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Protein

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

Gene

CYP24A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D3) and calcitriol (1-alpha,25-dihydroxyvitamin D3). 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.1 Publication

Catalytic activityi

Calcitriol + 2 reduced adrenodoxin + 2 H+ + O2 = calcitetrol + 2 oxidized adrenodoxin + H2O.1 Publication
Calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 = secalciferol + 2 oxidized adrenodoxin + H2O.1 Publication

Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi462Iron (heme axial ligand)By similarity1

GO - Molecular functioni

  • 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity Source: UniProtKB
  • 25-hydroxycholecalciferol-24-hydroxylase activity Source: Ensembl
  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • oxidoreductase activity Source: UniProtKB

GO - Biological processi

  • osteoblast differentiation Source: BHF-UCL
  • oxidation-reduction process Source: UniProtKB
  • response to vitamin D Source: BHF-UCL
  • vitamin D catabolic process Source: BHF-UCL
  • vitamin D metabolic process Source: Reactome
  • vitamin D receptor signaling pathway Source: BHF-UCL
  • vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS00395-MONOMER.
ZFISH:HS00395-MONOMER.
BRENDAi1.14.13.159. 2681.
ReactomeiR-HSA-196791. Vitamin D (calciferol) metabolism.
R-HSA-211916. Vitamins.
SABIO-RKQ07973.

Chemistry databases

SwissLipidsiSLP:000001269.

Names & Taxonomyi

Protein namesi
Recommended name:
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (EC:1.14.15.161 Publication)
Short name:
24-OHase
Short name:
Vitamin D(3) 24-hydroxylase
Alternative name(s):
Cytochrome P450 24A1
Cytochrome P450-CC24
Gene namesi
Name:CYP24A1
Synonyms:CYP24
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:2602. CYP24A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Hypercalcemia, infantile, 1 (HCINF1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
See also OMIM:143880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066408143Missing in HCINF1; complete loss of function. 1 Publication1
Natural variantiVAR_066409159R → Q in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs387907322dbSNPEnsembl.1
Natural variantiVAR_066410322E → K in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs387907324dbSNPEnsembl.1
Natural variantiVAR_066411396R → W in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs114368325dbSNPEnsembl.1
Natural variantiVAR_048466409L → S in HCINF1; retains small but measurable levels of activity. 1 PublicationCorresponds to variant rs6068812dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1591.
MalaCardsiCYP24A1.
MIMi143880. phenotype.
OpenTargetsiENSG00000019186.
Orphaneti300547. Autosomal recessive infantile hypercalcemia.
PharmGKBiPA27097.

Chemistry databases

ChEMBLiCHEMBL4521.
DrugBankiDB00146. Calcidiol.
DB02300. Calcipotriol.
DB00136. Calcitriol.
DB01285. Corticotropin.
DB00153. Ergocalciferol.
DB00910. Paricalcitol.
GuidetoPHARMACOLOGYi1365.

Polymorphism and mutation databases

BioMutaiCYP24A1.
DMDMi19862747.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 35MitochondrionBy similarityAdd BLAST35
ChainiPRO_000000361536 – 5141,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrialAdd BLAST479

Proteomic databases

MaxQBiQ07973.
PaxDbiQ07973.
PeptideAtlasiQ07973.
PRIDEiQ07973.

PTM databases

iPTMnetiQ07973.
PhosphoSitePlusiQ07973.

Expressioni

Gene expression databases

BgeeiENSG00000019186.
CleanExiHS_CYP24A1.
GenevisibleiQ07973. HS.

Organism-specific databases

HPAiHPA022261.
HPA063771.

Interactioni

Protein-protein interaction databases

BioGridi107963. 5 interactors.
IntActiQ07973. 2 interactors.
MINTiMINT-6773699.
STRINGi9606.ENSP00000216862.

Chemistry databases

BindingDBiQ07973.

