| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBUNIT: Heterodimer 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. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes. ALTERNATIVE PRODUCTS: Event=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; TISSUE SPECIFICITY: Integrin 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. DOMAIN: The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230. DISEASE: Defects in ITGB4 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. DISEASE: Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. SIMILARITY: Belongs to the integrin beta chain family. SIMILARITY: Contains 1 Calx-beta domain. SIMILARITY: Contains 4 fibronectin type-III domains. SIMILARITY: Contains 1 PSI domain. SIMILARITY: Contains 1 VWFA domain. SEQUENCE CAUTION: Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1; Type=Frameshift; Positions=1414, 1429; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB4"; GENE SYNONYMS:ITGB4. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1822 AA; 202167 MW; 09710FFBBD719469 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:6158,
urn:biopax:RelationshipXref:NCBI GENE_3691,
urn:biopax:RelationshipXref:REFSEQ_NP_000204,
urn:biopax:RelationshipXref:REFSEQ_NP_001005619,
urn:biopax:RelationshipXref:REFSEQ_NP_001005731,
urn:biopax:UnificationXref:UNIPROT_A0AVL6,
urn:biopax:UnificationXref:UNIPROT_O14690,
urn:biopax:UnificationXref:UNIPROT_O14691,
urn:biopax:UnificationXref:UNIPROT_O15339,
urn:biopax:UnificationXref:UNIPROT_O15340,
urn:biopax:UnificationXref:UNIPROT_O15341,
urn:biopax:UnificationXref:UNIPROT_P16144,
urn:biopax:UnificationXref:UNIPROT_Q9UIQ4
|
| biopax3:displayName |
ITB4_HUMAN
|
| biopax3:name |
CD104,
GP150,
ITGB4
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:ITB4_HUMAN_1,
urn:biopax:ModificationFeature:ITB4_HUMAN_2,
urn:biopax:ModificationFeature:ITB4_HUMAN_3,
urn:biopax:ModificationFeature:ITB4_HUMAN_4,
urn:biopax:ModificationFeature:ITB4_HUMAN_5,
urn:biopax:ModificationFeature:ITB4_HUMAN_6,
urn:biopax:ModificationFeature:ITB4_HUMAN_7
|
| biopax3:organism | |
| biopax3:sequence |
MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRRCNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYRTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGRCHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEFVSRTLTTSGTLSTHMDQQFFQT
|
| biopax3:standardName |
Integrin beta-4
|