InnateDB Protein
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IDBP-16429.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PPIB
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Protein Name
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peptidylprolyl isomerase B (cyclophilin B)
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Synonyms
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CYP-S1; CYPB; HEL-S-39; OI9; SCYLP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000300026
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InnateDB Gene
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IDBG-16427 (PPIB)
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Protein Structure
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Function |
PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
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Subcellular Localization |
Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
54
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002130
Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain
IPR029000
Cyclophilin-like domain
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PFAM |
PF00160
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PRINTS |
PR00153
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P23284
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PhosphoSite |
PhosphoSite-P23284
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TrEMBL |
V9HWC6
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UniProt Splice Variant |
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Entrez Gene |
5479
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UniGene |
Hs.737444
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RefSeq |
NP_000933
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HUGO |
HGNC:9255
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OMIM |
123841
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CCDS |
CCDS10191
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HPRD |
00458
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IMGT |
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EMBL |
AC100840
AK291149
AY962310
BC001125
BC008848
BC020800
BC032138
CH471082
CR456829
EU794651
M60457
M60857
M63573
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GenPept |
AAA35733
AAA36601
AAA52150
AAH01125
AAH08848
AAH20800
AAH32138
AAX44050
ACJ13705
BAF83838
CAG33110
EAW77669
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