CYP26B1
entrez
56603
canonical
uniprot
Q9NR63
canonical
ensembl
ENSG00000003137
resolver
ensp
ENSP00000001146
resolver
ensp
ENSP00000401465
resolver
ensp
ENSP00000443304
resolver
enst
ENST00000412253
resolver
genesymbol
CYP26B1
resolver
genesymbol_syn
CYP26A2
resolver
genesymbol_syn
P450RAI2
resolver
hgnc
HGNC:20581
resolver
uniprot
B2R8M7
resolver
uniprot
B7Z2K6
resolver
uniprot
B7Z2P4
resolver
uniprot
B7Z3B8
resolver
uniprot
E4W5W7
resolver
uniprot
E7ER08
resolver
uniprot
Q32MC0
resolver
uniprot
Q53TW1
resolver
uniprot
Q9NP41
resolver
uniprot_entry
CP26B_HUMAN
resolver
uniprot_entry
E7ER08_HUMAN
resolver
uniprot_sec
B2R8M7
resolver
uniprot_sec
B7Z2K6
resolver
uniprot_sec
B7Z2P4
resolver
uniprot_sec
B7Z3B8
resolver
uniprot_sec
E4W5W7
resolver
uniprot_sec
Q32MC0
resolver
uniprot_sec
Q53TW1
resolver
uniprot_sec
Q9NP41
resolver
amino_acid_sequence
MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVFKTHLLGRPLIRVTGAENVRKILMGEHHLVSTEWPRSTRMLLGPNTVSNSIGDIHRNKRKVFSKIFSHEALESYLPKIQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHLFEVYQQFVDNVFSLPVDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKEHGKEMTMQELKDGTLELIFAAYATTASASTSLIMQLLKHPTVLEKLRDELRAHGILHSGGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTVLQTFELDGFQIPKGWSVMYSIRDTHDTAPVFKDVNVFDPDRFSQARSEDKDGRFHYLPFGGGVRTCLGKHLAKLFLKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAMLSATV
uniprot
proteins
disease_involvement
DISEASE: Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. {ECO:0000269|PubMed:22019272}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.13.-
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the hydroxylation of atRA primarily at C-4 and C-18, thereby contributing to the regulation of atRA homeostasis and signaling (PubMed:10823918). Hydroxylation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination (PubMed:10823918, PubMed:22020119). Involved in the conversion of atRA to all-trans-4-oxo-RA. Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8-epoxy-DRA, and all-trans-18-hydroxy-DRA (By similarity). Shows preference for the following substrates: atRA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Plays a central role in germ cell development: acts by degrading RAs in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints (PubMed:22019272). Essential for postnatal survival (By similarity). {ECO:0000250|UniProtKB:Q811W2, ECO:0000269|PubMed:10823918, ECO:0000269|PubMed:22019272, ECO:0000269|PubMed:22020119, ECO:0000305|PubMed:22020119}.; FUNCTION: Also has a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo. {ECO:0000269|PubMed:26937021}.
uniprot
proteins
mass_dalton
57513
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10823918
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
22019272
uniprot
proteins
pubmed
22020119
uniprot
proteins
pubmed
26937021
uniprot
proteins
sequence_length
512
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:O43174}; Peripheral membrane protein {ECO:0000250|UniProtKB:O43174}. Microsome membrane {ECO:0000250|UniProtKB:O43174}; Peripheral membrane protein {ECO:0000250|UniProtKB:O43174}.
uniprot
proteins