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

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; AllianceGenome:HGNC:2602
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20q13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (54143538..54173986, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (55917843..55948320, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (52769985..52790525, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.
Title: MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Title: Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.
Title: Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.
Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1.
Title: Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1.
Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.
Title: Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.
USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.
Title: USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.
Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.
Title: Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.
3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.
Title: 3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.
Association of CYP24A1 with survival and drug resistance in clinical cancer patients: a meta-analysis.
Title: Association of CYP24A1 with survival and drug resistance in clinical cancer patients: a meta-analysis.
Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism with Lower Risk to COVID-19 Infection in Kazakhstan.
Title: Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism with Lower Risk to COVID-19 Infection in Kazakhstan.

Submit: New GeneRIF Correction See all GeneRIFs (219)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypercalcemia, infantile, 1 MedGen: C4310232 OMIM: 143880 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-N34457 (e-PCR)
- UniSTS:35942

WI-9227 (e-PCR)
- UniSTS:73851

G10652 (e-PCR)
- UniSTS:46311

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS Traceable Author Statement more info
enables 25-hydroxycholecalciferol-23-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables 25-hydroxycholecalciferol-24-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 25-hydroxycholecalciferol-24-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	TAS Traceable Author Statement more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables vitamin D 25-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin D 25-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in osteoblast differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to vitamin D	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin D	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin D catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin D catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin D catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in vitamin D metabolic process	TAS Traceable Author Statement more info
involved_in vitamin D receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in vitamin metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

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; lncBCAS1-4_1; vitamin D 24-hydroxylase; vitamin D(3) 24-hydroxylase

NP_000773.2

EC 1.14.15.16

NP_001122387.1

EC 1.14.15.16

NP_001411269.1

EC 1.14.15.16

NP_001411270.1

EC 1.14.15.16

NP_001411271.1

EC 1.14.15.16

NP_001411272.1

EC 1.14.15.16

XP_016883181.1

EC 1.14.15.16

XP_047295892.1

EC 1.14.15.16

XP_047295894.1

EC 1.14.15.16

XP_054179076.1

EC 1.14.15.16

XP_054179077.1

EC 1.14.15.16

XP_054179080.1

EC 1.14.15.16

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_008334.2 RefSeqGene

Range

5000..25540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000782.5 → NP_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, Q15807, Q32ML3, Q5I2W7

Related

ENSP00000216862.3, ENST00000216862.8

Conserved Domains (1) summary

pfam00067
Location:59 → 512

p450; Cytochrome P450
NM_001128915.2 → NP_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:59 → 414

p450; Cytochrome P450
NM_001424340.1 → NP_001411269.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AL138805

UniProtKB/Swiss-Prot

Q07973, Q15807, Q32ML3, Q5I2W7
NM_001424341.1 → NP_001411270.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AL138805

UniProtKB/Swiss-Prot

Q07973, Q15807, Q32ML3, Q5I2W7
NM_001424342.1 → NP_001411271.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL138805
NM_001424343.1 → NP_001411272.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL138805

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

54143538..54173986 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q07973, Q15807, Q32ML3, Q5I2W7

Conserved Domains (1) summary

pfam00067
Location:59 → 512

p450; Cytochrome P450
XM_047439938.1 → XP_047295894.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2
XM_047439936.1 → XP_047295892.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

55917843..55948320 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323101.1 → XP_054179076.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q07973, Q15807, Q32ML3, Q5I2W7
XM_054323105.1 → XP_054179080.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2
XM_054323102.1 → XP_054179077.1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2