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

Gene ID: 1591, updated on 17-Jun-2018
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; Vega:OTTHUMG00000032773
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
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

  • 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?

Associated conditions

Description Tests
Idiopathic hypercalcemia of infancy
MedGen: C0268080 OMIM: 143880 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

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
 
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

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_000782.4NP_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)
    AW022349, BC109083, BI491491, CN311231, L13286
    Consensus CDS
    CCDS33491.1
    UniProtKB/Swiss-Prot
    Q07973
    Related
    ENSP00000216862.3, OTTHUMP00000031314, ENST00000216862.7, OTTHUMT00000079769
    Conserved Domains (1) summary
    pfam00067
    Location:59512
    p450; Cytochrome P450
  2. NM_001128915.1NP_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)
    AW022349, BC109083, BI491491, CN311231
    Consensus CDS
    CCDS46616.1
    UniProtKB/Swiss-Prot
    Q07973
    Related
    ENSP00000379285.3, OTTHUMP00000165939, ENST00000395955.7, OTTHUMT00000259198
    Conserved Domains (1) summary
    pfam00067
    Location:59414
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 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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