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

    Gene ID: 1595, updated on 9-Dec-2024

    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; 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

    Genomic context

    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

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 negative regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in 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)

    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)