Homo sapiens Protein: ITGA6 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-75106.7 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | ITGA6 | ||||||||||||||||||||||||
Protein Name | integrin, alpha 6 | ||||||||||||||||||||||||
Synonyms | CD49f; ITGA6B; VLA-6; | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000264107 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-75102 (ITGA6) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Integrin 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:0000269PubMed:17303120}. | ||||||||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000269PubMed:22314500}; Single-pass type I membrane protein {ECO:0000269PubMed:22314500}. Cell membrane {ECO:0000269PubMed:22314500}; Lipid-anchor {ECO:0000269PubMed:22314500}. | ||||||||||||||||||||||||
Disease Associations | Epidermolysis 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. | ||||||||||||||||||||||||
Tissue Specificity | Integrin 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:0000269PubMed:7681434}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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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 IPR018184 Integrin alpha chain, C-terminal cytoplasmic region, conserved site |
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PFAM |
PF01839
PF14312 PF08441 PF00357 |
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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 | P23229 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P23229 | ||||||||||||||||||||||||
TrEMBL | C9JXX7 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 3655 | ||||||||||||||||||||||||
UniGene | Hs.613769 | ||||||||||||||||||||||||
RefSeq | NP_000201 | ||||||||||||||||||||||||
HUGO | HGNC:6142 | ||||||||||||||||||||||||
OMIM | 147556 | ||||||||||||||||||||||||
CCDS | CCDS2249 | ||||||||||||||||||||||||
HPRD | 00945 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AB208842 AC078883 AF166335 AF166336 AF166337 AF166338 AF166339 AF166340 AF166341 AF166342 AF166343 AK294436 AK296496 BC050585 BC136455 BC136456 CH471058 DQ858220 L40385 S52135 S66196 S66213 X53586 X59512 | ||||||||||||||||||||||||
GenPept | AAB20354 AAB20355 AAB24829 AAD48469 AAH50585 AAI36456 AAI36457 AAX93133 ABH11650 BAD92079 BAG57680 BAG59130 CAA37655 CAA42099 EAX11176 EAX11177 | ||||||||||||||||||||||||