38047979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38050723-38051473 Neighboring gene microRNA 26a-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19676 Neighboring gene phospholipase C delta 1 Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene DLEC1 cilia and flagella associated protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants. Piana S, et al. J Mol Biol, 2008 Jan 11. PMID 18022635
    2. Frequent loss of Brm expression in gastric cancer correlates with histologic features and differentiation state. Yamamichi N, et al. Cancer Res, 2007 Nov 15. PMID 18006815
    3. Sequence analysis of a 685-kb genomic region on chromosome 3p22-p21.3 that is homozygously deleted in a lung carcinoma cell line. Ishikawa S, et al. DNA Res, 1997 Feb 28. PMID 9179494
    4. Interaction of phospholipase C-gamma1 with villin regulates epithelial cell migration. Tomar A, et al. J Biol Chem, 2006 Oct 20. PMID 16921170
    5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.
      Title: Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.
    2. Brm is required for villin expression, a definitive marker of intestinal metaplasia and differentiation
      Title: Frequent loss of Brm expression in gastric cancer correlates with histologic features and differentiation state.
    3. phospholipase C-gamma1 interaction with villin regulates epithelial cell migration
      Title: Interaction of phospholipase C-gamma1 with villin regulates epithelial cell migration.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament severing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin polymerization or depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    villin-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001370264.1 → NP_001357193.1  villin-like protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536
      UniProtKB/TrEMBL
      A0A0S2Z5H2
      Conserved Domains (6) summary
      smart00153
      Location:651 → 686
      VHP; Villin headpiece domain
      cd11288
      Location:336 → 426
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:441 → 536
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:78 → 176
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:215 → 315
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:1 → 58
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    2. NM_001370265.1 → NP_001357194.1  villin-like protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536
      UniProtKB/TrEMBL
      D6R9H2
      Conserved Domains (5) summary
      smart00153
      Location:618 → 653
      VHP; Villin headpiece domain
      cd11288
      Location:303 → 393
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:408 → 503
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:182 → 282
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:78 → 143
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    3. NM_001385038.1 → NP_001371967.1  villin-like protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536
      Consensus CDS
      CCDS2670.2
      UniProtKB/Swiss-Prot
      A8MZP1, O15195, Q9BT80, Q9BWH7
      Conserved Domains (7) summary
      smart00153
      Location:821 → 856
      VHP; Villin headpiece domain
      cd11288
      Location:506 → 596
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:135 → 228
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:6 → 119
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:611 → 706
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:248 → 346
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:385 → 485
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

    4. NM_001385039.1 → NP_001371968.1  villin-like protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536
      Consensus CDS
      CCDS2670.2
      UniProtKB/Swiss-Prot
      A8MZP1, O15195, Q9BT80, Q9BWH7
      Related
      ENSP00000283713.6, ENST00000283713.10
      Conserved Domains (7) summary
      smart00153
      Location:821 → 856
      VHP; Villin headpiece domain
      cd11288
      Location:506 → 596
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:135 → 228
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:6 → 119
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:611 → 706
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:248 → 346
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:385 → 485
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

    5. NM_015873.4 → NP_056957.3  villin-like protein isoform 1

      See identical proteins and their annotated locations for NP_056957.3

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536
      Consensus CDS
      CCDS2670.2
      UniProtKB/Swiss-Prot
      A8MZP1, O15195, Q9BT80, Q9BWH7
      Related
      ENSP00000373266.2, ENST00000383759.7
      Conserved Domains (7) summary
      smart00153
      Location:821 → 856
      VHP; Villin headpiece domain
      cd11288
      Location:506 → 596
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:135 → 228
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:6 → 119
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:611 → 706
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:248 → 346
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:385 → 485
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

    RNA

    1. NR_163266.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536

    2. NR_163267.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC105752, AC144536

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      37987978..38007185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      37992157..38011362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15195.3 GenPept UniProtKB/Swiss-Prot:O15195

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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