CYP24A1

Functionⁱ

Has a role in maintaining calcium homeostasis. Catalyzes the adrenodoxin-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 D₃-26,23-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 key	Position(s)	DescriptionActions	Graphical view	Length
Metal bindingⁱ	462	Iron (heme axial ligand)By similarity		1

GO - Molecular functionⁱ

1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 8506296
25-hydroxycholecalciferol-24-hydroxylase activity Source: Ensembl
heme binding
Source: UniProtKB
Traceable author statementⁱ
- 8506296
iron ion binding Source: InterPro
oxidoreductase activity
Source: UniProtKB
Non-traceable author statementⁱ
- 7632726

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

osteoblast differentiation
Source: BHF-UCL
Inferred from expression patternⁱ
- 17023519
oxidation-reduction process
Source: UniProtKB
Inferred from direct assayⁱ
- 8506296
response to vitamin D
Source: BHF-UCL
Inferred from direct assayⁱ
- 16720713
vitamin D catabolic process
Source: BHF-UCL
Non-traceable author statementⁱ
- 16720713
vitamin D metabolic process Source: Reactome
vitamin D receptor signaling pathway
Source: BHF-UCL
Non-traceable author statementⁱ
- 16720713
vitamin metabolic process Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Monooxygenase, Oxidoreductase
Ligand	Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS00395-MONOMER
BRENDAⁱ	1.14.13.159 2681
Reactomeⁱ	R-HSA-196791 Vitamin D (calciferol) metabolism R-HSA-211916 Vitamins R-HSA-5579010 Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
SABIO-RKⁱ	Q07973
SIGNORⁱ	Q07973

Chemistry databases

SwissLipidsⁱ	SLP:000001269

SwissLipidsⁱ

SLP: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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 20

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000019186.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2602 CYP24A1
MIMⁱ	126065 gene
neXtProtⁱ	NX_Q07973

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1591
MalaCards human disease database More...MalaCardsⁱ	CYP24A1
MIMⁱ	143880 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000019186
Orphanetⁱ	300547 Autosomal recessive infantile hypercalcemia
PharmGKBⁱ	PA27097

Chemistry databases

ChEMBLⁱ	CHEMBL4521
Drug and drug target database More...DrugBankⁱ	DB00146 Calcidiol DB02300 Calcipotriol DB00136 Calcitriol DB01285 Corticotropin DB05024 CTA018 DB00153 Ergocalciferol DB00910 Paricalcitol
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	1365

Polymorphism and mutation databases

BioMutaⁱ	CYP24A1
DMDMⁱ	19862747

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transit peptideⁱ	1 – 35	MitochondrionBy similarityAdd BLAST		35
ChainⁱPRO_0000003615	36 – 514	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrialAdd BLAST		479

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q07973
PaxDbⁱ	Q07973
PeptideAtlas More...PeptideAtlasⁱ	Q07973
PRIDEⁱ	Q07973
ProteomicsDBⁱ	58564 58565 [Q07973-2]

PTM databases

iPTMnetⁱ	Q07973
PhosphoSitePlusⁱ	Q07973

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000019186 Expressed in 95 organ(s), highest expression level in adult mammalian kidney
CleanExⁱ	HS_CYP24A1
Genevisibleⁱ	Q07973 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA022261 HPA063771

HPAⁱ

HPA022261
HPA063771

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	107963, 5 interactors
IntActⁱ	Q07973, 2 interactors
Molecular INTeraction database More...MINTⁱ	Q07973
STRINGⁱ	9606.ENSP00000216862

Chemistry databases

BindingDBⁱ

Q07973

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q07973
SMRⁱ	Q07973
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the cytochrome P450 family.Curated

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	KOG0159 Eukaryota COG2124 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140779
HOGENOMⁱ	HOG000276540
HOVERGENⁱ	HBG099053
InParanoidⁱ	Q07973
KEGG Orthology (KO) More...KOⁱ	K07436
OMAⁱ	EILWKGG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0MI3
PhylomeDBⁱ	Q07973
TreeFamⁱ	TF105094

