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Aliases for VCL Gene

Aliases for VCL Gene

  • Vinculin 2 3
  • Metavinculin 2 3 4
  • CMD1W 3 6
  • CMH15 3 6
  • MV 3 4
  • Epididymis Luminal Protein 114 3
  • HEL114 3
  • MVCL 3

External Ids for VCL Gene

Previous GeneCards Identifiers for VCL Gene

  • GC10P074712
  • GC10P074861
  • GC10P075650
  • GC10P075102
  • GC10P075427
  • GC10P075757
  • GC10P069753

Summaries for VCL Gene

Entrez Gene Summary for VCL Gene

  • Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for VCL Gene

VCL (Vinculin) is a Protein Coding gene. Diseases associated with VCL include cardiomyopathy, dilated, 1w and cardiomyopathy, familial hypertrophic, 15. Among its related pathways are Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include actin binding and beta-catenin binding. An important paralog of this gene is CTNNA3.

UniProtKB/Swiss-Prot for VCL Gene

  • Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

Gene Wiki entry for VCL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VCL Gene

Genomics for VCL Gene

Regulatory Elements for VCL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for VCL Gene

Start:
73,995,193 bp from pter
End:
74,121,363 bp from pter
Size:
126,171 bases
Orientation:
Plus strand

Genomic View for VCL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VCL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VCL Gene

Proteins for VCL Gene

  • Protein details for VCL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18206-VINC_HUMAN
    Recommended name:
    Vinculin
    Protein Accession:
    P18206
    Secondary Accessions:
    • Q16450
    • Q5SWX2
    • Q7Z3B8
    • Q8IXU7

    Protein attributes for VCL Gene

    Size:
    1134 amino acids
    Molecular mass:
    123799 Da
    Quaternary structure:
    • Exhibits self-association properties. Interacts with APBB1IP, NRAP and SORBS1 (By similarity). Interacts with TLN1. Interacts with CTNNB1 and this interaction is necessary for its localization to the cell-cell junctions and for its function in regulating cell surface expression of E-cadherin (By similarity). Interacts with SYNM.

    Three dimensional structures from OCA and Proteopedia for VCL Gene

    Alternative splice isoforms for VCL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VCL Gene

Proteomics data for VCL Gene at MOPED

Post-translational modifications for VCL Gene

  • Acetylated; mainly by myristic acid but also by a small amount of palmitic acid.
  • Phosphorylated; on serines, threonines and tyrosines. Phosphorylation on Tyr-1133 in activated platelets affects head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal adhesion plaques (By similarity).
  • Ubiquitination at Lys219, Lys444, Lys464, Lys476, Lys581, Lys699, and Lys815
  • Modification sites at PhosphoSitePlus

Other Protein References for VCL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VCL (Vinculin iso2)

No data available for DME Specific Peptides for VCL Gene

Domains for VCL Gene

Protein Domains for VCL Gene

Suggested Antigen Peptide Sequences for VCL Gene

Graphical View of Domain Structure for InterPro Entry

P18206

UniProtKB/Swiss-Prot:

VINC_HUMAN :
  • P18206
Domain:
  • Exists in at least two conformations. When in the closed, inactive conformation, extensive interactions between the head and tail domains prevent detectable binding to most of its ligands. It takes on an active conformation after cooperative and simultaneous binding of two different ligands. This activation involves displacement of the head-tail interactions and leads to a significant accumulation of ternary complexes. The active form then binds a number of proteins that have both signaling and structural roles that are essential for cell adhesion.
  • The N-terminal globular head (Vh) comprises of subdomains D1-D4. The C-terminal tail (Vt) binds F-actin and cross-links actin filaments into bundles. In isoform 2 (metavinculin) a 68 residue insertion in the tail domain promotes actin severing instead of bundling. An intramolecular interaction between Vh and Vt masks the F-actin-binding domain located in Vt. The binding of talin and alpha-actinin to the D1 subdomain of vinculin induces a helical bundle conversion of this subdomain, leading to the disruption of the intramolecular interaction and the exposure of the cryptic F-actin-binding domain of Vt. Vt inhibits actin filament barbed end elongation without affecting the critical concentration of actin assembly.
Family:
  • Belongs to the vinculin/alpha-catenin family.
genes like me logo Genes that share domains with VCL: view

No data available for Gene Families for VCL Gene

Function for VCL Gene

Molecular function for VCL Gene

GENATLAS Biochemistry: vinculin,130kDa,component of adherens type of cell junction (catenin family)
UniProtKB/Swiss-Prot Function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

Gene Ontology (GO) - Molecular Function for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002162 dystroglycan binding IPI 18341635
GO:0003779 NOT actin binding IDA 7816144
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10320934
GO:0008013 beta-catenin binding ISS 20086044
genes like me logo Genes that share ontologies with VCL: view
genes like me logo Genes that share phenotypes with VCL: view

Animal Models for VCL Gene

MGI Knock Outs for VCL:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VCL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for VCL Gene

Localization for VCL Gene

Subcellular locations from UniProtKB/Swiss-Prot for VCL Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Note=Cytoplasmic face of adhesion plaques. Recruitment to cell-cell junctions occurs in a myosin II-dependent manner. Interaction with CTNNB1 is necessary for its localization to the cell-cell junctions (By similarity). Colocalizes with LIMD1 in the focal adhesions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VCL Gene COMPARTMENTS Subcellular localization image for VCL gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
extracellular 4
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with VCL: view

