Format

Send to:

Choose Destination

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

Gene ID: 1581, updated on 23-Nov-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CYP7A1 in Genome Data Viewer
Location:
8q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (58490178..58500163, complement)
105.20201022 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 uncharacterized LOC101929528 Neighboring gene protein tyrosine phosphatase non-receptor type 11 pseudogene Neighboring gene UBX domain protein 2B Neighboring gene CYP7A1 5' regulatory region Neighboring gene peptidylprolyl isomerase A pseudogene Neighboring gene uncharacterized LOC105375857

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?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC126826, MGC138389

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
PubMed 
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
 
enables steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 regulation of gene expression IEA
Inferred from Electronic Annotation
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle ISS
Inferred from Sequence or Structural Similarity
more info
 

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)

NEW Try the new Transcript table

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
    Related
    ENSP00000301645.3, ENST00000301645.4
    Conserved Domains (1) summary
    pfam00067
    Location:32497
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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