Gene: CYP51A1

Basic information

Tag Content
Uniprot ID O46420
Entrez ID 403334
Genbank protein ID BAA96092.1; BAA24134.1;
Genbank nucleotide ID NM_214432.1
Ensembl protein ID ENSSSCP00070024028; ENSSSCP00065023290; ENSSSCP00000041656; ENSSSCP00055036514; ENSSSCP00005043505;
Ensembl nucleotide ID ENSSSCG00065039138; ENSSSCG00055023185; ENSSSCG00070014693; ENSSSCG00000015311; ENSSSCG00005043421;
Gene name Lanosterol 14-alpha demethylase
Gene symbol CYP51A1
Organism Sus scrofa
NCBI taxa ID 9823
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. 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).
Sequence
MVLLGLLQAG GSVLGQAMEQ VTGVNLLSSL LLACAFTLIL VYLFRQAIGH LAPLPAGAKS 60
PPYIFSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM VGKTFTYLLG SDAAALLFNS 120
KNEDLNAEDV YSRLTTPVFG KGVAYDVPNP VFLEQKKMLK SGLNIAHFRQ HVSIIEKETK 180
EYFQSWGESG ERNLFEALSE LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFSHAAWL 240
LPGWLPLPSF RRRDRAHREI KNIFYKAIQK RRQSEEKIDD ILQTLLDSTY KDGRPLTDDE 300
VAGMLIGLLL AGQHTSSTTS AWMGFFLARD KTLQEKCYLE QKTVCGEDLP PLTYDQLKDL 360
NLLDRCIKET LRLRPPIMTM MRMAKTPQTV AGYTIPPGHQ VCVSPTVNQR LKDSWVERLD 420
FNPDRYLQDN PASGEKFAYV PFGAGRHRCI GENFAYVQIK TIWSTMLRLY EFDLIDGYFP 480
TVNYTTMIHT 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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCYP51A1505060Q4PJW3Bos taurusPredictionMore>>
1:1 orthologCYP51A1102177400A0A452E234Capra hircusPredictionMore>>
1:1 orthologCYP51A11595A0A0C4DFL7Homo sapiensPredictionMore>>
1:1 orthologCyp51a113121Q8K0C4CPOMus musculusPublicationMore>>
1:1 orthologCYP51A1403334O46420Sus scrofaPredictionMore>>
1:1 orthologCyp51a125427Q64654Rattus norvegicusPredictionMore>>
1:1 orthologcyp51414331Q1JPY5Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
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:0016126 sterol biosynthetic process
GO:0016125 sterol metabolic process

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0152 Cholesterol biosynthesis
KW-0153 Cholesterol metabolism
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

Interpro

InterPro ID InterPro Term
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf

PROSITE

PROSITE ID PROSITE Term
PS00086 CYTOCHROME_P450

Pfam

Pfam ID Pfam Term
PF00067 p450