Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 1581, updated on 15-Jun-2019

    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

    Genomic context

    See CYP7A1 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
      Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
    • 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/chenodeoxycholate, organism-specific biosystem (from KEGG)
      Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
    • Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate, conserved biosystem (from KEGG)
      Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate, 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...
    • Farnesoid X Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Farnesoid X Receptor Pathway, organism-specific biosystemThe farnesoid X receptor (FXR, a.k.a. NR1H4) is a nuclear receptor that responds to levels of bile acids present in the body and regulates many processes related to bile acids synthesis and transport
    • 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...
    • Liver X Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Liver X Receptor Pathway, organism-specific biosystemThe liver X receptor (LXR) is a nuclear receptor involved in the regulation of liver-specific processes, such as cholesterol, fatty acid and glucose homeostasis.
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • 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...
    • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
      Metapathway biotransformation, organism-specific biosystem
      Metapathway biotransformation
    • 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...
    • Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
      Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
    • PPAR Alpha Pathway, organism-specific biosystem (from WikiPathways)
      PPAR Alpha Pathway, organism-specific biosystemPPAR alpha (also known as NR1C1) is a nuclear receptor that is involved with transcriptional regulation of genes involved in beta-oxidation, metabolism, fatty acid transport, etc.
    • 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. ...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126826, MGC138389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol 7-alpha-monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholesterol 7-alpha-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cholesterol biosynthetic 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
     
    regulation of lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    sterol 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular membrane-bounded organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cholesterol 7-alpha-monooxygenase
    Names
    cholesterol 7-alpha-hydroxylase
    cytochrome P450 7A1
    cytochrome P450, family 7, subfamily A, polypeptide 1
    cytochrome P450, subfamily VIIA polypeptide 1
    NP_000771.2

    NCBI Reference Sequences (RefSeq)

    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_000780.4NP_000771.2  cholesterol 7-alpha-monooxygenase

      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 Annotation Release 109

    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