| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cell junction, desmosome. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=1b; IsoId=Q13835-1; Sequence=Displayed; Name=1; Synonyms=1a; IsoId=Q13835-2; Sequence=VSP_006735; TISSUE SPECIFICITY: Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia. DISEASE: Defects in PKP1 are the cause of ectodermal dysplasia- skin fragility syndrome (EDSFS) [MIM:604536]; also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. SIMILARITY: Belongs to the beta-catenin family. SIMILARITY: Contains 9 ARM repeats. GENE SYNONYMS:PKP1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 747 AA; 82861 MW; 60C1BCCC50AB4E6F CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:9023,
urn:biopax:RelationshipXref:NCBI GENE_5317,
urn:biopax:RelationshipXref:REFSEQ_NP_000290,
urn:biopax:RelationshipXref:REFSEQ_NP_001005337,
urn:biopax:UnificationXref:UNIPROT_O00645,
urn:biopax:UnificationXref:UNIPROT_Q13835,
urn:biopax:UnificationXref:UNIPROT_Q14CA0,
urn:biopax:UnificationXref:UNIPROT_Q15152
|
| biopax3:displayName |
PKP1_HUMAN
|
| biopax3:name |
B6P,
Band 6 protein,
PKP1
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:PKP1_HUMAN_1,
urn:biopax:ModificationFeature:PKP1_HUMAN_2,
urn:biopax:ModificationFeature:PKP1_HUMAN_3,
urn:biopax:ModificationFeature:PKP1_HUMAN_4,
urn:biopax:ModificationFeature:PKP1_HUMAN_5,
urn:biopax:ModificationFeature:PKP1_HUMAN_6,
urn:biopax:ModificationFeature:PKP1_HUMAN_7
|
| biopax3:organism | |
| biopax3:sequence |
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELLALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLHNLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF
|
| biopax3:standardName |
Plakophilin-1
|