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CYP24A1 Gene

protein-coding GIFtS: 68
GCID: GC20M052769

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase))
(Previous symbol: CYP24)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Cytochrome P450, Family 24, Subfamily A, Polypeptide 1¹ ²		1,25-@Dihydroxyvitamin D3 24-Hydroxylase²
CYP24¹ ² ³ ⁵		1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial²
Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)¹ ²		CP24²
Cytochrome P450 24A1² ³		P450-CC24²
Cytochrome P450-CC24² ³		Exo-Mitochondrial Protein²
Vitamin D(3) 24-Hydroxylase² ³		Vitamin D 24-Hydroxylase²
24-OHase² ³		EC 1.14.13.126³
HCAI² ⁵

External Ids:	HGNC: 2602¹	Entrez Gene: 1591²	Ensembl: ENSG00000019186⁷	OMIM: 126065⁵	UniProtKB: Q07973³

Export aliases for CYP24A1 gene to outside databases

Previous GC identifers: GC20M052458 GC20M053408 GC20M053455 GC20M052203 GC20M049516

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP24A1 Gene:

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)

GeneCards Summary for CYP24A1 Gene:

CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP24A1 include hypercalcemia, infantile, and williams syndrome. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of

calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up

to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity

leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product

Gene Wiki entry for CYP24A1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000020.11 NT_011362.11 NC_018931.2

Regulatory elements:

Regulatory transcription factor binding sites in the CYP24A1 gene promoter:
AML1a AP-1 ATF-2 FOXD3 YY1 C/EBPalpha CREB AREB6 deltaCREB c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP24A1 promoter sequence

Search Chromatin IP Primers for CYP24A1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP24A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13 Ensembl cytogenetic band: 20q13.2 HGNC cytogenetic band: 20q13.2-q13.3

CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP24A1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M052769: view genomic region (about GC identifiers)

Start:	52,769,988 bp from pter	End:	52,790,516 bp from pter
Size:	20,529 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973 (See protein sequence)

Recommended Name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial precursor

Size: 514 amino acids; 58875 Da

Cofactor: Heme group (By similarity)

Secondary accessions: Q15807 Q32ML3 Q5I2W7

Alternative splicing: 3 isoforms: Q07973-1 Q07973-2 Q07973-3 (Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites)

Explore the universe of human proteins at neXtProt for CYP24A1: NX_Q07973

Explore proteomics data for CYP24A1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See CYP24A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000773.2 NP_001122387.1

ENSEMBL proteins:

ENSP00000216862 ENSP00000379285 ENSP00000379284

Reactome Protein details: Q07973

CYP24A1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

CYP: Cytochrome P450s

IUPHAR Guide to PHARMACOLOGY protein family classification: CYP24A1

CYP24, CYP26 and CYP27 families

3 InterPro protein domains:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry Q07973

ProtoNet protein and cluster: Q07973

1 Blocks protein domain: IPB002949 CC24 mitochondrial P450 signature

UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Similarity: Belongs to the cytochrome P450 family

CYP24A1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: CP24A_HUMAN, Q07973

Function: Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of

calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up

to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity

leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product

Catalytic activity: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O

Catalytic activity: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O

Enzyme Number (IUBMB): EC 1.14.13.126¹

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0008403	25-hydroxycholecalciferol-24-hydroxylase activity	IEA	--
GO:0016491	oxidoreductase activity	NAS	7632726
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	--	--
GO:0020037	heme binding	TAS	8506296

CYP24A1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CYP24A1:

Cell cycle / mitosis defect

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp24a1):

growth/size/body	homeostasis/metabolism	mortality/aging	renal/urinary system	reproductive system
skeleton

CYP24A1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Cyp24a1^tm1Star for CYP24A1

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miRNA Products:		miRTarBase miRNAs that target CYP24A1: hsa-mir-125b-5p (MIRT004408), hsa-mir-26b-5p (MIRT029534), hsa-mir-215-5p (MIRT024646), hsa-mir-192-5p (MIRT026473)

