PPIB
entrez
5479
canonical
uniprot
P23284
canonical
ensembl
ENSG00000166794
resolver
ensp
ENSP00000300026
resolver
enst
ENST00000300026
resolver
genesymbol
PPIB
resolver
genesymbol_syn
CYPB
resolver
hgnc
HGNC:9255
resolver
uniprot
A8K534
resolver
uniprot
Q6IBH5
resolver
uniprot
Q9BVK5
resolver
uniprot_entry
PPIB_HUMAN
resolver
uniprot_sec
A8K534
resolver
uniprot_sec
Q6IBH5
resolver
uniprot_sec
Q9BVK5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by cyclosporin A (CsA). {ECO:0000305|PubMed:20676357}.
uniprot
proteins
amino_acid_sequence
MLRLSERNMKVLLAAALIAGSVFFLLLPGPSAADEKKKGPKVTVKVYFDLRIGDEDVGRVIFGLFGKTVPKTVDNFVALATGEKGFGYKNSKFHRVIKDFMIQGGDFTRGDGTGGKSIYGERFPDENFKLKHYGPGWVSMANAGKDTNGSQFFITTVKTAWLDGKHVVFGKVLEGMEVVRKVESTKTDSRDKPLKDVIIADCGKIEVEKPFAIAKE
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 9 (OI9) [MIM:259440]: A form of osteogenesis imperfecta, a disorder of bone formation 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.2.1.8
uniprot
proteins
function
FUNCTION: Peptidyl-prolyl cis-trans isomerase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. {ECO:0000269|PubMed:20676357}.
uniprot
proteins
mass_dalton
23743
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="K->A: Impairs interaction with CLGN and CANX."; /evidence="ECO:0000269|PubMed:20801878
uniprot
proteins
protein_family
Cyclophilin-type PPIase family
uniprot
proteins
protein_family
PPIase B subfamily
uniprot
proteins
pubmed
12475965
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1530944
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
1710767
uniprot
proteins
pubmed
19781681
uniprot
proteins
pubmed
2000394
uniprot
proteins
pubmed
20089953
uniprot
proteins
pubmed
20147391
uniprot
proteins
pubmed
2040592
uniprot
proteins
pubmed
20676357
uniprot
proteins
pubmed
20801878
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21280149
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39245686
uniprot
proteins
pubmed
8197205
uniprot
proteins
sequence_length
216
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Virion {ECO:0000269|PubMed:20147391}. Note=(Microbial infection).; SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:1530944}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269|PubMed:17081065}.
uniprot
proteins