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

Gene ID: 1581, updated on 4-Jan-2025

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
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Genomic context

See CYP7A1 in Genome Data Viewer
Location:
8q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (58490178..58500163, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (58911316..58921301, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (59402737..59412722, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1364 Neighboring gene long intergenic non-protein coding RNA 3133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59282662-59283206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59304090-59304590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59304591-59305091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59308925-59309426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59309427-59309926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59350272-59350772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59350773-59351273 Neighboring gene UBX domain protein 2B Neighboring gene PTPN11 pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:59404317-59405516 Neighboring gene CYP7A1 5' regulatory region Neighboring gene peptidylprolyl isomerase A pseudogene 85 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59465479-59466196 Neighboring gene syndecan binding protein

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

General gene information

Clone Names

  • MGC126826, MGC138389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 24-hydroxycholesterol 7alpha-hydroxylase activity  
enables cholesterol 7-alpha-monooxygenase activity  
enables cholesterol 7-alpha-monooxygenase activity PubMed 
enables cholesterol 7-alpha-monooxygenase activity  
enables cholesterol 7-alpha-monooxygenase activity  
enables heme binding  
enables iron ion binding  
Process Evidence Code Pubs
involved_in bile acid and bile salt transport  
involved_in bile acid biosynthetic process  
involved_in bile acid biosynthetic process PubMed 
involved_in bile acid biosynthetic process  
involved_in bile acid biosynthetic process  
involved_in bile acid biosynthetic process  
involved_in cellular response to cholesterol  
involved_in cellular response to glucose stimulus PubMed 
involved_in cholesterol catabolic process  
involved_in cholesterol catabolic process  
involved_in cholesterol homeostasis  
involved_in cholesterol homeostasis  
involved_in negative regulation of collagen biosynthetic process  
involved_in negative regulation of fatty acid biosynthetic process  
involved_in positive regulation of cholesterol biosynthetic process  
involved_in regulation of bile acid biosynthetic process PubMed 
involved_in regulation of bile acid biosynthetic process  
involved_in response to ethanol  
involved_in sterol metabolic process  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane  
is_active_in intracellular membrane-bounded organelle  
located_in intracellular membrane-bounded organelle  

General protein information

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

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_007969.1 RefSeqGene

    Range
    5000..14985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000780.4NP_000771.2  cytochrome P450 7A1

    See identical proteins and their annotated locations for NP_000771.2

    Status: REVIEWED

    Source sequence(s)
    AC009927, BC101777
    Consensus CDS
    CCDS6171.1
    UniProtKB/Swiss-Prot
    P22680, P78454, Q3MIL8, Q7KZ19
    Related
    ENSP00000301645.3, ENST00000301645.4
    Conserved Domains (1) summary
    pfam00067
    Location:32497
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    58490178..58500163 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    58911316..58921301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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