Pathways for VCL Gene

genes like me logo Genes that share pathways with VCL: view

PCR Array Products

Gene Ontology (GO) - Biological Process for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IMP 20086044
GO:0002576 platelet degranulation TAS --
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
GO:0007155 cell adhesion TAS 15501673
genes like me logo Genes that share ontologies with VCL: view

Compounds for VCL Gene

(60) Novoseek inferred chemical compound relationships for VCL Gene

Compound -log(P) Hits PubMed IDs
phosphotyrosine 70.2 27
cytochalasin d 62.9 2
tyrosine 62 59
phalloidin 60.8 5
swinholide a 55.9 2
genes like me logo Genes that share compounds with VCL: view

Transcripts for VCL Gene

Unigene Clusters for VCL Gene

Vinculin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VCL

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VCL Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ·
SP1: - -
SP2: -
SP3: -
SP4:
SP5: - - - - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - -
SP11:
SP12:

ExUns: 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c · 24d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for VCL Gene

GeneLoc Exon Structure for
VCL
ECgene alternative splicing isoforms for
VCL

Expression for VCL Gene

mRNA expression in normal human tissues for VCL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VCL Gene

SOURCE GeneReport for Unigene cluster for VCL Gene Hs.643896

mRNA Expression by UniProt/SwissProt for VCL Gene

P18206-VINC_HUMAN
Tissue specificity: Metavinculin is muscle-specific
genes like me logo Genes that share expressions with VCL: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for VCL Gene

Orthologs for VCL Gene

This gene was present in the common ancestor of animals.

Orthologs for VCL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VCL 35
  • 99.88 (n)
  • 100 (a)
VCL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VCL 35
  • 94.3 (n)
  • 99.12 (a)
VCL 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VCL 35
  • 94.18 (n)
  • 98.84 (a)
VCL 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vcl 35
  • 89.99 (n)
  • 96.62 (a)
Vcl 16
Vcl 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VCL 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vcl 35
  • 89.02 (n)
  • 96.25 (a)
chicken
(Gallus gallus)
Aves VCL 35
  • 80.33 (n)
  • 92.59 (a)
VCL 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VCL 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia vcl-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10749 35
vcl 35
  • 75.34 (n)
  • 87.14 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12305 35
zebrafish
(Danio rerio)
Actinopterygii vcla 35
  • 76.15 (n)
  • 86.13 (a)
vcla 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Vinc 36
  • 48 (a)
OneToOne
Vinc 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea deb-1 36
  • 45 (a)
OneToOne
deb-1 37
  • 39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10978 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for VCL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VCL Gene

ENSEMBL:
Gene Tree for VCL (if available)
TreeFam:
Gene Tree for VCL (if available)

Paralogs for VCL Gene

Paralogs for VCL Gene

genes like me logo Genes that share paralogs with VCL: view

Variants for VCL Gene

Sequence variations from dbSNP and Humsavar for VCL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs16408 -- 74,119,157(+) TCTCC(-/TA)TATCC utr-variant-3-prime
rs703258 -- 74,119,753(-) TCATT(A/T)TAAAG utr-variant-3-prime
rs767809 Benign 74,105,307(+) TCCCC(A/G)ATGGT synonymous-codon, reference
rs1049456 -- 74,119,206(+) GATTT(A/T)AAAGA utr-variant-3-prime
rs1403629 -- 74,013,604(-) TTAAC(C/G)ATTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VCL Gene

Variant ID Type Subtype PubMed ID
nsv25246 CNV Loss 16902084

Relevant External Links for VCL Gene

HapMap Linkage Disequilibrium report
VCL
Human Gene Mutation Database (HGMD)
VCL

PCR Panel Products

  • Copy Number PCR Panels: for VCL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VCL Gene

Disorders for VCL Gene

(2) OMIM Diseases for VCL Gene (193065)

UniProtKB/Swiss-Prot

VINC_HUMAN
  • Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11815424, ECO:0000269 PubMed:16236538}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:16712796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for VCL Gene

(42) Novoseek inferred disease relationships for VCL Gene

Disease -log(P) Hits PubMed IDs
dilated cardiomyopathy 41.5 14
muscular dystrophy becker 38.7 1
shigellosis 23.7 2
muscular dystrophy duchenne 18.3 1
darier disease 17.7 1

Relevant External Links for VCL

GeneTests
VCL
GeneReviews
VCL
Genetic Association Database (GAD)
VCL
Human Genome Epidemiology (HuGE) Navigator
VCL
genes like me logo Genes that share disorders with VCL: view

Publications for VCL Gene

  1. Complete sequence of human vinculin and assignment of the gene to chromosome 10. (PMID: 2116004) Weller P.A. … Critchley D.R. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  2. Organization of the human gene encoding the cytoskeletal protein vinculin and the sequence of the vinculin promoter. (PMID: 8440716) Moiseyeva E.P. … Critchley D.R. (J. Biol. Chem. 1993) 3 4 23
  3. Vinculin activation by talin through helical bundle conversion. (PMID: 14702644) Izard T. … Bois P.R.J. (Nature 2004) 3 4 23
  4. Structural basis for amplifying vinculin activation by talin. (PMID: 15070891) Izard T. … Vonrhein C. (J. Biol. Chem. 2004) 3 4 23
  5. The phosphorylation of vinculin on tyrosine residues 100 and 1065, mediated by SRC kinases, affects cell spreading. (PMID: 15229287) Zhang Z. … Haimovich B. (Mol. Biol. Cell 2004) 3 4 23

Products for VCL Gene

Sources for VCL Gene

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