		Block miRNA regulation of human, mouse, rat CYP24A1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate CYP24A1 (see all 16):
		hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144

		SwitchGear 3'UTR luciferase reporter plasmid: CYP24A1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

CP24A_HUMAN, Q07973: Mitochondrion

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
nucleus	2

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	TAS	--

CYP24A1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CYP24A1 About (see all 9)

See pathways by source

SuperPath

Contained pathways About

Cytochrome P450 - arranged by substrate type

Cytochrome P450 - arranged by substrate type	0.75	Vitamins	0.00
Phase 1 - Functionalization of compounds	0.75	Vitamin D2 ergocalciferol metabolism	0.00
cytochrome P450	0.74

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Biological oxidations

Biological oxidations

0.56

metapathway biotransformation

0.42

Metabolism of steroid hormones and vitamin D

Metabolism of steroid hormones and vitamin D

Vitamin D (calciferol) metabolism

0.00

superpathway of cholesterol biosynthesis

Steroid biosynthesis

0.57

Pathways by source See SuperPaths
Show all pathways

2 GeneGo (Thomson Reuters) Pathways for CYP24A1

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Vitamin D2 (ergocalciferol) metabolism

4 BioSystems Pathways for CYP24A1

	Vitamin D synthesis
	cytochrome P450
	Nuclear receptors in lipid metabolism and toxicity
	metapathway biotransformation

2 Reactome Pathways for CYP24A1

	Vitamins
	Vitamin D (calciferol) metabolism

3 Kegg Pathways (Kegg details for CYP24A1):

	Steroid biosynthesis
	Metabolic pathways
	MicroRNAs in cancer

CYP24A1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including CYP24A1:

Drug Metabolism: Phase I Enzymes in human mouse rat

Interactions:

GeneGlobe Interaction Network for CYP24A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

Selected Interacting proteins for CYP24A1 (Q07973^{2, 3} ENSP00000216862⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CITED1	Q99966³, ENSP00000388548⁴	I2D: score=1 STRING: ENSP00000388548
TP53	P04637³, ENSP00000269305⁴	I2D: score=1 STRING: ENSP00000269305
VDR	P11473³, ENSP00000229022⁴	I2D: score=1 STRING: ENSP00000229022
TARBP2	Q15633³	I2D: score=2
CCT2	ENSP00000299300⁴	STRING: ENSP00000299300

About this table

Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001649	osteoblast differentiation	IEP	17023519
GO:0006766	vitamin metabolic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008202	steroid metabolic process	TAS	--
GO:0033280	response to vitamin D	IDA	16720713

CYP24A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CYP24A1 (CP24A)

9 HMDB Compounds for CYP24A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcidiol	25-Hydroxyvitamin D3 (see all 11)	19356-17-3	--
Calcitriol	(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol (see all 19)	32222-06-3	--
Calcium	Ca (see all 2)	7440-70-2	--
Ercalcitriol	1,25-Dihydroxycalciferol (see all 7)	60133-18-8	--
Ergocalciferol	(+)-Vitamin D2 (see all 72)	50-14-6	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Vitamin D3	(+)-Vitamin D3 (see all 32)	67-97-0	--

6 DrugBank Compounds for CYP24A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ergocalciferol	Synthetic Vitamin D (see all 2)	50-14-6	enzyme	substrate	15574355 15764712 16816472 11686044 16516540
Calcitriol	1,25-(OH)₂D3 (see all 2)	32222-06-3	enzyme	substrate inducer	20619365 19934256
Calcidiol	Calcifediol (see all 4)	19356-17-3	enzyme	substrate	19934256
Calcipotriol	--	112965-21-6	enzyme	substrate	16886668
Corticotropin	ACTH (see all 5)	9002-60-2	enzyme	inducer	19920212
Paricalcitol	--	131918-61-1	enzyme	substrate	15733015

