| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-22000,
cpath:CPATH-LOCAL-22000,
cpath:CPATH-LOCAL-22001,
cpath:CPATH-LOCAL-22001,
cpath:CPATH-LOCAL-22002,
cpath:CPATH-LOCAL-22002,
cpath:CPATH-LOCAL-22003,
cpath:CPATH-LOCAL-22003,
cpath:CPATH-LOCAL-22004,
cpath:CPATH-LOCAL-22004,
cpath:CPATH-LOCAL-22005,
cpath:CPATH-LOCAL-22005,
cpath:CPATH-LOCAL-22006,
cpath:CPATH-LOCAL-22006,
cpath:CPATH-LOCAL-22007,
cpath:CPATH-LOCAL-22007,
cpath:CPATH-LOCAL-22008,
cpath:CPATH-LOCAL-22008,
cpath:CPATH-LOCAL-22009,
cpath:CPATH-LOCAL-22009,
cpath:CPATH-LOCAL-22010,
cpath:CPATH-LOCAL-22010,
cpath:CPATH-LOCAL-22011,
cpath:CPATH-LOCAL-22011,
cpath:CPATH-LOCAL-22012,
cpath:CPATH-LOCAL-22012,
cpath:CPATH-LOCAL-22013,
cpath:CPATH-LOCAL-22013,
cpath:CPATH-LOCAL-22014,
cpath:CPATH-LOCAL-22014,
cpath:CPATH-LOCAL-22015,
cpath:CPATH-LOCAL-22015,
cpath:CPATH-LOCAL-22016,
cpath:CPATH-LOCAL-22016,
cpath:CPATH-LOCAL-22017,
cpath:CPATH-LOCAL-22017,
cpath:CPATH-LOCAL-27034,
cpath:CPATH-LOCAL-27034
|
| http://www.biopax.org/relea... |
Integrin alpha-6,
Integrin alpha-6
|
| http://www.biopax.org/relea... |
ITA6_HUMAN,
ITA6_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
CD49 antigen-like family member F,
CD49 antigen-like family member F,
CD49f,
CD49f,
Integrin alpha-6 heavy chain,
Integrin alpha-6 heavy chain,
Integrin alpha-6 light chain,
Integrin alpha-6 light chain,
VLA-6,
VLA-6
|
| http://www.biopax.org/relea... |
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. SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. ALTERNATIVE PRODUCTS: Event=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=Phosphorylated on Ser-1064; Name=Alpha-6X1B; IsoId=P23229-3; Sequence=VSP_002724; Name=Alpha-6X2A; IsoId=P23229-4; Sequence=VSP_002723, VSP_002725; Note=Phosphorylated on Ser-1059; Name=Alpha-6X2B; IsoId=P23229-5; Sequence=VSP_002723; Name=Alpha-6X1X2A; IsoId=P23229-6; Sequence=VSP_002725; Note=Phosphorylated on Ser-1103; Name=7; IsoId=P23229-7; Sequence=VSP_036406, VSP_002723, VSP_002725; Name=9; IsoId=P23229-9; Sequence=VSP_036407, VSP_002725; 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). PTM: Isoforms 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. DISEASE: Defects in ITGA6 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is 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. SIMILARITY: Belongs to the integrin alpha chain family. SIMILARITY: Contains 7 FG-GAP repeats. SEQUENCE CAUTION: Sequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA6"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
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. SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. ALTERNATIVE PRODUCTS: Event=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=Phosphorylated on Ser-1064; Name=Alpha-6X1B; IsoId=P23229-3; Sequence=VSP_002724; Name=Alpha-6X2A; IsoId=P23229-4; Sequence=VSP_002723, VSP_002725; Note=Phosphorylated on Ser-1059; Name=Alpha-6X2B; IsoId=P23229-5; Sequence=VSP_002723; Name=Alpha-6X1X2A; IsoId=P23229-6; Sequence=VSP_002725; Note=Phosphorylated on Ser-1103; Name=7; IsoId=P23229-7; Sequence=VSP_036406, VSP_002723, VSP_002725; Name=9; IsoId=P23229-9; Sequence=VSP_036407, VSP_002725; 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). PTM: Isoforms 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. DISEASE: Defects in ITGA6 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is 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. SIMILARITY: Belongs to the integrin alpha chain family. SIMILARITY: Contains 7 FG-GAP repeats. SEQUENCE CAUTION: Sequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA6"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch | |
| skos:closeMatch |