CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: CYP51A1provided by HGNC
Official Full Name: cytochrome P450, family 51, subfamily A, polypeptide 1provided by HGNC
Primary source: HGNC:2649
See related: Ensembl:ENSG00000001630; HPRD:03381; MIM:601637; Vega:OTTHUMG00000131131
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LDM; CP51; CYP51; CYPL1; P450L1; P450-14DM
Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Help top of page

Genomic context

Location :: 7q21.2

Sequence :: Chromosome: 7; NC_000007.13 (91741463..91764059, complement)

See CYP51A1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Studies indicate that CPY51 structures from various eukaryotic organisms are strikingly similar.
Title: Structural basis for conservation in the CYP51 family.
The substantial conformational changes in the B' helix and F-G loop regions are induced upon ligand binding, consistent with the membrane nature of the protein and its substrate.
Title: Structural basis of human CYP51 inhibition by antifungal azoles.
the liver X receptor alpha directly silencing the expression of two key cholesterologenic enzymes (lanosterol 14alpha-demethylase (CYP51A1), and squalene synthase (farnesyl diphosphate farnesyl transferase 1)) via novel negative LXR DNA response elements
Title: Regulation of cholesterologenesis by the oxysterol receptor, LXRalpha.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Plays primary roles in determining strength of interactions with azoles
Title: Structural diversities of active site in clinical azole-bound forms between sterol 14alpha-demethylases (CYP51s) from human and Mycobacterium tuberculosis.
A cAMP-responsive element binding site is essential for sterol regulation of the human lanosterol 14alpha-demethylase gene.
Title: A cAMP-responsive element binding site is essential for sterol regulation of the human lanosterol 14alpha-demethylase gene (CYP51).

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	In Jurkat cells HIV-1 Nef upregulates the expression of the sterol 14-alpha demethylase CYP51 gene, which catalyzes the demethylation of lanosterol during cholesterol biosynthesis	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:107967	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
electron carrier activity	IEA Inferred from Electronic Annotation more info
heme binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
monooxygenase activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
sterol 14-demethylase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cholesterol biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: lanosterol 14-alpha demethylase

Names: lanosterol 14-alpha demethylase; CYPLI; cytochrome P450LI; cytochrome P45014DM; cytochrome P450 51A1; cytochrome P450-14DM; sterol 14-alpha demethylase; lanosterol 14-alpha-demethylase; cytochrome P450, 51 (lanosterol 14-alpha-demethylase)

NP_000777.1

EC 1.14.13.70

NP_001139624.1

EC 1.14.13.70

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007968.1 RefSeqGene

Range

4782..27378

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000786.3 → NP_000777.1 lanosterol 14-alpha demethylase isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC000120, DA349400, U23942

Consensus CDS

CCDS5623.1

UniProtKB/Swiss-Prot

Q16850

Related

ENSP00000003100, OTTHUMP00000161775, ENST00000003100, OTTHUMT00000253812

Conserved Domains (2) summary

pfam00067
Location:67 – 483
Blast Score: 500

p450; Cytochrome P450

cl12078
Location:66 – 506
Blast Score: 432

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]
NM_001146152.1 → NP_001139624.1 lanosterol 14-alpha demethylase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC000120, AK295932, DC376300

Consensus CDS

CCDS55123.1

UniProtKB/Swiss-Prot

Q16850

Related

ENSP00000406757, OTTHUMP00000208817, ENST00000450723, OTTHUMT00000342054

Conserved Domains (1) summary

cl12078
Location:3 – 401
Blast Score: 406

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

91741463..91764059, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

86348902..86371499, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

91070701..91093297, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC000120.1	AAB46356.1
genomic	CH236949.1	EAL24154.1
genomic	CH471091.2	EAW76858.1
		EAW76859.1
genomic	U51684.3	AAC50951.1
genomic	U51685.1	AAC50951.1
genomic	U51686.1	AAC50951.1
genomic	U51687.1	AAC50951.1
genomic	U51688.1	AAC50951.1
genomic	U51689.1	AAC50951.1
genomic	U51690.1	AAC50951.1
genomic	U51691.1	AAC50951.1
genomic	U51692.1	AAC50951.1
mRNA	AK295932.1	BAG58717.1
mRNA	AK314205.1	BAG36881.1
mRNA	BC018429.1	AAH18429.1
mRNA	BC032322.1	AAH32322.1
mRNA	D55653.1	BAA09512.1
mRNA	DA349400.1	None
mRNA	DC376300.1	None
mRNA	U23942.1	AAB39951.1
other-genetic	DQ891311.2	ABM82237.1
other-genetic	DQ894495.2	ABM85421.1