Selected Novoseek inferred chemical compound relationships for CYP24A1 gene (see all 29) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcitroic acid	91.3	5	11686044 (1), 15574355 (1), 17646648 (1), 16816472 (1) (see all 5)
vitamin d	90.9	152	11179754 (4), 19237542 (3), 14760115 (3), 14648702 (2) (see all 81)
calcitriol	90.9	96	17368180 (6), 16708384 (4), 12027461 (4), 12914530 (3) (see all 40)
1,25 dihydroxy vitamin d3	90.6	38	15225756 (3), 16457885 (2), 19922790 (2), 15836435 (2) (see all 24)
25-hydroxyvitamin d	89.7	42	11686044 (2), 16600026 (2), 11012668 (2), 17395559 (2) (see all 27)
1,24,25-trihydroxyvitamin d3	88.2	3	12504896 (1), 9165006 (1)
bm 15766	82.5	4	16598763 (2), 16824767 (2)
24,25-dihydroxyvitamin d3	82.3	3	12504896 (1), 9165006 (1)
paricalcitol	69.8	1	16371233 (1)
7-dehydrocholesterol	61.5	3	16598763 (1), 16824767 (1)

CYP24A1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CYP24A1 gene (2 alternative transcripts):

NM_000782.4 NM_001128915.1

Unigene Cluster for CYP24A1:

Cytochrome P450, family 24, subfamily A, polypeptide 1

Hs.89663 [show with all ESTs]

Unigene Representative Sequence: NM_000782

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216862(uc002xwu.1 uc002xwv.2 uc002xww.2) ENST00000395955

ENST00000460643 ENST00000395954 ENST00000487593 ENST00000472970

miRNA Products:		Block miRNA regulation of human, mouse, rat CYP24A1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate CYP24A1 (see all 16):
		hsa-miR-3671 hsa-miR-30c hsa-miR-125a-5p hsa-miR-571 hsa-miR-30d hsa-miR-3144-3p hsa-miR-374a* hsa-miR-144

		SwitchGear 3'UTR luciferase reporter plasmid: CYP24A1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): CYP24A1 (NM_000782)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP24A1

Primer Products:		OriGene qPCR primer pairs and template standards for CYP24A1 OriGene qSTAR qPCR primer pairs in human, mouse for CYP24A1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CYP24A1
		QuantiTect SYBR Green Assays in human, mouse, rat CYP24A1
		QuantiFast Probe-based Assays in human, mouse, rat CYP24A1

Additional mRNA sequence:

AY858838.1 BC109083.1 BC109084.1 L13286.1 S67623.1

6 DOTS entries:

DT.99972261 DT.91986788 DT.75108883 DT.311476 DT.75100645 DT.91696137

Selected AceView cDNA sequences (see all 29):

BM928702 AA877213 AW205073 BG401173 NM_000782 BU662901 N29030 AI400154

BF800401 CD013988 S67623 BX109503 AW237530 AW194692 BF356900 N20655

L13286 AW206049 AI928330 BI491491 N21576 N30976 AW022349 AW022233

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYP24A1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12a	·	12b	·	12c	·	12d
SP1:									-		-														-								-				-
SP2:									-		-														-						-		-				-
SP3:																									-								-				-
SP4:
SP5:

ECgene alternative splicing isoforms for CYP24A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CYP24A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CAATACTTAT

About this image

CYP24A1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Eye (Sensory Organs)
Retina

CYP24A1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CYP24A1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.89663

Pathway & Disease-focused RT² Profiler PCR Array including CYP24A1:

