| Tag | Content |
|---|---|
| Uniprot ID | Q9NR63; B2R8M7; B7Z2K6; B7Z2P4; B7Z3B8; E4W5W7; Q32MC0; Q53TW1; Q9NP41; |
| Entrez ID | 56603 |
| Genbank protein ID | AAF76003.1; ACR19332.1; BAH11930.1; AAI09206.1; BAH11892.1; BAH12154.1; AAY14690.1; AAH69443.1; BAG36224.1; |
| Genbank nucleotide ID | NM_019885.3; NM_001277742.1; |
| Ensembl protein ID | ENSP00000001146; ENSP00000443304; |
| Ensembl nucleotide ID | ENSG00000003137 |
| Gene name | Cytochrome P450 26B1 |
| Gene symbol | CYP26B1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation (PubMed:10823918, PubMed:22020119). Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA (PubMed:10823918). Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 (PubMed:10823918, PubMed:22020119). Essential for postnatal survival (By similarity). Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis (By similarity). 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 (By similarity). 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). |
| Sequence | MLFEGLDLVS ALATLAACLV SVTLLLAVSQ QLWQLRWAAT RDKSCKLPIP KGSMGFPLIG 60 ETGHWLLQGS GFQSSRREKY GNVFKTHLLG RPLIRVTGAE NVRKILMGEH HLVSTEWPRS 120 TRMLLGPNTV SNSIGDIHRN KRKVFSKIFS HEALESYLPK IQLVIQDTLR AWSSHPEAIN 180 VYQEAQKLTF RMAIRVLLGF SIPEEDLGHL FEVYQQFVDN VFSLPVDLPF SGYRRGIQAR 240 QILQKGLEKA IREKLQCTQG KDYLDALDLL IESSKEHGKE MTMQELKDGT LELIFAAYAT 300 TASASTSLIM QLLKHPTVLE KLRDELRAHG ILHSGGCPCE GTLRLDTLSG LRYLDCVIKE 360 VMRLFTPISG GYRTVLQTFE LDGFQIPKGW SVMYSIRDTH DTAPVFKDVN VFDPDRFSQA 420 RSEDKDGRFH YLPFGGGVRT CLGKHLAKLF LKVLAVELAS TSRFELATRT FPRITLVPVL 480 HPVDGLSVKF FGLDSNQNEI LPETEAMLSA TV 512 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.