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

    Gene ID: 1581, updated on 8-Jul-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
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    Genomic context

    See CYP7A1 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 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 109.20210514

    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)
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