Gene: Cyp51a1

Basic information

Tag Content
Uniprot ID Q8K0C4; Q8BSQ7; Q9JIP8; Q9JIY3;
Entrez ID 13121
Genbank protein ID AAF74562.1; BAC27231.1; BAC36548.1; EDL14627.1; AAF73986.1; BAC25900.1; AAH31813.1; BAC26134.1;
Genbank nucleotide ID NM_020010.2
Ensembl protein ID ENSMUSP00000001507
Ensembl nucleotide ID ENSMUSG00000001467
Gene name Lanosterol 14-alpha demethylase
Gene symbol Cyp51a1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 21705796
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
MVLLGLLQSG GWVLGQAMEQ VTGGNLLSTL LIACAFTLSL VYLFRLAVGH MVQLPAGAKS 60
PPHIYSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM VGKTFTYLLG SDAAALLFNS 120
KNEDLNAEEV YGRLTTPVFG KGVAYDVPNA IFLEQKKIIK SGLNIAHFKQ YVPIIEKEAK 180
EYFQSWGESG ERNVFEALSE LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFTHAAWL 240
LPAWLPLPSF RRRDRAHREI KNIFYKAIQK RRLSKEPAED ILQTLLDSTY KDGRPLTDEE 300
ISGMLIGLLL AGQHTSSTTS AWMGFFLAKD KPLQEKCYLE QKAVCGEDLP PLTYDQLKDL 360
NLLDRCIKET LRLRPPIMTM MRMAKTPQTV AGYTIPPGHQ VCVSPTVNQR LKDSWAERLD 420
FNPDRYLQDN PASGEKFAYV PFGAGRHRCV GENFAYVQIK TIWSTMLRLY EFDLINGYFP 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 structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005506 iron ion bindingIEA
GO:0008398 sterol 14-demethylase activityISS
GO:0008398 sterol 14-demethylase activityISO
GO:0008398 sterol 14-demethylase activityTAS
GO:0008398 sterol 14-demethylase activityIBA
GO:0016491 oxidoreductase activityIBA
GO:0020037 heme bindingISS
GO:0020037 heme bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006694 steroid biosynthetic processISS
GO:0006694 steroid biosynthetic processISO
GO:0006695 cholesterol biosynthetic processTAS
GO:0016125 sterol metabolic processIBA
GO:0016126 sterol biosynthetic processIBA
GO:0033488 cholesterol biosynthetic process via 24,25-dihydrolanosterolISO
GO:0033488 cholesterol biosynthetic process via 24,25-dihydrolanosterolIBA
GO:0042177 negative regulation of protein catabolic processIMP
GO:0050709 negative regulation of protein secretionIMP
GO:0055114 oxidation-reduction processIBA
GO:0070988 demethylationIEA
GO:1900222 negative regulation of amyloid-beta clearanceIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005783 endoplasmic reticulumISO
GO:0005783 endoplasmic reticulumIBA
GO:0005789 endoplasmic reticulum membraneIEA
GO:0005886 plasma membraneIBA
GO:0016021 integral component of membraneIEA
GO:0043231 intracellular membrane-bounded organelleISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-191273 Cholesterol biosynthesisIEA
R-MMU-211859 Biological oxidationsIEA
R-MMU-211897 Cytochrome P450 - arranged by substrate typeIEA
R-MMU-211945 Phase I - Functionalization of compoundsIEA
R-MMU-211976 Endogenous sterolsIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-8957322 Metabolism of steroidsIEA

Drugs and compounds information

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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