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    CYP24A1 cytochrome P450 family 24 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1591, updated on 15-Jun-2019

    Summary

    Official Symbol
    CYP24A1provided by HGNC
    Official Full Name
    cytochrome P450 family 24 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:2602
    See related
    Ensembl:ENSG00000019186 MIM:126065
    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
    CP24; HCAI; CYP24; HCINF1; P450-CC24
    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 mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in urinary bladder (RPKM 21.5), endometrium (RPKM 10.7) and 2 other tissues See more
    Orthologs

    Genomic context

    See CYP24A1 in Genome Data Viewer
    Location:
    20q13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (54145731..54174032, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (52769985..52790516, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SUMO1 pseudogene 1 Neighboring gene breast carcinoma amplified sequence 1 Neighboring gene microRNA 4756 Neighboring gene uncharacterized LOC105372675 Neighboring gene prefoldin subunit 4

    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

    Associated conditions

    Description Tests
    Idiopathic hypercalcemia of infancy
    MedGen: C4310232 OMIM: 143880 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126273, MGC126274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    25-hydroxycholecalciferol-24-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    heme binding TAS
    Traceable Author Statement
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    osteoblast differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to vitamin D IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vitamin D catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    vitamin D receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
    Names
    1,25-@dihydroxyvitamin D3 24-hydroxylase
    24-OHase
    cytochrome P450 24A1
    cytochrome P450, family 24, subfamily A, polypeptide 1
    cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)
    cytochrome P450-CC24
    exo-mitochondrial protein
    vitamin D 24-hydroxylase
    vitamin D(3) 24-hydroxylase
    NP_000773.2
    NP_001122387.1
    XP_005260361.1
    XP_016883180.1
    XP_016883181.1
    XP_016883182.1

    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_008334.1 RefSeqGene

      Range
      5001..25529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000782.5NP_000773.2  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000773.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL138805, AW022349, BC109083, BI491491, CN311231, L13286
      Consensus CDS
      CCDS33491.1
      UniProtKB/Swiss-Prot
      Q07973
      Related
      ENSP00000216862.3, ENST00000216862.8
      Conserved Domains (1) summary
      pfam00067
      Location:59512
      p450; Cytochrome P450
    2. NM_001128915.2NP_001122387.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001122387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a coding exon in the 3' region, but the reading frame is not changed, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AL138805, AW022349, BC109083, BI491491, CN311231
      Consensus CDS
      CCDS46616.1
      UniProtKB/Swiss-Prot
      Q07973
      Related
      ENSP00000379285.3, ENST00000395955.7
      Conserved Domains (1) summary
      pfam00067
      Location:59414
      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_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      54145731..54174032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027692.2XP_016883181.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q07973
      Conserved Domains (1) summary
      pfam00067
      Location:59512
      p450; Cytochrome P450
    2. XM_005260304.5XP_005260361.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005260361.1

      UniProtKB/Swiss-Prot
      Q07973
      Conserved Domains (1) summary
      pfam00067
      Location:59512
      p450; Cytochrome P450
    3. XM_017027693.2XP_016883182.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      Q07973
      Conserved Domains (1) summary
      pfam00067
      Location:59414
      p450; Cytochrome P450
    4. XM_017027691.2XP_016883180.1  1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q07973
      Conserved Domains (1) summary
      pfam00067
      Location:59512
      p450; Cytochrome P450
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