Drug Metabolism: Phase I Enzymes in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for CYP24A1 OriGene qSTAR qPCR primer pairs in human, mouse for CYP24A1
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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for CYP24A1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cyp24a1^{1 , 5}	cytochrome P450, family 24, subfamily a, polypeptide more^{1, 5}	81.06(n)¹ 82.88(a)¹		2 (91.91 cM)⁵ 13081¹ NM_009996.3¹ NP_034126.1¹ 170482708⁵
chicken (Gallus gallus)	Aves	CYP24A1¹	cytochrome P450, family 24, subfamily A, polypeptide more	70.84(n) 71.87(a)		395827 NM_204979.1 NP_990310.1
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	77(a) 69(a)	1 ↔ many 1 ↔ many	AAWZ02036255(2048-16669) GL343716.1(170008-188769)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC100496967¹	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like	58.75(n) 54.68(a)		100496967 XM_002941250.2 XP_002941296.2
zebrafish (Danio rerio)	Actinopterygii	cyp24a1¹	cytochrome P450, family 24, subfamily A, polypeptide more	66.59(n) 70.33(a)		100004700 NM_001089458.1 NP_001082927.1
fruit fly (Drosophila melanogaster)	Insecta	Cyp12b2¹	Cyp12b2	43.46(n) 28.38(a)		37163 NM_137526.3 NP_611370.2
worm (Caenorhabditis elegans)	Secernentea	cyp-44A1¹	cyp-44A1	42.25(n) 30.84(a)		173936 NM_062651.3 NP_495052.1

ENSEMBL Gene Tree for CYP24A1 (if available)
TreeFam Gene Tree for CYP24A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP24A1 gene

CYP19A1² CYP11B1² CYP46A1² CYP11B2² CYP27B1² CYP11A1² CYP27A1² CYP27C1²

5 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry: CP24A_HUMAN:

CYP27C1 CYP27A1 CYP11B2 CYP11B1 CYP27B1

CYP24A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6068812^1,2,,4	C,F,H	Hypercalcemia infantile (HCAI)⁴ --	52744604(+)	`TGGGTA/GAAGCA`	4	S L	mis¹		13		NS EA NA MN EU	6785
rs114368325^1,2,,4	C,F	Hypercalcemia infantile (HCAI)⁴ --	52744644(+)	`AGTCCG/AAGTTG`	4	/R /W	mis¹		2		NA	4724
VAR_066409⁴		Hypercalcemia infantile (HCAI)⁴	--	see VAR_066409	2	R Q	mis⁴		0	--	--	--	--
VAR_066410⁴		Hypercalcemia infantile (HCAI)⁴	--	see VAR_066410	2	E K	mis⁴		0	--	--	--	--
rs10623012^1,2	C	--	49516610(+)	`AAGAC-/ATGTGAA`	2	--	ut3¹		6		EU EA NA MN CSA	432
rs11086451^1,2	C	--	49519007(+)	`TGTTA-/ATTTAA`	2	--	int¹		0	--	--	--	--
rs56109195^1,2	C,F	--	49531771(+)	`CTTCTT/CTATTT`	2	--	int¹		3		WA NA EA	358
rs6127121^1,2	C	--	49531773(+)	`TCTTTC/ATTTCT`	2	--	int¹		6		WA CSA NA EA	362
rs180800820^1,2		--	49531816(+)	`CCTTCC/GCTCCT`	2	--	int¹		0	--	--	--	--
rs11906937^1,2	C,H	--	49531905(+)	`cttccC/Ttccct`	2	--	int¹ trp³		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP24A1 (52769988 - 52790516 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for CYP24A1: About this table

Variant ID	Type	Subtype	PubMed ID
esv28399	CNV	Loss	19812545
nsv912946	CNV	Loss	21882294
nsv912945	CNV	Loss	21882294
nsv834010	CNV	Loss	17160897
esv259753	OTHER	Complex	20981092

Human Gene Mutation Database (HGMD): CYP24A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 126065
OMIM disorders: 143880
UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973

Hypercalcemia infantile (HCAI) [MIM:143880]: A disorder characterized by abnormally high level of calcium

in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Note=The disease is caused by

mutations affecting the gene represented in this entry

Selected diseases for CYP24A1 (see all 52):
About MalaCards

hypercalcemia, infantile williams syndrome hypercalcemia osteomalacia

rickets nephrocalcinosis gigantism renal clear cell carcinoma

rabies osteoporosis osteosarcoma lung cancer susceptibility

esophageal cancer basal cell carcinoma lung adenocarcinoma thyroid cancer

congestive heart failure ovarian cancer esophagitis myeloid leukemia

1 disease from the University of Copenhagen DISEASES database for CYP24A1:

