ENSG00000166794


Homo sapiens

Features
Gene ID: ENSG00000166794
  
Biological name :PPIB
  
Synonyms : P23284 / peptidylprolyl isomerase B / PPIB
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q22.31
Gene start: 64155812
Gene end: 64163205
  
Corresponding Affymetrix probe sets: 200967_at (Human Genome U133 Plus 2.0 Array)   200968_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300026
NCBI entrez gene - 5479     See in Manteia.
OMIM - 123841
RefSeq - NM_000942
RefSeq Peptide - NP_000933
swissprot - P23284
Ensembl - ENSG00000166794
  
Related genetic diseases (OMIM): 259440 - Osteogenesis imperfecta, type IX, 259440
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ppibENSDARG00000092798Danio rerio
 PPIBENSGALG00000002210Gallus gallus
 PpibENSMUSG00000032383Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PPIC / P45877 / peptidylprolyl isomerase CENSG0000016893862
PPIH / O43447 / peptidylprolyl isomerase HENSG0000017196045
PPWD1 / Q96BP3 / peptidylprolyl isomerase domain and WD repeat containing 1ENSG0000011359338
PPIL1 / Q9Y3C6 / peptidylprolyl isomerase like 1ENSG0000013716836
PPIL6 / Q8IXY8 / peptidylprolyl isomerase like 6ENSG0000018525036
PPIL2 / Q13356 / peptidylprolyl isomerase like 2ENSG0000010002335
PPIL4 / Q8WUA2 / peptidylprolyl isomerase like 4ENSG0000013101330
CWC27 / Q6UX04 / CWC27 spliceosome associated protein homologENSG0000015301530
PPIL3 / Q9H2H8 / peptidylprolyl isomerase like 3ENSG0000024034424


Protein motifs (from Interpro)
Interpro ID Name
 IPR002130  Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain
 IPR020892  Cyclophilin-type peptidyl-prolyl cis-trans isomerase, conserved site
 IPR024936  Cyclophilin-type peptidyl-prolyl cis-trans isomerase
 IPR029000  Cyclophilin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000413 protein peptidyl-prolyl isomerization ISS
 biological_processGO:0006457 protein folding IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0044794 positive regulation by host of viral process IMP
 biological_processGO:0044829 positive regulation by host of viral genome replication IMP
 biological_processGO:0050821 protein stabilization IMP
 biological_processGO:0060348 bone development IMP
 biological_processGO:0061077 chaperone-mediated protein folding IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005790 smooth endoplasmic reticulum IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0034663 endoplasmic reticulum chaperone complex IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003755 peptidyl-prolyl cis-trans isomerase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding ISS
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0044877 protein-containing complex binding ISS
 molecular_functionGO:0051082 unfolded protein binding TAS
 molecular_functionGO:0070063 RNA polymerase binding IPI


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000592 Blue sclerae 
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 HP:0000703 Dentinogenesis imperfecta 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0002645 Wormian bones 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0003023 Bowing of limbs due to multiple fractures "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators]
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 HP:0005855 Multiple prenatal fractures "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators]
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 HP:0008873 Short stature, disproportionate short-limbed "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000117385 P3H1 / Q32P28 / prolyl 3-hydroxylase 1  / complex
 ENSG00000170275 CRTAP / O75718 / cartilage associated protein  / complex






 

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