CYP7A1 cytochrome P450 family 7 subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP7A1provided by HGNC
Official Full Name: cytochrome P450 family 7 subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:2651
See related: Ensembl:ENSG00000167910 MIM:118455; AllianceGenome:HGNC:2651
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: CP7A; CYP7; CYPVII
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
Expression: Restricted expression toward liver (RPKM 9.3) See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (58490178..58500163, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (58911316..58921301, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (59402737..59412722, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Pharmacological modulation of cholesterol 7alpha-hydroxylase (CYP7A1) as a therapeutic strategy for hypercholesterolemia.
Title: Pharmacological modulation of cholesterol 7α-hydroxylase (CYP7A1) as a therapeutic strategy for hypercholesterolemia.
[Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies].
Title: [Cholesterol 7α-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies].
Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea.
Title: Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea.
The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.
Title: The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.
Association of cholesterol 7alpha-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.
Title: Association of cholesterol 7α-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.
Developmental regulation of the gut-liver (FGF19-CYP7A1) axis in neonates.
Title: Developmental regulation of the gut-liver (FGF19-CYP7A1) axis in neonates.
relationship between CYP7A1 polymorphisms, coronary artery disease & serum lipid markers
Title: The relationship between CYP7A1 polymorphisms, coronary artery disease & serum lipid markers.
Genetic variants in CYP7A1 which are associated with increased levels of LDL cholesterol, are associated with an increased risk of both myocardial infarction and gallstone disease.
Title: Genetic variants in CYP7A1 and risk of myocardial infarction and symptomatic gallstone disease.
Two interacting regulatory SNPs modulate CYP7A1 expression and are associated with risk of coronary artery disease and diabetes mellitus.
Title: Interactions Between Regulatory Variants in CYP7A1 (Cholesterol 7α-Hydroxylase) Promoter and Enhancer Regions Regulate CYP7A1 Expression.
SNPs rs6720173 (ABCG5), rs3808607 (CYP7A1), and rs760241 (DHCR7) may work in conjunction with each other to amplify individual genotyping impacts on serum cholesterol responses to dairy consumption.
Title: The combination of single nucleotide polymorphisms rs6720173 (ABCG5), rs3808607 (CYP7A1), and rs760241 (DHCR7) is associated with differing serum cholesterol responses to dairy consumption.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

GDB:213610 (e-PCR)
- UniSTS:156182

NoName (e-PCR)
- UniSTS:486939

RH17754 (e-PCR)
- UniSTS:1135

PMC357015P1 (e-PCR)
- UniSTS:273288

CYP7A1_433 (e-PCR)
- UniSTS:277154

SHGC-35322 (e-PCR)
- UniSTS:82400

PMC137182P1 (e-PCR)
- UniSTS:270820

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 24-hydroxycholesterol 7alpha-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables cholesterol 7-alpha-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol 7-alpha-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol 7-alpha-monooxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cholesterol 7-alpha-monooxygenase activity	TAS Traceable Author Statement more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	IEA Inferred from Electronic Annotation more info
involved_in bile acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in bile acid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cholesterol	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of bile acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bile acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in sterol metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cytochrome P450 7A1

Names: 24-hydroxycholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-monooxygenase; cholesterol 7alpha-hydroxylase; cytochrome P450, family 7, subfamily A, polypeptide 1; cytochrome P450, subfamily VIIA polypeptide 1

NP_000771.2

EC 1.14.14.23

EC 1.14.14.26

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.