Homo sapiens Protein: PPIB
Summary
InnateDB Protein IDBP-16429.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PPIB
Protein Name peptidylprolyl isomerase B (cyclophilin B)
Synonyms CYP-S1; CYPB; HEL-S-39; OI9; SCYLP;
Species Homo sapiens
Ensembl Protein ENSP00000300026
InnateDB Gene IDBG-16427 (PPIB)
Protein Structure
UniProt Annotation
Function PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
Subcellular Localization Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Disease Associations Osteogenesis 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:0000269PubMed:19781681, ECO:0000269PubMed:20089953}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 54 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 54 [view]
Protein-Protein 54 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0032403 protein complex binding
GO:0042277 peptide binding
GO:0044822 poly(A) RNA binding
GO:0051082 unfolded protein binding
Biological Process
GO:0000413 protein peptidyl-prolyl isomerization
GO:0006457 protein folding
GO:0030198 extracellular matrix organization
GO:0040018 positive regulation of multicellular organism growth
GO:0050821 protein stabilization
GO:0060348 bone development
GO:0061077 chaperone-mediated protein folding
Cellular Component
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005790 smooth endoplasmic reticulum
GO:0016020 membrane
GO:0032991 macromolecular complex
GO:0042470 melanosome
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR002130 Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain
IPR029000 Cyclophilin-like domain
PFAM PF00160
PRINTS PR00153
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P23284
PhosphoSite PhosphoSite-P23284
TrEMBL V9HWC6
UniProt Splice Variant
Entrez Gene 5479
UniGene Hs.737444
RefSeq NP_000933
HUGO HGNC:9255
OMIM 123841
CCDS CCDS10191
HPRD 00458
IMGT
EMBL AC100840 AK291149 AY962310 BC001125 BC008848 BC020800 BC032138 CH471082 CR456829 EU794651 M60457 M60857 M63573
GenPept AAA35733 AAA36601 AAA52150 AAH01125 AAH08848 AAH20800 AAH32138 AAX44050 ACJ13705 BAF83838 CAG33110 EAW77669