| Tag | Content |
|---|---|
| Uniprot ID | Q64654; Q64549; |
| Entrez ID | 25427 |
| Genbank protein ID | BAA20354.1; AAA87074.1; AAH87033.1; BAA09529.1; |
| Genbank nucleotide ID | NM_012941.2 |
| Ensembl protein ID | ENSRNOP00000009985 |
| Ensembl nucleotide ID | ENSRNOG00000007234 |
| Gene name | Lanosterol 14-alpha demethylase |
| Gene symbol | Cyp51a1 |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25-dihydrolanosterol likely through sequential oxidative conversion of 14-alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid (PubMed:7665087, PubMed:10544287, PubMed:11328599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:7665087, PubMed:10544287, PubMed:11328599). |
| Sequence | MVLLGLLQSG GSVLGQAMEQ VTGGNLLSTL LIACAFTLSL VYLFRLAVGH MVQLPAGAKS 60 PPYIYSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM VGKTFTYLLG SDAAALLFNS 120 KNEDLNAEEV YGRLTTPVFG KGVAYDVPNA VFLEQKKILK SGLNIAHFKQ YVSIIEKEAK 180 EYFKSWGESG ERNVFEALSE LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFSHAAWL 240 LPGWLPLPSF RRRDRAHREI KNIFYKAIQK RRLSKEPAED ILQTLLDSTY KDGRPLTDDE 300 IAGMLIGLLL AGQHTSSTTS AWMGFFLARD KPLQDKCYLE QKTVCGEDLP PLTYEQLKDL 360 NLLDRCIKET LRLRPPIMTM MRMAKTPQTV AGYTIPPGHQ VCVSPTVNQR LKDSWVERLD 420 FNPDRYLQDN PASGEKFAYV PFGAGRHRCI GENFAYVQIK TIWSTMLRLY EFDLINGYFP 480 SVNYTTMIHT PENPVIRYKR RSK 503 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | CYP51A1 | 505060 | Q4PJW3 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | CYP51A1 | 102177400 | A0A452E234 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | CYP51A1 | 1595 | A0A0C4DFL7 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Cyp51a1 | 13121 | Q8K0C4 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | CYP51A1 | 403334 | O46420 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Cyp51a1 | 25427 | Q64654 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | cyp51 | 414331 | Q1JPY5 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005783 | endoplasmic reticulum |
| GO:0005789 | endoplasmic reticulum membrane |
| GO:0016021 | integral component of membrane |
| GO:0043231 | intracellular membrane-bounded organelle |
| GO:0005886 | plasma membrane |
| GO:0020037 | heme binding |
| GO:0005506 | iron ion binding |
| GO:0016491 | oxidoreductase activity |
| GO:0008398 | sterol 14-demethylase activity |
| GO:0033488 | cholesterol biosynthetic process via 24,25-dihydrolanosterol |
| GO:1900222 | negative regulation of amyloid-beta clearance |
| GO:0042177 | negative regulation of protein catabolic process |
| GO:0050709 | negative regulation of protein secretion |
| GO:0055114 | oxidation-reduction process |
| GO:0045540 | regulation of cholesterol biosynthetic process |
| GO:0006694 | steroid biosynthetic process |
| GO:0016126 | sterol biosynthetic process |
| GO:0016125 | sterol metabolic process |
| Keyword ID | Keyword Term |
|---|---|
| KW-0152 | Cholesterol biosynthesis |
| KW-0153 | Cholesterol metabolism |
| KW-0903 | Direct protein sequencing |
| KW-0256 | Endoplasmic reticulum |
| KW-0349 | Heme |
| KW-0408 | Iron |
| KW-0444 | Lipid biosynthesis |
| KW-0443 | Lipid metabolism |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0492 | Microsome |
| KW-0503 | Monooxygenase |
| KW-0560 | Oxidoreductase |
| KW-1185 | Reference proteome |
| KW-0752 | Steroid biosynthesis |
| KW-0753 | Steroid metabolism |
| KW-0756 | Sterol biosynthesis |
| KW-1207 | Sterol metabolism |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| PROSITE ID | PROSITE Term |
|---|---|
| PS00086 | CYTOCHROME_P450 |
| Pfam ID | Pfam Term |
|---|---|
| PF00067 | p450 |