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

Gene ID: 1581, updated on 14-Apr-2014
Official Symbol
CYP7A1provided by HGNC
Official Full Name
cytochrome P450, family 7, subfamily A, polypeptide 1provided by HGNC
Primary source
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]
Location :
8q11-q12
Sequence :
Chromosome: 8; NC_000008.11 (58490178..58500161, complement)
See CYP7A1 in Epigenomics, MapViewer

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
  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Bile acid biosynthesis, cholesterol => cholate, organism-specific biosystem (from KEGG)
    Bile acid biosynthesis, cholesterol => cholate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
  • Bile acid biosynthesis, cholesterol => cholate, conserved biosystem (from KEGG)
    Bile acid biosynthesis, cholesterol => cholate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
    Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
  • Drug Induction of Bile Acid Pathway, organism-specific biosystem (from WikiPathways)
    Drug Induction of Bile Acid Pathway, organism-specific biosystem
    Drug Induction of Bile Acid Pathway
  • Endogenous sterols, organism-specific biosystem (from REACTOME)
    Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystem (from WikiPathways)
    Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPARA Activates Gene Expression, organism-specific biosystem (from REACTOME)
    PPARA Activates Gene Expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Primary bile acid biosynthesis, organism-specific biosystem (from KEGG)
    Primary bile acid biosynthesis, organism-specific biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Primary bile acid biosynthesis, conserved biosystem (from KEGG)
    Primary bile acid biosynthesis, conserved biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
    Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
    Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...
  • Synthesis of bile acids and bile salts via 27-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol, organism-specific biosystemIn the body, 27-hydroxycholesterol is synthesized in multiple tissues, exported to the liver, and converted there to bile acids and bile salts. This pathway is only a minor source of bile acids and b...
  • Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystemIn the liver, synthesis of bile acids and bile salts is initiated with the conversion of cholesterol to 7alpha-hydroxycholesterol and of 7alpha-hydroxycholesterol to 4-cholesten-7alpha-ol-3-one. The ...
  • bile acid biosynthesis, neutral pathway, organism-specific biosystem (from BIOCYC)
    bile acid biosynthesis, neutral pathway, organism-specific biosystemGeneral Background The biosynthesis of bile acids is a major route of : CHOLESTEROL catabolism. It converts the hydrophobic, insoluble : CHOLESTEROL molecule into soluble bile acids. Accumulation ...
  • bile acid biosynthesis, neutral pathway, conserved biosystem (from BIOCYC)
    bile acid biosynthesis, neutral pathway, conserved biosystemGeneral Background The biosynthesis of bile acids is a major route of |FRAME: CHOLESTEROL| catabolism. It converts the hydrophobic, insoluble |FRAME: CHOLESTEROL| molecule into soluble bile acids. ...
  • cytochrome P450, organism-specific biosystem (from WikiPathways)
    cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    metapathway biotransformation, organism-specific biosystem
    metapathway biotransformation

Markers

Homology

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
 
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
 
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 RefSeqGene

    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
    Blast Score: 783
    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 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000140.1 Alternate HuRef

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

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

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

Supplemental Content

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