ITGA7

The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq]

Full Name

integrin, alpha 7

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.

Biological Process

Cell-matrix adhesionManual Assertion Based On ExperimentTAS:ProtInc
Endodermal cell differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Heterotypic cell-cell adhesionManual Assertion Based On ExperimentIMP:UniProtKB
Integrin-mediated signaling pathwayIEA:UniProtKB-KW
Muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc
Regulation of cell shapeIEA:UniProtKB-KW
Skeletal muscle tissue developmentIEA:Ensembl

Cellular Location

Membrane

Involvement in disease

Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI):
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.

Topology

Extracellular: 34-1082
Helical: 1083-1103
Cytoplasmic: 1104-1181

PTM

ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.
A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin.