ENSG00000003137


Homo sapiens

Features
Gene ID: ENSG00000003137
  
Biological name :CYP26B1
  
Synonyms : CYP26B1 / cytochrome P450 family 26 subfamily B member 1 / Q9NR63
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p13.2
Gene start: 72129238
Gene end: 72148038
  
Corresponding Affymetrix probe sets: 219825_at (Human Genome U133 Plus 2.0 Array)   234721_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000001146
Ensembl peptide - ENSP00000443304
Ensembl peptide - ENSP00000430888
Ensembl peptide - ENSP00000430871
Ensembl peptide - ENSP00000401465
NCBI entrez gene - 56603     See in Manteia.
OMIM - 605207
RefSeq - XM_011532988
RefSeq - NM_001277742
RefSeq - NM_019885
RefSeq - XM_005264433
RefSeq Peptide - NP_001264671
RefSeq Peptide - NP_063938
swissprot - E7ER08
swissprot - E5RHM2
swissprot - E5RHN4
swissprot - Q9NR63
Ensembl - ENSG00000003137
  
Related genetic diseases (OMIM): 614416 - Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
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
 cyp26b1ENSDARG00000077121Danio rerio
 CYP26B1ENSGALG00000016102Gallus gallus
 Q811W2ENSMUSG00000063415Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6V0L0 / CYP26C1 / cytochrome P450 family 26 subfamily C member 1ENSG0000018755352
O43174 / CYP26A1 / cytochrome P450 family 26 subfamily A member 1ENSG0000009559641
Q16850 / CYP51A1 / cytochrome P450 family 51 subfamily A member 1ENSG0000000163020


Protein motifs (from Interpro)
Interpro ID Name
 IPR001128  Cytochrome P450
 IPR002403  Cytochrome P450, E-class, group IV
 IPR017972  Cytochrome P450, conserved site
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001709 cell fate determination ISS
 biological_processGO:0001768 establishment of T cell polarity IEA
 biological_processGO:0006766 vitamin metabolic process TAS
 biological_processGO:0006805 xenobiotic metabolic process IDA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007140 male meiotic nuclear division ISS
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0009954 proximal/distal pattern formation ISS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0016125 sterol metabolic process IBA
 biological_processGO:0030326 embryonic limb morphogenesis ISS
 biological_processGO:0034653 retinoic acid catabolic process IDA
 biological_processGO:0042573 retinoic acid metabolic process IEA
 biological_processGO:0043587 tongue morphogenesis IEA
 biological_processGO:0045580 regulation of T cell differentiation IEA
 biological_processGO:0048384 retinoic acid receptor signaling pathway IEA
 biological_processGO:0048385 regulation of retinoic acid receptor signaling pathway IEA
 biological_processGO:0048387 negative regulation of retinoic acid receptor signaling pathway TAS
 biological_processGO:0055114 oxidation-reduction process IDA
 biological_processGO:0060349 bone morphogenesis IMP
 biological_processGO:0061436 establishment of skin barrier IEA
 biological_processGO:0070268 cornification IEA
 biological_processGO:0071300 cellular response to retinoic acid IEA
 biological_processGO:2001037 positive regulation of tongue muscle cell differentiation IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0001972 retinoic acid binding IDA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008401 retinoic acid 4-hydroxylase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IDA
 molecular_functionGO:0020037 heme binding NAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Vitamins
RA biosynthesis pathway
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)


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:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0001166 Arachnodactyly "Abnormally long and slender fingers ("spider fingers")." [HPO:curators]
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0002085 Occipital encephalocele 
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 HP:0003041 Radiohumeral synostosis "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators]
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 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000166426 CRABP1 / P29762 / cellular retinoic acid binding protein 1  / reaction






 

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