MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002384

UniProt Annotations

Entry Information
Gene Namepeptidylprolyl isomerase B (cyclophilin B)
Protein EntryPPIB_HUMAN
UniProt IDP23284
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityPeptidylproline (omega=180) = peptidylproline (omega=0).
CautionIt is uncertain whether Met-1 or Met-9 is the initiator. {ECO:0000305}.
DiseaseOsteogenesis imperfecta 9 (OI9) [MIM:259440]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder. {ECO:0000269|PubMed:19781681, ECO:0000269|PubMed:20089953}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationCyclosporin A (CsA) inhibits CYPB.
FunctionPPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
InteractionP13667:PDIA4; NbExp=3; IntAct=EBI-8771982, EBI-1054653;
Sequence CautionSequence=AAA52150.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the cyclophilin-type PPIase family. PPIase B subfamily. {ECO:0000305}.
SimilarityContains 1 PPIase cyclophilin-type domain. {ECO:0000255|PROSITE-ProRule:PRU00156}.
Subcellular LocationEndoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
SubunitInteracts with DYM. Interacts with CALR, CLGN and CANX. {ECO:0000269|PubMed:20801878, ECO:0000269|PubMed:21280149}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ppib/";
Web ResourceName=Osteogenesis imperfecta variant database; Note=Peptidyl-prolyl cis-trans isomerase B (PPIB); URL="http://oi.gene.le.ac.uk/home.php?select_db=PPIB";
  logo