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MGP001675

UniProt Annotations

Entry Information
Gene Nameintegrin, beta 4
Protein EntryITB4_HUMAN
UniProt IDP16144
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=Beta-4C; IsoId=P16144-1; Sequence=Displayed; Name=Beta-4A; IsoId=P16144-2; Sequence=VSP_002749; Name=Beta-4B; IsoId=P16144-3; Sequence=VSP_002749, VSP_002750; Name=Beta-4D; IsoId=P16144-4; Sequence=VSP_002749, VSP_002751; Name=Beta-4E; IsoId=P16144-5; Sequence=VSP_002747, VSP_002748;
DiseaseEpidermolysis bullosa letalis, with pyloric atresia (EB- PA) [MIM:226730]: 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. {ECO:0000269|PubMed:10873890, ECO:0000269|PubMed:11251584, ECO:0000269|PubMed:11328943, ECO:0000269|PubMed:9422533, ECO:0000269|PubMed:9546354, ECO:0000269|PubMed:9792864, ECO:0000269|PubMed:9892956}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseGeneralized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269|PubMed:10792571}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
FunctionIntegrin 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. {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.
InteractionQ96B67:ARRDC3; NbExp=3; IntAct=EBI-948678, EBI-2875665; Q8R5M8-2:Cadm1 (xeno); NbExp=3; IntAct=EBI-948678, EBI-5651941; P23229:ITGA6; NbExp=3; IntAct=EBI-948678, EBI-2436548; Q15149:PLEC; NbExp=7; IntAct=EBI-948678, EBI-297903;
PtmPalmitoylated by DHHC3 at several cysteines of the membrane- proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secundary association with tertaspanins. {ECO:0000269|PubMed:15611341, ECO:0000269|PubMed:22314500}.
Sequence CautionSequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Evidence={ECO:0000305}; Sequence=CAA37656.1; Type=Frameshift; Positions=1414, 1429; Evidence={ECO:0000305};
SimilarityBelongs to the integrin beta chain family. {ECO:0000305}.
SimilarityContains 1 Calx-beta domain. {ECO:0000305}.
SimilarityContains 1 PSI domain. {ECO:0000305}.
SimilarityContains 1 VWFA domain. {ECO:0000305}.
SimilarityContains 4 fibronectin type-III domains. {ECO:0000255|PROSITE-ProRule:PRU00316}.
Subcellular LocationCell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes.
SubunitHeterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. {ECO:0000269|PubMed:10637308, ECO:0000269|PubMed:11375975, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.
Tissue SpecificityIntegrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
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