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VIL1 villin 1 [ Homo sapiens (human) ]

Gene ID: 7429, updated on 7-Oct-2018

Summary

Official Symbol
VIL1provided by HGNC
Official Full Name
villin 1provided by HGNC
Primary source
HGNC:HGNC:12690
See related
Ensembl:ENSG00000127831 MIM:193040; Vega:OTTHUMG00000133112
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
Also known as
VIL; D2S1471
Summary
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]
Expression
Biased expression in small intestine (RPKM 141.0), duodenum (RPKM 126.6) and 3 other tissues See more
Orthologs

Genomic context

See VIL1 in Genome Data Viewer
Location:
2q35
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (218419115..218449525)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219283838..219314248)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 11 member 1 Neighboring gene CTD small phosphatase 1 Neighboring gene microRNA 26b Neighboring gene ubiquitin specific peptidase 37 Neighboring gene RNA, 7SK small nuclear pseudogene 38 Neighboring gene CCR4-NOT transcription complex subunit 9 Neighboring gene RNA, U6 small nuclear 136, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
cysteine-type endopeptidase inhibitor activity involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lysophosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
actin filament depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament severing IDA
Inferred from Direct Assay
more info
PubMed 
actin nucleation IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
barbed-end actin filament capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to epidermal growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hepatocyte growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic actin-based contraction involved in cell motility IDA
Inferred from Direct Assay
more info
PubMed 
epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
intestinal D-glucose absorption IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of actin filament depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lamellipodium morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of lamellipodium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of actin nucleation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lamellipodium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of microvillus length IEA
Inferred from Electronic Annotation
more info
 
regulation of wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
terminal web assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin filament bundle IDA
Inferred from Direct Assay
more info
PubMed 
brush border ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
filopodium tip ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_007127.2NP_009058.2  villin-1

    See identical proteins and their annotated locations for NP_009058.2

    Status: REVIEWED

    Source sequence(s)
    AK223398, AK313709, BP329402
    Consensus CDS
    CCDS2417.1
    UniProtKB/Swiss-Prot
    P09327
    UniProtKB/TrEMBL
    Q53F91
    Related
    ENSP00000248444.5, OTTHUMP00000164145, ENST00000248444.9, OTTHUMT00000256778
    Conserved Domains (7) summary
    cd11288
    Location:513603
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:136225
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:17121
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:619715
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:250348
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:392492
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    pfam02209
    Location:793827
    VHP; Villin headpiece domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    218419115..218449525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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