ENSG00000185624


Homo sapiens

Features
Gene ID: ENSG00000185624
  
Biological name :P4HB
  
Synonyms : P07237 / P4HB / prolyl 4-hydroxylase subunit beta
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q25.3
Gene start: 81843159
Gene end: 81860694
  
Corresponding Affymetrix probe sets: 1564494_s_at (Human Genome U133 Plus 2.0 Array)   200654_at (Human Genome U133 Plus 2.0 Array)   200656_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461362
Ensembl peptide - ENSP00000461718
Ensembl peptide - ENSP00000461791
Ensembl peptide - ENSP00000327801
Ensembl peptide - ENSP00000388117
Ensembl peptide - ENSP00000388374
Ensembl peptide - ENSP00000458300
Ensembl peptide - ENSP00000459211
Ensembl peptide - ENSP00000460088
Ensembl peptide - ENSP00000460285
Ensembl peptide - ENSP00000460612
Ensembl peptide - ENSP00000460741
NCBI entrez gene - 5034     See in Manteia.
OMIM - 176790
RefSeq - NM_000918
RefSeq Peptide - NP_000909
swissprot - H7BZ94
swissprot - I3L0S0
swissprot - I3L1Y5
swissprot - I3L312
swissprot - I3L398
swissprot - I3L3P5
swissprot - I3L3U6
swissprot - I3L4M2
swissprot - I3L514
swissprot - I3NI03
swissprot - A0A024R8S5
swissprot - P07237
swissprot - H0Y3Z3
Ensembl - ENSG00000185624
  
Related genetic diseases (OMIM): 112240 - Cole-Carpenter syndrome 1, 112240
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
 p4hbENSDARG00000105116Danio rerio
 P4HBENSGALG00000038290Gallus gallus
 P4hbENSMUSG00000025130Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PDIA2 / Q13087 / protein disulfide isomerase family A member 2ENSG0000018561547
PDIA3 / P30101 / protein disulfide isomerase family A member 3ENSG0000016700432
PDIA4 / P13667 / protein disulfide isomerase family A member 4ENSG0000015566032
PDILT / Q8N807 / protein disulfide isomerase like, testis expressedENSG0000016934032
TMX3 / Q96JJ7 / thioredoxin related transmembrane protein 3ENSG0000016647919
ERP44 / Q9BS26 / endoplasmic reticulum protein 44ENSG0000002331818
ERP27 / Q96DN0 / endoplasmic reticulum protein 27ENSG0000013905516


Protein motifs (from Interpro)
Interpro ID Name
 IPR005788  Disulphide isomerase
 IPR005792  Protein disulphide isomerase
 IPR013766  Thioredoxin domain
 IPR017937  Thioredoxin, conserved site
 IPR036249  Thioredoxin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding IBA
 biological_processGO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
 biological_processGO:0034378 chylomicron assembly TAS
 biological_processGO:0034379 very-low-density lipoprotein particle assembly TAS
 biological_processGO:0034599 cellular response to oxidative stress TAS
 biological_processGO:0034976 response to endoplasmic reticulum stress IMP
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 biological_processGO:0038155 interleukin-23-mediated signaling pathway TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045454 cell redox homeostasis IEA
 biological_processGO:0046598 positive regulation of viral entry into host cell IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0071456 cellular response to hypoxia IMP
 biological_processGO:1902175 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0005576 extracellular region NAS
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016222 procollagen-proline 4-dioxygenase complex IDA
 cellular_componentGO:0034663 endoplasmic reticulum chaperone complex IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003756 protein disulfide isomerase activity TAS
 molecular_functionGO:0004656 procollagen-proline 4-dioxygenase activity IDA
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015037 peptide disulfide oxidoreductase activity IDA
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes
Detoxification of Reactive Oxygen Species
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Hedgehog ligand biogenesis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Interleukin-12 signaling
Interleukin-23 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000238 Hydrocephalus 
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 HP:0000262 Turricephaly "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000520 Proptosis 
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 HP:0000586 Shallow orbits 
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 HP:0000592 Blue sclerae 
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 HP:0000682 Abnormality of dental enamel "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0000772 Abnormality of the ribs 
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001334 Communicating hydrocephalus 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001620 High pitched voice 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [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:0002652 Skeletal dysplasia 
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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:0002953 Vertebral compression fractures 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004440 Coronal craniosynostosis 
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 HP:0005472 Orbital craniosynostosis 
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 HP:0005692 Joint hyperflexibility 
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 HP:0006367 Broad crumpled long bones 
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 HP:0006487 Bowing of the long bones 
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072682 P4HA2 / O15460 / prolyl 4-hydroxylase subunit alpha 2  / complex / reaction
 ENSG00000108821 COL1A1 / P02452 / collagen type I alpha 1 chain  / complex / reaction
 ENSG00000123500 Q03692 / COL10A1 / collagen type X alpha 1 chain  / reaction / complex
 ENSG00000122884 P4HA1 / P13674 / prolyl 4-hydroxylase subunit alpha 1  / complex / reaction
 ENSG00000164294 GPX8 / Q8TED1 / glutathione peroxidase 8 (putative)  / reaction
 ENSG00000168542 COL3A1 / P02461 / collagen type III alpha 1 chain  / reaction / complex
 ENSG00000164692 COL1A2 / P08123 / collagen type I alpha 2 chain  / reaction / complex
 ENSG00000149380 P4HA3 / Q7Z4N8 / prolyl 4-hydroxylase subunit alpha 3  / reaction / complex
 ENSG00000164690 SHH / Q15465 / sonic hedgehog  / reaction / complex
 ENSG00000185624 P4HB / P07237 / prolyl 4-hydroxylase subunit beta  / reaction / complex
 ENSG00000113302 IL12B / P29460 / interleukin 12B  / reaction
 ENSG00000138823 MTTP / P55157 / microsomal triglyceride transfer protein  / complex
 ENSG00000116157 GPX7 / Q96SL4 / glutathione peroxidase 7  / reaction






 

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