RBCC Red Blood Cell Collection

PPIB_HUMAN

Source: PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: PPIB , CYPB
Protein names and data: PPIB_HUMAN , Peptidyl-prolyl cis-trans isomerase B; PPIase B; 5.2.1.8 , CYP-S1; Cyclophilin B; Rotamase B; S-cyclophilin; SCYLP; Flags: Precursor Lenght: 216 a.a.
Mass: 23743 Da
fasta formatted sequence
Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0).
Disease: ( OMIM: 123841 259440 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Genetic variants

9 - 9 M -> R (in OI9; patients have white sclerae, normal dentition, no rhizomelia or severe deformity of long bones). VAR_063436
60 - 60 V -> L (in dbSNP:rs11558595). VAR_047711 11558595

Database cross-references

UniProt: P23284
Ensembl: ENST00000300026
MIM: 123841
MIM: 259440
neXtProt: NX_P23284
Antibodypedia: P23284 (may not find the protein thus also not any antibody)
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