• Gene id: 7414

Gene Summary

• Gene Symbol: VCL   Gene   UCSC   Ensembl
• Aliases: CMD1W, CMH15, HEL114, MV, MVCL
• Gene name: vinculin
• Alternate names: vinculin, epididymis luminal protein 114, epididymis secretory sperm binding protein, meta-vinculin, metavinculin,
• Gene location: 10q22.2 (73998115: 74121362)     Exons: 22     NC_000010.11
• Gene summary(Entrez): 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 di
• OMIM: 193065

Protein Summary

• Protein general information: P18206  
  • Name: Vinculin (Metavinculin) (MV)
  • Length: 1134  
  • Mass: 123799
  • Tissue specificity: Metavinculin is muscle-specific.
• Sequence:

  MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMP
  PAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEV
  VETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEE
  ALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIR
  QILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLE
  AMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRR
  QGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAE
  GHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFS
  DTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQV
  VSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLV
  AGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRIL
  GAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMM
  AARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHR
  EATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLL
  QVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLR
  WVRKTPWYQ

• Structural information:
  • Interpro: IPR036723  IPR017997  IPR006077  IPR000633  
  • Prosite: PS00663 PS00664
  • PDB: 1RKC 1RKE 1SYQ 1TR2 1YDI 2GWW 2HSQ 2IBF 3H2U 3H2V 3JBK 3MYI 3RF3 3S90 3TJ5 3TJ6 3VF0 4DJ9 4EHP 4LN2 4LNP 4PR9 5L0C 5L0D 5L0F 5L0G 5L0H 5L0I 5L0J 5O2Q 6FUY
  • PDBsum: 1RKC 1RKE 1SYQ 1TR2 1YDI 2GWW 2HSQ 2IBF 3H2U 3H2V 3JBK 3MYI 3RF3 3S90 3TJ5 3TJ6 3VF0 4DJ9 4EHP 4LN2 4LNP 4PR9 5L0C 5L0D 5L0F 5L0G 5L0H 5L0I 5L0J 5O2Q 6FUY
  • DIP: 35570
  • STRING: ENSP00000211998
• Other Databases: GeneCards:  VCL  Malacards:  VCL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903140	regulation of establishment of endothelial barrier	IDA	biological process
GO:0005912	adherens junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904702	regulation of protein localization to adherens junction	IMP	biological process
GO:0005911	cell-cell junction	IMP	cellular component
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0044291	cell-cell contact zone	IMP	cellular component
GO:0005925	focal adhesion	IMP	cellular component
GO:0051893	regulation of focal adhesion assembly	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042383	sarcolemma	ISS	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048675	axon extension	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0030032	lamellipodium assembly	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0043034	costamere	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005916	fascia adherens	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0008013	beta-catenin binding	ISS	molecular function
GO:0045296	cadherin binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005912	adherens junction	IDA	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0034333	adherens junction assembly	IMP	biological process
GO:0005925	focal adhesion	IDA	cellular component
GO:0002009	morphogenesis of an epithelium	IMP	biological process
GO:0034394	protein localization to cell surface	IMP	biological process
GO:0090136	epithelial cell-cell adhesion	IMP	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0003779	actin binding	IDA	NOT|molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0070527	platelet aggregation	HMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043297	apical junction assembly	IMP	biological process
GO:0030336	negative regulation of cell migration	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045294	alpha-catenin binding	IPI	molecular function
GO:0030032	lamellipodium assembly	ISS	biological process
GO:0005912	adherens junction	ISS	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:0043034	costamere	ISS	cellular component
GO:0030055	cell-substrate junction	NAS	cellular component
GO:0005925	focal adhesion	ISS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002162	dystroglycan binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04670	Leukocyte transendothelial migration
hsa05146	Amoebiasis
hsa05100	Bacterial invasion of epithelial cells
hsa04520	Adherens junction

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
hypertrophic cardiomyopathy	PMID:16236538
Cardiomyopathy	PMID:16236538
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881