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VILL villin like [ Homo sapiens (human) ]

Gene ID: 50853, updated on 27-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (37987978..38007185)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (37992157..38011362)
RS_2024_09 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. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article

See all (14) 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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2024_08

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

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