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

Gene ID: 1593, updated on 27-Sep-2014
Official Symbol
CYP27A1provided by HGNC
Official Full Name
cytochrome P450, family 27, subfamily A, polypeptide 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]
See CYP27A1 in Epigenomics, MapViewer
Location:
2q35
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (218781749..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 family, member 4 Neighboring gene protein kinase, AMP-activated, gamma 3 non-catalytic subunit Neighboring gene ribosomal protein L23a pseudogene 31

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
cholestanetriol 26-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
cholesterol 26-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity TAS
Traceable Author Statement
more info
PubMed 
vitamin D3 25-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
bile acid metabolic process TAS
Traceable Author Statement
more info
 
calcitriol biosynthetic process from calciol IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic 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
sterol 26-hydroxylase, mitochondrial
cytochrome P450 27
sterol 27-hydroxylase
cytochrome P-450C27/25
vitamin D(3) 25-hydroxylase
cholestanetriol 26-monooxygenase
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase
5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase
5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase
cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
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 

    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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    218781749..218815293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    211499575..211533141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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