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    CYP39A1 cytochrome P450 family 39 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 51302, updated on 22-Apr-2017
    Official Symbol
    CYP39A1provided by HGNC
    Official Full Name
    cytochrome P450 family 39 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:17449
    See related
    Ensembl:ENSG00000146233 MIM:605994; Vega:OTTHUMG00000014785
    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
    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 protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Orthologs
    Location:
    6p12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (46549580..46652849, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46517317..46620567, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene regulator of calcineurin 2 Neighboring gene ribosomal protein L36 pseudogene 10 Neighboring gene uncharacterized LOC101926898 Neighboring gene uncharacterized LOC101926934 Neighboring gene solute carrier family 25 member 27 Neighboring gene tudor domain containing 6 Neighboring gene phospholipase A2 group VII

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
      Metapathway biotransformation, organism-specific biosystem
      Metapathway biotransformation
    • 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.
    • 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...
    • 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 24-hydroxycholesterol, organism-specific biosystem (from REACTOME)
      Synthesis of bile acids and bile salts via 24-hydroxycholesterol, organism-specific biosystemIn the body, 24-hydroxycholesterol is synthesized in the brain, exported to the liver, and converted there to bile acids and bile salts. This pathway is only a minor source of bile acids and bile sal...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxysterol 7-alpha-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxysterol 7-alpha-hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    steroid 7-alpha-hydroxylase activity 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 TAS
    Traceable Author Statement
    more info
     
    bile acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    digestion TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    24-hydroxycholesterol 7-alpha-hydroxylase
    Names
    cytochrome P450, family 39, subfamily A, polypeptide 1
    cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1
    NP_001265667.1
    NP_001265668.1
    NP_057677.2

    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_007962.1 RefSeqGene

      Range
      4957..108207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278738.1NP_001265667.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK292263, AK301604, AL035670, DC336695
      UniProtKB/Swiss-Prot
      Q9NYL5
      UniProtKB/TrEMBL
      B7Z786
      Conserved Domains (1) summary
      cl12078
      Location:35440
      p450; Cytochrome P450
    2. NM_001278739.1NP_001265668.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK292263, AK307986, AL035670, DC336695
      Consensus CDS
      CCDS75465.1
      UniProtKB/Swiss-Prot
      Q9NYL5
      UniProtKB/TrEMBL
      A0A087WTD2
      Related
      ENSP00000477769.1, ENST00000619708.4
      Conserved Domains (1) summary
      cl12078
      Location:111288
      p450; Cytochrome P450
    3. NM_016593.4NP_057677.2  24-hydroxycholesterol 7-alpha-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_057677.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK292263, AL035670, DC336695
      Consensus CDS
      CCDS4916.1
      UniProtKB/Swiss-Prot
      Q9NYL5
      Related
      ENSP00000275016.2, OTTHUMP00000016547, ENST00000275016.2, OTTHUMT00000040787
      Conserved Domains (1) summary
      cl12078
      Location:35460
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      46549580..46652849 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010925.1XP_016866414.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X7

    2. XM_017010924.1XP_016866413.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X4

    3. XM_011514658.1XP_011512960.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X6

      Conserved Domains (1) summary
      cl12078
      Location:35354
      p450; Cytochrome P450
    4. XM_017010923.1XP_016866412.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X3

    5. XM_017010922.1XP_016866411.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X2

    6. XM_017010921.1XP_016866410.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X1

    7. XM_005249171.3XP_005249228.1  24-hydroxycholesterol 7-alpha-hydroxylase isoform X5

      Conserved Domains (1) summary
      cl12078
      Location:35417
      p450; Cytochrome P450

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      46520541..46624016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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