VIL1 villin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VIL1provided by HGNC
Official Full Name: villin 1provided by HGNC
Primary source: HGNC:HGNC:12690
See related: Ensembl:ENSG00000127831 MIM:193040; AllianceGenome:HGNC:12690
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: mouse all
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Genomic context

Location:: 2q35

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (218419123..218453295)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (218905241..218939415)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (219283846..219318018)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

F-actin-bundling sites are conserved in proteins with villin-type headpiece domains.
Title: F-actin-bundling sites are conserved in proteins with villin-type headpiece domains.
Transcriptome analysis uncovers the diagnostic value of miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma.
Title: Transcriptome analysis uncovers the diagnostic value of miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma.
Data show that data demonstrate that tumor protein translationally-controlled 1 (TCTP) overexpression has a promotion effect on caudal type homeo box transcription factor 2 protein (CDX2) and villin1 protein (VIL1) expression.
Title: HpSlyD inducing CDX2 and VIL1 expression mediated through TCTP protein may contribute to intestinal metaplasia in the stomach.
Villin, Pro-Ex-C and progesterone/estrogen receptor expression have diagnostic and predictive roles in endocervical and endometrioid adenocarcinoma.
Title: Panel of Villin, Pro-Ex-C, Estrogen Receptor and Progesterone Receptor Expressions Could Help in Differentiation Between Endocervical and Endometrioid Adenocarcinoma.
Induction of cell stress alters the actin cytoskeleton in intestinal epithelial cells via changes in the actin-binding proteins villin-1 and gelsolin.
Title: Villin-1 and Gelsolin Regulate Changes in Actin Dynamics That Affect Cell Survival Signaling Pathways and Intestinal Inflammation.
Villin 1 is released in plasma during acute kidney injury and shows potential as an early marker for proximal tubular injury/necrosis.
Title: Plasmatic Villin 1 Is a Novel In Vivo Marker of Proximal Tubular Cell Injury During Renal Ischemia-Reperfusion.
Villin has a higher positive expression in Primary Pulmonary Enteric Adenocarcinoma cases. Villin proved to be a very sensitive and helpful enteric marker in the differential diagnosis between PEAC and other lung adenocarcinomas.
Title: Clinicopathological, radiographic, and oncogenic features of primary pulmonary enteric adenocarcinoma in comparison with invasive adenocarcinoma in resection specimens.
villin directly interacts with a transcriptional corepressor and ligand of the Slug promoter, ZBRK1.
Title: By moonlighting in the nucleus, villin regulates epithelial plasticity.
Data indicate an association between highly fucosylated glycans and caudal type homeobox 1 (CDX1) and/or villin mRNA expression that both correlate with cell differentiation.
Title: N-glycosylation Profiling of Colorectal Cancer Cell Lines Reveals Association of Fucosylation with Differentiation and Caudal Type Homebox 1 (CDX1)/Villin mRNA Expression.
study demonstrates that G. duodenalis-mediated disruption of villin is, at least, in part dependent on activation of myosin light chain kinase
Title: Giardia duodenalis Surface Cysteine Proteases Induce Cleavage of the Intestinal Epithelial Cytoskeletal Protein Villin via Myosin Light Chain Kinase.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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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

GDB:542905 (e-PCR)
- UniSTS:157572

D2S2722 (e-PCR)
- UniSTS:62347

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lysophosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament capping	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament severing	IDA Inferred from Direct Assay more info	PubMed
involved_in actin polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hepatocyte growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic actin-based contraction involved in cell motility	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in intestinal D-glucose absorption	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of actin filament depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lamellipodium morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of lamellipodium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell shape	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of lamellipodium morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lamellipodium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of microvillus length	IEA Inferred from Electronic Annotation more info
involved_in regulation of wound healing	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in terminal web assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament bundle	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium tip	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: villin-1

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)

NM_007127.3 → NP_009058.2 villin-1

See identical proteins and their annotated locations for NP_009058.2

Status: REVIEWED

Source sequence(s)

AC073838, AK223398, AK313709, BP329402

Consensus CDS

CCDS2417.1

UniProtKB/Swiss-Prot

B2R9A7, P09327, Q53S11, Q96AC8

UniProtKB/TrEMBL

Q53F91

Related

ENSP00000248444.5, ENST00000248444.10

Conserved Domains (7) summary

cd11288
Location:513 → 603

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11289
Location:136 → 225

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:17 → 121

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:619 → 715

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:250 → 348

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd11293
Location:392 → 492

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

pfam02209
Location:793 → 827

VHP; Villin headpiece domain