Structurei

3D structure databases

ProteinModelPortaliQ07973.
SMRiQ07973.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0159. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000276540.
HOVERGENiHBG099053.
InParanoidiQ07973.
KOiK07436.
OMAiDYREEGY.
OrthoDBiEOG091G0MI3.
PhylomeDBiQ07973.
TreeFamiTF105094.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q07973-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSPISKSRS LAAFLQQLRS PRQPPRLVTS TAYTSPQPRE VPVCPLTAGG
60 70 80 90 100
ETQNAAALPG PTSWPLLGSL LQILWKGGLK KQHDTLVEYH KKYGKIFRMK
110 120 130 140 150
LGSFESVHLG SPCLLEALYR TESAYPQRLE IKPWKAYRDY RKEGYGLLIL
160 170 180 190 200
EGEDWQRVRS AFQKKLMKPG EVMKLDNKIN EVLADFMGRI DELCDERGHV
210 220 230 240 250
EDLYSELNKW SFESICLVLY EKRFGLLQKN AGDEAVNFIM AIKTMMSTFG
260 270 280 290 300
RMMVTPVELH KSLNTKVWQD HTLAWDTIFK SVKACIDNRL EKYSQQPSAD
310 320 330 340 350
FLCDIYHQNR LSKKELYAAV TELQLAAVET TANSLMWILY NLSRNPQVQQ
360 370 380 390 400
KLLKEIQSVL PENQVPRAED LRNMPYLKAC LKESMRLTPS VPFTTRTLDK
410 420 430 440 450
ATVLGEYALP KGTVLMLNTQ VLGSSEDNFE DSSQFRPERW LQEKEKINPF
460 470 480 490 500
AHLPFGVGKR MCIGRRLAEL QLHLALCWIV RKYDIQATDN EPVEMLHSGT
510
LVPSRELPIA FCQR
Length:514
Mass (Da):58,875
Last modified:October 18, 2001 - v2
Checksum:i8862F63771981195
GO
Isoform 2 (identifier: Q07973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     413-478: Missing.

Note: No experimental confirmation available.
Show »
Length:448
Mass (Da):51,207
Checksum:i7A4DF62B195B6F9B
GO
Isoform 3 (identifier: Q07973-3) [UniParc]FASTAAdd to basket
Also known as: CYP24-SV

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MSSPISKS → MYSCFSHR
     9-150: Missing.

Note: Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.
Show »
Length:372
Mass (Da):43,051
Checksum:i943689E132C4FE3B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti68G → A in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti68G → A in AAB03776 (PubMed:8506296).Curated1
Sequence conflicti124 – 125AY → V in AAA62379 (PubMed:8506296).Curated2
Sequence conflicti270D → G in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti365V → R in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti368A → E in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti390S → G in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti511F → S in AAB29308 (PubMed:8266831).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066408143Missing in HCINF1; complete loss of function. 1 Publication1
Natural variantiVAR_048464157R → Q.Corresponds to variant rs35051736dbSNPEnsembl.1
Natural variantiVAR_066409159R → Q in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs387907322dbSNPEnsembl.1
Natural variantiVAR_066410322E → K in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs387907324dbSNPEnsembl.1
Natural variantiVAR_048465374M → T.Corresponds to variant rs6022990dbSNPEnsembl.1
Natural variantiVAR_066411396R → W in HCINF1; complete loss of function. 1 PublicationCorresponds to variant rs114368325dbSNPEnsembl.1
Natural variantiVAR_048466409L → S in HCINF1; retains small but measurable levels of activity. 1 PublicationCorresponds to variant rs6068812dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0533671 – 8MSSPISKS → MYSCFSHR in isoform 3. 1 Publication8
Alternative sequenceiVSP_0533689 – 150Missing in isoform 3. 1 PublicationAdd BLAST142
Alternative sequenceiVSP_043101413 – 478Missing in isoform 2. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13286 mRNA. Translation: AAA62379.1.
AY858838 mRNA. Translation: AAW50795.1.
AL138805 Genomic DNA. Translation: CAB91829.1.
AL138805 Genomic DNA. Translation: CAM27343.1.
BC109083 mRNA. Translation: AAI09084.1.
BC109084 mRNA. Translation: AAI09085.1.
U60669 Genomic DNA. Translation: AAB03776.1. Sequence problems.
S67623 mRNA. Translation: AAB29308.1.
CCDSiCCDS33491.1. [Q07973-1]
CCDS46616.1. [Q07973-2]
PIRiA47436.
I55488.
RefSeqiNP_000773.2. NM_000782.4. [Q07973-1]
NP_001122387.1. NM_001128915.1. [Q07973-2]
XP_005260361.1. XM_005260304.4. [Q07973-1]
XP_016883180.1. XM_017027691.1. [Q07973-1]
XP_016883181.1. XM_017027692.1. [Q07973-1]
XP_016883182.1. XM_017027693.1. [Q07973-2]
UniGeneiHs.89663.

