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    CYP27A1 cytochrome P450 family 27 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1593, updated on 23-Nov-2023

    Summary

    Official Symbol
    CYP27A1provided by HGNC
    Official Full Name
    cytochrome P450 family 27 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:2605
    See related
    Ensembl:ENSG00000135929 MIM:606530; AllianceGenome:HGNC:2605
    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
    CTX; CP27; CYP27
    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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 101.4), small intestine (RPKM 27.6) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CYP27A1 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218782147..218815293)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219268705..219301851)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219646870..219680016)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12324 Neighboring gene serine/threonine kinase 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219563769-219564269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17129 Neighboring gene uncharacterized LOC124907983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12326 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:219584289-219584586 Neighboring gene tubulin tyrosine ligase like 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:219609538-219610737 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:219611731-219612930 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:219687585-219688784 Neighboring gene microRNA 9500 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 3 Neighboring gene ribosomal protein L23a pseudogene 31

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-alpha,7-alpha,12-alpha-trihydroxycholestan-26-al 26-oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cholestanetetraol 26-dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cholestanetriol 26-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol 26-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol 26-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables steroid hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    enables vitamin D3 25-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables vitamin D3 25-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bile acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bile acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in calcitriol biosynthetic process from calciol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcitriol biosynthetic process from calciol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    sterol 26-hydroxylase, mitochondrial
    Names
    5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase
    5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase
    cholestanetriol 26-monooxygenase
    cytochrome P-450C27/25
    cytochrome P450 27
    cytochrome P450, family 27, subfamily A, polypeptide 1
    cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
    sterol 27-hydroxylase
    vitamin D(3) 25-hydroxylase
    NP_000775.1

    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_007959.1 RefSeqGene

      Range
      5399..38545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000784.4NP_000775.1  sterol 26-hydroxylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000775.1

      Status: REVIEWED

      Source sequence(s)
      BC051851, X59812
      Consensus CDS
      CCDS2423.1
      UniProtKB/Swiss-Prot
      A8K303, Q02318, Q6LDB4, Q86YQ6
      Related
      ENSP00000258415.4, ENST00000258415.9
      Conserved Domains (1) summary
      pfam00067
      Location:61526
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218782147..218815293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219268705..219301851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)