Homo sapiens Protein: ITGA7
Summary
InnateDB Protein IDBP-38764.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ITGA7
Protein Name integrin, alpha 7
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000257879
InnateDB Gene IDBG-38762 (ITGA7)
Protein Structure
UniProt Annotation
Function Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells. {ECO:0000250, ECO:0000269PubMed:10694445, ECO:0000269PubMed:17641293, ECO:0000269PubMed:9307969}.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI) [MIM:613204]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269PubMed:9590299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes. In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions; isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts and myotubes) and cardiac muscle. {ECO:0000269PubMed:8626012}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0046872 metal ion binding
Biological Process
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007517 muscle organ development
GO:0008360 regulation of cell shape
GO:0030198 extracellular matrix organization
Cellular Component
GO:0005886 plasma membrane
GO:0008305 integrin complex
Protein Structure and Domains
PDB ID
InterPro IPR000413 Integrin alpha chain
IPR013517 FG-GAP repeat
IPR013519 Integrin alpha beta-propellor
IPR013649 Integrin alpha-2
PFAM PF01839
PF14312
PF08441
PRINTS PR01185
PIRSF
SMART SM00191
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13683
PhosphoSite PhosphoSite-Q13683
TrEMBL Q4LE35
UniProt Splice Variant
Entrez Gene 3679
UniGene Hs.524484
RefSeq NP_002197
HUGO HGNC:6143
OMIM 600536
CCDS CCDS8888
HPRD 02761
IMGT
EMBL AB210036 AC009779 AF032108 AF034833 AF052050 AF072132 AJ228836 AJ228837 AJ228838 AJ228839 AJ228840 AJ228841 AJ228842 AJ228843 AJ228844 AJ228845 AJ228846 AJ228847 AJ228848 AJ228849 AJ228850 AJ228851 AJ228852 AJ228853 AJ228854 AJ228855 AJ228856 AJ228857 AJ228858 AJ228859 AJ228860 AJ228862 AK304864 AY358882 BC050280 X74295
GenPept AAB87696 AAC18968 AAC39708 AAC80458 AAH50280 AAQ89241 BAE06118 BAG65602 CAA52348 CAB41534 CAB41535