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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Global spread characteristics of CTX-M-type extended-spectrum beta-lactamases: A genomic epidemiology analysis.
Title: Global spread characteristics of CTX-M-type extended-spectrum β-lactamases: A genomic epidemiology analysis.
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Title: Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
27-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor.
Title: 27-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor.
The Interaction Effect of 27-Hydroxycholesterol Metabolism Disorder and CYP27A1 Single Nucleotide Polymorphisms in Mild Cognitive Impairment: Evidence from a Case-Control Study.
Title: The Interaction Effect of 27-Hydroxycholesterol Metabolism Disorder and CYP27A1 Single Nucleotide Polymorphisms in Mild Cognitive Impairment: Evidence from a Case-Control Study.
TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.
Title: TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy.
Title: Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy.
CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1.
Title: CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1.
The tumor-repressing effect of CYP27A1 on renal cell carcinoma by 27-HC arising from cholesterol metabolism.
Title: The tumor-repressing effect of CYP27A1 on renal cell carcinoma by 27-HC arising from cholesterol metabolism.
CYP27A1-dependent anti-melanoma activity of limonoid natural products targets mitochondrial metabolism.
Title: CYP27A1-dependent anti-melanoma activity of limonoid natural products targets mitochondrial metabolism.
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Title: A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.

Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cholestanol storage disease MedGen: C0238052 OMIM: 213700 GeneReviews: Cerebrotendinous Xanthomatosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79678 (e-PCR)
- UniSTS:88399

RH69156 (e-PCR)
- UniSTS:74999

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

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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

EC 1.14.15.15

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.