| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Regulatory subunit of glucosidase II. PATHWAY: Glycan metabolism; N-glycan metabolism. SUBUNIT: Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14314-1; Sequence=Displayed; Name=2; IsoId=P14314-2; Sequence=VSP_043749; DISEASE: Defects in PRKCSH are a cause of polycystic liver disease (PCLD) [MIM:174050]. PCLD is an autosomal dominant disorder and is characterized by the presence of multiple liver cysts of biliary epithelial origin. PCLD is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD) [MIM:173900], which in a considerable but uncertain proportion of cases is associated with hepatic cysts. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 1 PRKCSH domain. SEQUENCE CAUTION: Sequence=AAH15154.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRKCSH"; GENE SYNONYMS:PRKCSH G19P1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 528 AA; 59425 MW; 8DAD9776037E878E CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:9411,
urn:biopax:RelationshipXref:NCBI GENE_5589,
urn:biopax:RelationshipXref:REFSEQ_NP_001001329,
urn:biopax:RelationshipXref:REFSEQ_NP_002734,
urn:biopax:UnificationXref:UNIPROT_A8K318,
urn:biopax:UnificationXref:UNIPROT_P14314,
urn:biopax:UnificationXref:UNIPROT_Q96BU9,
urn:biopax:UnificationXref:UNIPROT_Q96D06,
urn:biopax:UnificationXref:UNIPROT_Q9P0W9
|
| biopax3:displayName |
GLU2B_HUMAN
|
| biopax3:name |
80K-H protein,
Glucosidase II subunit beta,
PKCSH,
PRKCSH,
Protein kinase C substrate 60.1 kDa protein heavy chain
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKDGSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKGRKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVKEEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPELDTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEPKEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYDEQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTTNEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTTVRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL
|
| biopax3:standardName |
Glucosidase 2 subunit beta
|