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

Gene ID: 1581, updated on 13-Jan-2015
Official Symbol
CYP7A1provided by HGNC
Official Full Name
cytochrome P450, family 7, subfamily A, polypeptide 1provided by HGNC
Primary source
HGNC:HGNC:2651
See related
Ensembl:ENSG00000167910; HPRD:00324; MIM:118455; Vega:OTTHUMG00000164301
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]
Orthologs
See CYP7A1 in MapViewer
Location:
8q11-q12
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (58490178..58500161, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (59402737..59412720, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929528 Neighboring gene protein tyrosine phosphatase, non-receptor type 11 pseudogene Neighboring gene UBX domain protein 2B Neighboring gene syndecan binding protein (syntenin) Neighboring gene ribosomal protein S26 pseudogene 7 Neighboring gene neutral sphingomyelinase (N-SMase) activation associated factor

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Markers

Clone Names

  • MGC126826, MGC138389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol 7-alpha-monooxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
bile acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
bile acid metabolic process TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucose stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of bile acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
cholesterol 7-alpha-monooxygenase
Names
cholesterol 7-alpha-monooxygenase
cytochrome P450 7A1
cholesterol 7-alpha-hydroxylase
cytochrome P450, subfamily VIIA polypeptide 1
NP_000771.2

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 

    Range
    5002..14985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000780.3NP_000771.2  cholesterol 7-alpha-monooxygenase

    See proteins identical to NP_000771.2

    Status: REVIEWED

    Source sequence(s)
    AC009927, BC101777
    Consensus CDS
    CCDS6171.1
    UniProtKB/Swiss-Prot
    P22680
    Related
    ENSP00000301645, OTTHUMP00000226411, ENST00000301645, OTTHUMT00000378190
    Conserved Domains (1) summary
    pfam00067
    Location:32497
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    58490178..58500161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    59454626..59464609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    54889962..54899885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)