ITGB4
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Full Name
Integrin Subunit Beta 4
Function
Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778).
ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760).
ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464).
Biological Process
AutophagyManual Assertion Based On ExperimentIMP:UniProtKB
Cell adhesion1 PublicationNAS:ProtInc
Cell adhesion mediated by integrinManual Assertion Based On ExperimentIBA:GO_Central
Cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Cell motilityManual Assertion Based On ExperimentIMP:UniProtKB
Cell-matrix adhesionManual Assertion Based On ExperimentIMP:UniProtKB
Filopodium assemblyIEA:Ensembl
Hemidesmosome assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Integrin-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Mesodermal cell differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Nail developmentManual Assertion Based On ExperimentIMP:UniProtKB
Peripheral nervous system myelin formationIEA:Ensembl
Response to woundingManual Assertion Based On ExperimentIDA:UniProtKB
Skin morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Trophoblast cell migrationIEA:Ensembl
Cellular Location
Cell membrane; Cell junction, hemidesmosome. Colocalizes with DST at the leading edge of migrating keratinocytes.
Involvement in disease
Epidermolysis bullosa letalis, with pyloric atresia (EB-PA):
An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.
Generalized atrophic benign epidermolysis bullosa (GABEB):
A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS):
A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.
Topology
Extracellular: 28-710
Helical: 711-733
Cytoplasmic: 734-1822
PTM
Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins.
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Datasheet