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

Gene ID: 1595, updated on 24-Nov-2020

Summary

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
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

Genomic context

See CYP51A1 in Genome Data Viewer
Location:
7q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (92112153..92134803, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91741463..91764059, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375392 Neighboring gene uncharacterized LOC101927473 Neighboring gene uncharacterized LOC112267986 Neighboring gene mitochondrial transcription termination factor 1 Neighboring gene A-kinase anchoring protein 9 Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene microRNA 1285-1 Neighboring gene KRIT1 ankyrin repeat containing

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol 14-demethylase activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol 14-demethylase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
demethylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of amyloid-beta clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

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

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

  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 precursor

    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
    Q16850
    UniProtKB/TrEMBL
    A0A0C4DFL7
    Related
    ENSP00000003100.8, ENST00000003100.13
    Conserved Domains (1) summary
    cl12078
    Location:67483
    p450; Cytochrome P450
  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/Swiss-Prot
    Q16850
    Related
    ENSP00000406757.1, ENST00000450723.5
    Conserved Domains (1) summary
    cl12078
    Location:1378
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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