Rickets

CYP24A1 for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for CYP24A1 gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rickets	64	2	8266831 (1), 15544953 (1)
rickets hypophosphatemic	57.8	1	16753019 (1)
prostate cancer	40.2	15	12270218 (2), 12485911 (2), 17368180 (2), 15538745 (1) (see all 8)
osteomalacia	36.6	4	16691293 (3), 15630458 (1)
breast cancer	29.8	14	19667160 (2), 19570947 (2), 15225785 (1), 15863722 (1) (see all 8)
cancer	28.4	22	19570947 (3), 16680461 (2), 16180015 (1), 17507873 (1) (see all 13)
colon carcinoma	24.2	3	12027461 (2), 11467853 (1)
colon cancer	18.7	2	11467853 (2)
tumors	16.5	17	16180015 (4), 14585316 (1), 17875655 (1), 12899539 (1) (see all 14)
myeloid leukemia	14	2	10410379 (1), 16457885 (1)

Genetic Association Database (GAD): CYP24A1
Human Genome Epidemiology (HuGE) Navigator: CYP24A1 (31 documents)

Export disorders for CYP24A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP24A1 gene, integrated from 10 sources (see all 266):
(articles sorted by number of sources associating them with CYP24A1)

Utopia: connect your pdf to the dynamic
world of online information

Alternative splicing of vitamin D-24-hydroxylase: a novel mechanism for the regulation of extrarenal 1,25-dihydroxyvitamin D synthesis. (PubMed id 15788398)^{1, 2, 9} Ren S.... Hewison M. (J. Biol. Chem. 2005)
Metabolism of vitamin D3 by cytochromes P450. (PubMed id 15574355)^{2, 7, 9} Sakaki T.... Inouye K. (Front. Biosci. 2005)
Evidence for the activation of 1alpha-hydroxyvitamin D2 by 25-hydroxyvitamin D-24-hydroxylase: delineation of pathways involving 1alpha,24-dihydroxyvitamin D2 and 1alpha,25-dihydroxyvitamin D2. (PubMed id 16516540)^{1, 7, 9} Masuda S....Jones G. (Biochim. Biophys. Acta 2006)
Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. (PubMed id 17606874)^{1, 4, 9} Bailey R....Todd J.A. (Diabetes 2007)
Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PubMed id 16600026)^{1, 4, 9} Wjst M....AndrAc E. (Respir. Res. 2006)
Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D- deficient rickets. (PubMed id 8266831)^{1, 2, 9} Labuda M.... Glorieux F.H. (J. Bone Miner. Res. 1993)
Vitamin D pathway gene variants and prostate cancer risk. (PubMed id 19454612)^{1, 4, 9} Holt S.K....Stanford J.L. (amp 2009)
Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PubMed id 19255064)^{1, 4, 9} Ahn J....Hayes R.B. (Carcinogenesis 2009)
Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. (PubMed id 17244366)^{1, 4, 9} McCullough M.L....Calle E.E. (Breast Cancer Res. 2007)
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. (PubMed id 21675912)^{1, 2} Schlingmann K.P.... Konrad M. (N. Engl. J. Med. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1591	HGNC: 2602	AceView: CYP24A1	Ensembl:ENSG00000019186	euGenes: HUgn1591
ECgene: CYP24A1	Kegg: 1591	H-InvDB: CYP24A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP24A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP24A1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CYP24A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP24A1 gene:
Search GeneIP for patents involving CYP24A1

GeneCards and IP:
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CYP24A1 Gene

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

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CYP24A1 Gene

Cytochrome P450, Family 24, Subfamily A, Polypeptide 1

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