Homo sapiens Protein: ITGA7 | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000413
Integrin alpha chain IPR013517 FG-GAP repeat IPR013519 Integrin alpha beta-propellor IPR013649 Integrin alpha-2 |
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PFAM |
PF01839
PF14312 PF08441 |
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PRINTS |
PR01185
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PIRSF | |||||||||||||||||||
SMART |
SM00191
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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 | ||||||||||||||||||