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MGP001647

UniProt Annotations

Entry Information
Gene Nameintegrin, alpha 6
Protein EntryITA6_HUMAN
UniProt IDP23229
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=8; Comment=Additional isoforms seem to exist. There is a combination of at least four alternatively spliced domains, two extracellular (X1 and X2) and two cytoplasmic (A and B). So far detected are isoform Alpha-6X1A, isoform Alpha-6X1B and isoform Alpha-6X1X2A (minor). Experimental confirmation may be lacking for some isoforms.; Name=Alpha-6X1X2B; IsoId=P23229-1; Sequence=Displayed; Name=Alpha-6X1A; IsoId=P23229-2; Sequence=VSP_002724, VSP_002725; Note=Contains a phosphoserine at position 1064.; Name=Alpha-6X1B; IsoId=P23229-3; Sequence=VSP_002724; Name=Alpha-6X2A; IsoId=P23229-4; Sequence=VSP_002723, VSP_002725; Note=Contains a phosphoserine at position 1059.; Name=Alpha-6X2B; IsoId=P23229-5; Sequence=VSP_002723; Name=Alpha-6X1X2A; IsoId=P23229-6; Sequence=VSP_002725; Note=Contains a phosphoserine at position 1103.; Name=7; IsoId=P23229-7; Sequence=VSP_036406, VSP_002723, VSP_002725; Name=9; IsoId=P23229-9; Sequence=VSP_036407, VSP_002725;
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIntegrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome. {ECO:0000269|PubMed:17303120}.
InteractionP16144:ITGB4; NbExp=3; IntAct=EBI-2436548, EBI-948678;
PtmIn invasive prostate cancer ITGA6 undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner enhancing cell invasion and migration in vitro. {ECO:0000269|PubMed:17303120}.
PtmIsoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation. Phosphorylation occurs on 'Ser-1103' of isoform alpha-6X1X2A. Phosphorylation is not required for the induction of integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand.
PtmPalmitoylation by DHHC3 enhances stability and cell surface expression. {ECO:0000269|PubMed:15611341, ECO:0000269|PubMed:22314500}.
Sequence CautionSequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the integrin alpha chain family. {ECO:0000305}.
SimilarityContains 7 FG-GAP repeats. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:22314500}; Single-pass type I membrane protein {ECO:0000269|PubMed:22314500}. Cell membrane {ECO:0000269|PubMed:22314500}; Lipid-anchor {ECO:0000269|PubMed:22314500}.
SubunitHeterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-6 associates with either beta-1 or beta-4. Interacts with HPS5. Interacts with RAB21. {ECO:0000269|PubMed:16754960}.
Tissue SpecificityIntegrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum, myoblasts and myotubes, and in a limited number of cell lines; they are always coexpressed with the ubiquitous isoform containing segment X1. In some tissues (e.g. Salivary gland), isoforms containing cytoplasmic segment A and isoforms containing segment B are detected while in others, only isoforms containing one cytoplasmic segment are found (segment A in epidermis and segment B in kidney). {ECO:0000269|PubMed:7681434}.
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