InnateDB Protein
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IDBP-78930.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VCL
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Protein Name
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vinculin
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Synonyms
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CMD1W; CMH15; HEL114; MV; MVCL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000361841
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InnateDB Gene
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IDBG-78928 (VCL)
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Protein Structure
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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. {ECO:0000269PubMed:20484056}.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000269PubMed:18439753}. Cell junction, adherens junction {ECO:0000269PubMed:18439753}. Cell membrane {ECO:0000269PubMed:18439753}; Peripheral membrane protein {ECO:0000269PubMed:18439753}; Cytoplasmic side {ECO:0000269PubMed:18439753}. Cell junction, focal adhesion {ECO:0000269PubMed:18439753}. 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}.
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Disease Associations |
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:0000269PubMed:11815424, ECO:0000269PubMed: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:0000269PubMed:16712796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Metavinculin is muscle-specific.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 213 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated |
Total |
213
[view]
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Protein-Protein |
212
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006077
Vinculin/alpha-catenin
IPR017997
Vinculin
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PFAM |
PF01044
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PRINTS |
PR00806
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P18206
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PhosphoSite |
PhosphoSite-P18206
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TrEMBL |
A0A024QZN4
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UniProt Splice Variant |
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Entrez Gene |
7414
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UniGene |
Hs.643896
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RefSeq |
NP_003364
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HUGO |
HGNC:12665
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OMIM |
193065
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CCDS |
CCDS7340
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HPRD |
01900
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IMGT |
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EMBL |
AL596247
AL731576
BC039174
BX537994
CH471083
L04933
M33308
S87175
S87178
S87180
S87218
S87223
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GenPept |
AAA61271
AAA61283
AAB21656
AAB21657
AAH39174
CAD97952
CAI13972
CAI39673
EAW54550
EAW54551
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