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

    Gene ID: 1593, updated on 17-Sep-2016
    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 HPRD:05939; MIM:606530; Vega:OTTHUMG00000048238
    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]
    Orthologs
    Location:
    2q35
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (218781006..218815293)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219646472..219680016)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ring finger protein 25 Neighboring gene serine/threonine kinase 36 Neighboring gene tubulin tyrosine ligase like 4 Neighboring gene uncharacterized LOC107985986 Neighboring gene microRNA 9500 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding 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
     
    steroid hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    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

    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
      5001..38545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000784.3NP_000775.1  sterol 26-hydroxylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000775.1

      Status: REVIEWED

      Source sequence(s)
      AC009974, BC051851, X59812
      Consensus CDS
      CCDS2423.1
      UniProtKB/Swiss-Prot
      Q02318
      Related
      ENSP00000258415, OTTHUMP00000045925, ENST00000258415, OTTHUMT00000109734
      Conserved Domains (1) summary
      pfam00067
      Location:61526
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      218781006..218815293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003488.1XP_016858977.1  

      Conserved Domains (1) summary
      pfam00067
      Location:10386
      p450; Cytochrome P450

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      219653385..219686914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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