U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CYP51A1 cytochrome P450 family 51 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 1595, updated on 11-May-2025
Official Symbol
CYP51A1provided by HGNC
Official Full Name
cytochrome P450 family 51 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:2649
See related
Ensembl:ENSG00000001630 MIM:601637; AllianceGenome:HGNC:2649
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]
Expression
Broad expression in liver (RPKM 53.6), testis (RPKM 45.9) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table
See CYP51A1 in Genome Data Viewer
Location:
7q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92112153..92134803, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93353434..93376082, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91741467..91764117, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26256 Neighboring gene A-kinase anchoring protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18366 Neighboring gene Sharpr-MPRA regulatory region 2641 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368 Neighboring gene microRNA 1285-1 Neighboring gene KRIT1 ankyrin repeat containing

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in cholesterol biosynthetic process via 24,25-dihydrolanosterol IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of amyloid-beta clearance IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of amyloid-beta clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in small molecule biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
lanosterol 14-alpha demethylase
Names
CYPLI
cytochrome P450 51A1
cytochrome P450, 51 (lanosterol 14-alpha-demethylase)
cytochrome P450, family 51, subfamily A, polypeptide 1
cytochrome P450-14DM
cytochrome P45014DM
cytochrome P450LI
sterol 14-alpha demethylase
NP_000777.1
NP_001139624.1

NEW Try the new Transcript table

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

  1. NG_007968.1 RefSeqGene

    Range
    5050..27374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000786.4NP_000777.1  lanosterol 14-alpha demethylase isoform 1

    See identical proteins and their annotated locations for NP_000777.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC000120, U23942
    Consensus CDS
    CCDS5623.1
    UniProtKB/Swiss-Prot
    A0A0C4DFL7, A4D1F8, B2RAI4, B4DJ55, O00770, O00772, Q16784, Q16850, Q8N1A8, Q99868
    UniProtKB/TrEMBL
    A0A8I5KRT9
    Related
    ENSP00000003100.8, ENST00000003100.13
    Conserved Domains (1) summary
    cd11042
    Location:94505
    CYP51-like; cytochrome P450 family 51 and similar cytochrome P450s
  2. NM_001146152.2NP_001139624.1  lanosterol 14-alpha demethylase isoform 2

    See identical proteins and their annotated locations for NP_001139624.1

    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/TrEMBL
    B3KRC6
    Related
    ENSP00000406757.1, ENST00000450723.5
    Conserved Domains (1) summary
    cl12078
    Location:1378
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92112153..92134803 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93353434..93376082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)