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

Gene ID: 1593, updated on 19-Feb-2024

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
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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)

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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)