Genome annotation databases

EnsembliENST00000216862; ENSP00000216862; ENSG00000019186. [Q07973-1]
ENST00000395954; ENSP00000379284; ENSG00000019186. [Q07973-3]
ENST00000395955; ENSP00000379285; ENSG00000019186. [Q07973-2]
GeneIDi1591.
KEGGihsa:1591.
UCSCiuc002xwu.2. human. [Q07973-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13286 mRNA. Translation: AAA62379.1.
AY858838 mRNA. Translation: AAW50795.1.
AL138805 Genomic DNA. Translation: CAB91829.1.
AL138805 Genomic DNA. Translation: CAM27343.1.
BC109083 mRNA. Translation: AAI09084.1.
BC109084 mRNA. Translation: AAI09085.1.
U60669 Genomic DNA. Translation: AAB03776.1. Sequence problems.
S67623 mRNA. Translation: AAB29308.1.
CCDSiCCDS33491.1. [Q07973-1]
CCDS46616.1. [Q07973-2]
PIRiA47436.
I55488.
RefSeqiNP_000773.2. NM_000782.4. [Q07973-1]
NP_001122387.1. NM_001128915.1. [Q07973-2]
XP_005260361.1. XM_005260304.4. [Q07973-1]
XP_016883180.1. XM_017027691.1. [Q07973-1]
XP_016883181.1. XM_017027692.1. [Q07973-1]
XP_016883182.1. XM_017027693.1. [Q07973-2]
UniGeneiHs.89663.

3D structure databases

ProteinModelPortaliQ07973.
SMRiQ07973.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107963. 5 interactors.
IntActiQ07973. 2 interactors.
MINTiMINT-6773699.
STRINGi9606.ENSP00000216862.

Chemistry databases

BindingDBiQ07973.
ChEMBLiCHEMBL4521.
DrugBankiDB00146. Calcidiol.
DB02300. Calcipotriol.
DB00136. Calcitriol.
DB01285. Corticotropin.
DB00153. Ergocalciferol.
DB00910. Paricalcitol.
GuidetoPHARMACOLOGYi1365.
SwissLipidsiSLP:000001269.

PTM databases

iPTMnetiQ07973.
PhosphoSitePlusiQ07973.

Polymorphism and mutation databases

BioMutaiCYP24A1.
DMDMi19862747.

Proteomic databases

MaxQBiQ07973.
PaxDbiQ07973.
PeptideAtlasiQ07973.
PRIDEiQ07973.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216862; ENSP00000216862; ENSG00000019186. [Q07973-1]
ENST00000395954; ENSP00000379284; ENSG00000019186. [Q07973-3]
ENST00000395955; ENSP00000379285; ENSG00000019186. [Q07973-2]
GeneIDi1591.
KEGGihsa:1591.
UCSCiuc002xwu.2. human. [Q07973-1]

Organism-specific databases

CTDi1591.
DisGeNETi1591.
GeneCardsiCYP24A1.
HGNCiHGNC:2602. CYP24A1.
HPAiHPA022261.
HPA063771.
MalaCardsiCYP24A1.
MIMi126065. gene.
143880. phenotype.
neXtProtiNX_Q07973.
OpenTargetsiENSG00000019186.
Orphaneti300547. Autosomal recessive infantile hypercalcemia.
PharmGKBiPA27097.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0159. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000276540.
HOVERGENiHBG099053.
InParanoidiQ07973.
KOiK07436.
OMAiDYREEGY.
OrthoDBiEOG091G0MI3.
PhylomeDBiQ07973.
TreeFamiTF105094.

Enzyme and pathway databases

BioCyciMetaCyc:HS00395-MONOMER.
ZFISH:HS00395-MONOMER.
BRENDAi1.14.13.159. 2681.
ReactomeiR-HSA-196791. Vitamin D (calciferol) metabolism.
R-HSA-211916. Vitamins.
SABIO-RKQ07973.

Miscellaneous databases

ChiTaRSiCYP24A1. human.
GeneWikiiCYP24A1.
GenomeRNAii1591.
PROiQ07973.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000019186.
CleanExiHS_CYP24A1.
GenevisibleiQ07973. HS.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCP24A_HUMAN
AccessioniPrimary (citable) accession number: Q07973
Secondary accession number(s): Q15807, Q32ML3, Q5I2W7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 18, 2001
Last modified: November 30, 2016
This is version 153 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.