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

Gene ID: 1593, updated on 4-May-2020

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
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

Genomic context

See CYP27A1 in Genome Data Viewer
Location:
2q35
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (218781733..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 serine/threonine kinase 36 Neighboring gene tubulin tyrosine ligase like 4 Neighboring gene uncharacterized LOC107985986 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 3 Neighboring gene microRNA 9500

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholestanetriol 26-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol 26-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol 26-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
steroid hydroxylase activity TAS
Traceable Author Statement
more info
 
vitamin D3 25-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin D3 25-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
calcitriol biosynthetic process from calciol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcitriol biosynthetic process from calciol IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol catabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
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
XP_016858977.1

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_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
    Q02318
    Related
    ENSP00000258415.4, ENST00000258415.9
    Conserved Domains (1) summary
    pfam00067
    Location:61526
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    218781733..218815293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003488.2XP_016858977.1  sterol 26-hydroxylase, mitochondrial isoform X1

    Related
    ENST00000494263.5
    Conserved Domains (1) summary
    pfam00067
    Location:10386
    p450; Cytochrome P450
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