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    CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 [ Homo sapiens ]

    Gene ID: 9420, updated on 13-May-2012

    Summary

    Official Symbol
    CYP7B1provided by HGNC
    Official Full Name
    cytochrome P450, family 7, subfamily B, polypeptide 1provided by HGNC
    Primary source
    HGNC:2652
    See related
    Ensembl:ENSG00000172817; HPRD:04753; MIM:603711; Vega:OTTHUMG00000164387
    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
    CP7B; CBAS3; SPG5A
    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 of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    8q21.3
    Sequence :
    Chromosome: 8; NC_000008.10 (65508529..65711348, complement)
    See CYP7B1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC401463 Neighboring gene basic helix-loop-helix family, member e22 Neighboring gene uncharacterized LOC100505613 Neighboring gene ribosomal protein L31 pseudogene 41

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:114813 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • 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...
    • 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...
    • 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...
    • 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...
    • 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...
    • 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...
    • Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
      Tryptophan metabolism, organism-specific biosystem
      Tryptophan metabolism

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    25-hydroxycholesterol 7alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    electron carrier activity IEA
    Inferred from Electronic Annotation
    more info
     
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxysterol 7-alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    bile acid metabolic process TAS
    Traceable Author Statement
    more info
     
    cell death IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of intracellular estrogen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland epithelium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microsome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    25-hydroxycholesterol 7-alpha-hydroxylase
    Names
    25-hydroxycholesterol 7-alpha-hydroxylase
    cytochrome P450 7B1
    oxysterol 7alpha-hydroxylase
    oxysterol 7-alpha-hydroxylase
    cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1
    NP_004811.1

    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_008338.1 RefSeqGene

      Range
      5001..207820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004820.3NP_004811.1  25-hydroxycholesterol 7-alpha-hydroxylase

      Status: REVIEWED

      Source sequence(s)
      AC090136, AC104232, BC029155
      Consensus CDS
      CCDS6180.1
      UniProtKB/Swiss-Prot
      O75881
      UniProtKB/TrEMBL
      Q05C57
      Related
      ENSP00000310721, OTTHUMP00000226589, ENST00000310193, OTTHUMT00000378550
      Conserved Domains (1) summary
      cl12078
      Location:279479
      Blast Score: 228
      CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      65508529..65711348, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      60998772..61201422, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC090136.6 None
    genomic AC104232.5 (48577..136776) None
    genomic AC104939.7 (27767..140374) None
    genomic AF127089.1 None
    genomic AF176805.1 AAK11850.1
    genomic CH471068.1 EAW86877.1
    mRNA AF029403.1 AAC95426.1
    mRNA AF127090.1 AAD20021.1
    mRNA BC029155.1 AAH29155.1
    mRNA BC136574.1 AAI36575.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75881.2 GenPept UniProtKB/Swiss-Prot:O75881
    Q05C57 GenPept UniProtKB/TrEMBL:Q05C57

      Supplemental Content

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