CYP24A1 Gene
protein-coding GIFtS: 65
GCID: GC20M052769
|
|
cytochrome P450, family 24, subfamily A, polypeptide 1(Previous names: cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)...)
(Previous symbol: CYP24)
| |
Aliases
for CYP24A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome P450, Family 24, Subfamily A, Polypeptide 11 2 | | 24-OHase2 3 | | CYP241 2 3 5 | | 1,25-@Dihydroxyvitamin D3 24-Hydroxylase2 | | CP241 2 | | 1,25-Dihydroxyvitamin D(3) 24-Hydroxylase, Mitochondrial2 | | P450-CC241 2 | | HCAI2 | | Cytochrome P450, Subfamily XXIV (Vitamin D 24-Hydroxylase)1 2 | | Exo-Mitochondrial Protein2 | | Cytochrome P450 24A12 3 | | Vitamin D 24-Hydroxylase2 | | Cytochrome P450-CC242 3 | | EC 1.14.13.1263 | | Vitamin D(3) 24-Hydroxylase2 3 | | |
Export aliases for CYP24A1 gene to outside databasesPrevious GC identifers: GC20M052458 GC20M053408 GC20M053455 GC20M052203 GC20M049516 |
Summaries
for CYP24A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CYP24A1:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins aremonooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids andother lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologicallyactive form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzymeplays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variantsencoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973Function: 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 ofhydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product
Gene Wiki entry for CYP24A1
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011362.10
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for CYP24A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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-q13.3CYP24A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for CYP24A1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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)
Subcellular location: Mitochondrion
Secondary accessions: Q15807 Q32ML3Alternative splicing: 2 isoforms: Q07973-1 Q07973-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CYP24A1: NX_Q07973
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q07973
CYP24A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000773.2 NP_001122387.1
ENSEMBL proteins: ENSP00000216862 ENSP00000379285 ENSP00000379284 Reactome Protein details: Q07973
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): 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
CYP24A1 Antibody Products:
Assay Products for CYP24A1: |
Protein
Domains /
Families
for CYP24A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CYP24A1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q07973ProtoNet protein and cluster: Q07973 1 Blocks protein family: IPB002949 CC24 mitochondrial P450 signature
UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973Similarity: Belongs to the cytochrome P450 family |
Function
for CYP24A1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CP24A_HUMAN, Q07973Function: 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 ofhydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end productCatalytic activity: Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)OCatalytic activity: Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)OEnzyme Number (IUBMB): EC 1.14.13.1261
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP24A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP24A1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): CYP24A1 (NM_000782) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP24A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP24A1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
CYP24A1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CYP24A1:
Animal Models:
Mouse knock-out Cyp24a1tm1Star for CYP24A1
6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Cyp24a1):
CYP24A1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CYP24A1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Vitamin D2 (ergocalciferol) metabolism | | | 2 | Cytochrome P450 - arranged by substrate type | | | 3 | Vitamin D (calciferol) metabolism | | | 4 | Transcription_Role of VDR in regulation of genes involved in osteoporosis | | | 5 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for CYP24A1
2  GeneGo (Thomson Reuters) Pathways for CYP24A1
4  BioSystems Pathways for CYP24A1
5/9 
Reactome Pathways for CYP24A1 (see all 9)
CYP24A1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP24A1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/6 Interacting proteins for CYP24A1 (Q079732, 3 ENSP000002168624) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
CYP24A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CYP24A1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CYP24A1 for compounds About GeneDecksing
 Browse Tocris compounds for CYP24A1
9 HMDB Compounds for CYP24A1 About this table
6 DrugBank Compounds for CYP24A1 About this table
10/29 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about CYP24A1 / CP24A
|
Transcripts
for CYP24A1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0007826 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000216862(uc002xwu.1 uc002xwv.2 uc002xww.2) ENST00000395955
ENST00000460643 ENST00000395954 ENST00000487593 ENST00000472970
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP24A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP24A1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CYP24A1 (NM_000782) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP24A1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP24A1 |
Additional cDNA 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 24/29 AceView cDNA sequences (see all 29): BM928702 AW205073 AA877213 BU662901 AW194692 N29030 BF356900 BG401173 BX109503 AW206049 NM_000782 L13286 AI400154 AW237530 N20655 CD013988 S67623 BF800401 N21576 AI928330 N30976 BI491491 H82378 AW022233
GeneLoc Exon Structure
5/6 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
|
Expression
for CYP24A1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CYP24A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATACTTAT
About this image
See CYP24A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP24A1
SOURCE GeneReport for Unigene cluster: Hs.89663
SABiosciences Expression via Pathway-Focused PCR Array including CYP24A1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP24A1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP24A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP24A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP24A1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP24A1 |
Orthologs
for CYP24A1 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CYP24A1 gene from 5/18 species (see all 18) About this table
ENSEMBL Gene Tree for CYP24A1 (if available)
TreeFam Gene Tree for CYP24A1 (if available) |
Paralogs
for CYP24A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CYP24A1 gene
- CYP11A12 CYP27A12 CYP11B12 CYP11B22 CYP27C12 CYP27B12
7 SIMAP similar genes for CYP24A1 using alignment to 1 protein entry: CP24A_HUMAN:CYP24 CYP27C1 CYP27A1 CYP11B2 CYP11B1 CYP27B1
CYP11A1
CYP24A1 for paralogs About GeneDecksing
|
Genomic Variants
for CYP24A1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
|
|
|
