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VCL vinculin [ Homo sapiens (human) ]

Gene ID: 7414, updated on 29-Jul-2014
Official Symbol
VCLprovided by HGNC
Official Full Name
vinculinprovided by HGNC
Primary source
HGNC:12665
Locus tag
RP11-178G16.3
See related
Ensembl:ENSG00000035403; HPRD:01900; MIM:193065; Vega:OTTHUMG00000018498
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
MV; MVCL; CMD1W; CMH15; HEL114
Summary
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]
Location:
10q22.2
Exon count:
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (73998078..74120160)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75757836..75879918)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene calcium/calmodulin-dependent protein kinase II gamma Neighboring gene chromosome 10 open reading frame 55 Neighboring gene plasminogen activator, urokinase Neighboring gene adaptor-related protein complex 3, mu 1 subunit Neighboring gene adenosine kinase Neighboring gene translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef induces polarization of vinculin, a molecule important for dendritic cell (DC) adhesion, motility, and maturation, at one pole of DCs corresponding to the substrate-adhering portion or leading edge of the cell PubMed
matrix gag HIV-1 MA co-localizes with beta2 integrin, alphaM and alphaX integrins in the intracellular thick electron-dense membrane compartments, which contain talin, vinculin and paxillin that connect the integrin complexes to the actin cytoskeleton PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
  • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
    Integrins in angiogenesis, organism-specific biosystem
    Integrins in angiogenesis
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RhoA signaling pathway, organism-specific biosystem
    RhoA signaling pathway
  • Shigellosis, organism-specific biosystem (from KEGG)
    Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
  • Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem
    Signaling events mediated by VEGFR1 and VEGFR2
  • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by focal adhesion kinase, organism-specific biosystem
    Signaling events mediated by focal adhesion kinase
  • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
    Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
  • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
    Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
    Stabilization and expansion of the E-cadherin adherens junction
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT actin binding IDA
Inferred from Direct Assay
more info
PubMed 
alpha-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-catenin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cadherin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
dystroglycan binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adherens junction assembly IMP
Inferred from Mutant Phenotype
more info
 
apical junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell-matrix adhesion TAS
Traceable Author Statement
more info
 
cellular component movement TAS
Traceable Author Statement
more info
PubMed 
epithelial cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 
lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of an epithelium IMP
Inferred from Mutant Phenotype
more info
 
muscle contraction TAS
Traceable Author Statement
more info
 
negative regulation of cell migration TAS
Traceable Author Statement
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell adherens junction IDA
Inferred from Direct Assay
more info
 
cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-substrate junction NAS
Non-traceable Author Statement
more info
PubMed 
costamere IDA
Inferred from Direct Assay
more info
PubMed 
costamere ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
 
focal adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
vinculin
Names
vinculin
metavinculin
epididymis luminal protein 114

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.

Genomic

  1. NG_008868.1 

    Range
    5001..127047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_383

mRNA and Protein(s)

  1. NM_003373.3NP_003364.1  vinculin isoform VCL

    See proteins identical to NP_003364.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 3' coding exon, as compared to variant 1. It encodes a shorter isoform (VCL), which is the major talin-binding protein in platelets.
    Source sequence(s)
    AI290052, AK126978, AL708715, AL832130, BC013847, BC039174, BX537994
    Consensus CDS
    CCDS7340.1
    UniProtKB/TrEMBL
    B3KXA2
    UniProtKB/Swiss-Prot
    P18206
    Related
    ENSP00000361841, OTTHUMP00000019861, ENST00000372755, OTTHUMT00000048751
    Conserved Domains (1) summary
    pfam01044
    Location:31066
    Blast Score: 2672
    Vinculin; Vinculin family
  2. NM_014000.2NP_054706.1  vinculin isoform meta-VCL

    See proteins identical to NP_054706.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs from variant 2 in having an additional exon in the 3' coding region. It thus encodes a longer isoform (meta-VCL).
    Source sequence(s)
    AA368699, AI290052, AK126978, AL700886, AL708715, AL832130, BC013847, BC039174
    Consensus CDS
    CCDS7341.1
    UniProtKB/TrEMBL
    B3KXA2
    UniProtKB/Swiss-Prot
    P18206
    UniProtKB/TrEMBL
    V9HWK2
    Related
    ENSP00000211998, ENST00000211998
    Conserved Domains (1) summary
    pfam01044
    Location:31134
    Blast Score: 2678
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    73998078..74120160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270142.1XP_005270199.1  

    Conserved Domains (1) summary
    pfam01044
    Location:31135
    Blast Score: 2676
    Vinculin; Vinculin family
  2. XM_005270143.1XP_005270200.1  

    Conserved Domains (1) summary
    pfam01044
    Location:31067
    Blast Score: 2670
    Vinculin; Vinculin family

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    69753196..69875221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    76039663..76161889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)