TAG for VCL

Gene content

Symbol

VCL ( by HUGO)

Name

Vinculin

Category

Tumor suppressor gene

Alias

vinculin
metavinculin
MV
CMD1W
CMH15
HEL114
MVCL
Epididymis Luminal Protein 114
Metavinculin

Cytogenetic band

NCBI: 10q22.2 Ensembl: 10q22.2

Protein information

VINC_HUMAN

Size: 1134 amino acids

Mass: 123799 Da

Subunit: 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 Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for VCL (see all 18): 1RKC (3D) [IMAGE] 1RKE (3D) [IMAGE] 1SYQ (3D) [IMAGE] 1TR2 (3D) [IMAGE] 1YDI (3D) [IMAGE] 2GWW (3D) [IMAGE]

Tissue specificity: Metavinculin is muscle-specific [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including VCL: cAMP / Ca2+ Signaling PathwayFinder in human mouse rat Adherens Junctions in human mouse rat Focal Adhesions in human mouse rat Cell Motility in human

Function:

UniProtKB/Swiss-Prot Summary: VINC_HUMAN, P18206 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

Similarity:

Belongs to the vinculin/alpha-catenin family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000633	Vinculin_CS	Vinculin	Family
InterPro	IPR006077	Vinculin/catenin	Vinculin/alpha-catenin	Family

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	apical junction assembly	IMP	GOA	9700171
	cell adhesion	TAS	GOA	15501673
	cellular component movement	TAS	GOA	16130169
	negative regulation of cell migration	TAS	GOA	15494027
Cellular Component	cell-substrate junction	NAS	GOA	2116004
	costamere	IDA	GOA	9415431
	cytoskeleton	TAS	GOA	16130169
	extracellular vesicular exosome	IDA	GOA	19056867
	protein complex	IDA	GOA	9700171
Molecular Function	actin binding	IDA	GOA	16803572
	alpha-catenin binding	IPI	GOA	9700171
	dystroglycan binding	IPI	GOA	18341635
	NOT actin binding	IDA	GOA	7816144
	protein binding	IPI	GOA	10320934

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

VCL cross reference