Family and domain databases

Gene3Dⁱ	1.10.630.10, 1 hit
InterProⁱ	View protein in InterPro IPR001128 Cyt_P450 IPR017972 Cyt_P450_CS IPR002401 Cyt_P450_E_grp-I IPR036396 Cyt_P450_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00067 p450, 1 hit
PRINTSⁱ	PR00463 EP450I PR00385 P450
SUPFAMⁱ	SSF48264 SSF48264, 1 hit
PROSITEⁱ	View protein in PROSITE PS00086 CYTOCHROME_P450, 1 hit

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. Align Add to basket

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

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

« 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 
ATVLGEYALP KGIVRKYDIQ ATDNEPVEML HSGTLVPSRE LPIAFCQR

Note: No experimental confirmation available.

Show »

Length:448

Mass (Da):51,207

Checksum:ⁱ7A4DF62B195B6F9B

GO

Isoform 3 (identifier: Q07973-3) [UniParc]FASTA Add 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.

« Hide

        10         20         30         40         50
MYSCFSHREG EDWQRVRSAF QKKLMKPGEV MKLDNKINEV LADFMGRIDE 
        60         70         80         90        100
LCDERGHVED LYSELNKWSF ESICLVLYEK RFGLLQKNAG DEAVNFIMAI 
       110        120        130        140        150
KTMMSTFGRM MVTPVELHKS LNTKVWQDHT LAWDTIFKSV KACIDNRLEK 
       160        170        180        190        200
YSQQPSADFL CDIYHQNRLS KKELYAAVTE LQLAAVETTA NSLMWILYNL 
       210        220        230        240        250
SRNPQVQQKL LKEIQSVLPE NQVPRAEDLR NMPYLKACLK ESMRLTPSVP 
       260        270        280        290        300
FTTRTLDKAT VLGEYALPKG TVLMLNTQVL GSSEDNFEDS SQFRPERWLQ 
       310        320        330        340        350
EKEKINPFAH LPFGVGKRMC IGRRLAELQL HLALCWIVRK YDIQATDNEP 
       360        370 
VEMLHSGTLV PSRELPIAFC QR

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 key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	68	G → A in AAA62379 (PubMed:8506296).Curated	1
Sequence conflictⁱ	68	G → A in AAB03776 (PubMed:8506296).Curated	1
Sequence conflictⁱ	124 – 125	AY → V in AAA62379 (PubMed:8506296).Curated	2
Sequence conflictⁱ	270	D → G in AAA62379 (PubMed:8506296).Curated	1
Sequence conflictⁱ	365	V → R in AAA62379 (PubMed:8506296).Curated	1
Sequence conflictⁱ	368	A → E in AAA62379 (PubMed:8506296).Curated	1
Sequence conflictⁱ	390	S → G in AAA62379 (PubMed:8506296).Curated	1
Sequence conflictⁱ	511	F → S in AAB29308 (PubMed:8266831).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_066408	143	Missing in HCINF1; complete loss of function. 1 Publication	1
Natural variantⁱVAR_048464	157	R → Q. Corresponds to variant dbSNP:rs35051736Ensembl.	1
Natural variantⁱVAR_066409	159	R → Q in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907322EnsemblClinVar.	1
Natural variantⁱVAR_066410	322	E → K in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907324EnsemblClinVar.	1
Natural variantⁱVAR_048465	374	M → T. Corresponds to variant dbSNP:rs6022990EnsemblClinVar.	1
Natural variantⁱVAR_066411	396	R → W in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs114368325EnsemblClinVar.	1
Natural variantⁱVAR_048466	409	L → S in HCINF1; retains small but measurable levels of activity. 1 PublicationCorresponds to variant dbSNP:rs6068812EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_053367	1 – 8	MSSPISKS → MYSCFSHR in isoform 3. 1 Publication	8
Alternative sequenceⁱVSP_053368	9 – 150	Missing in isoform 3. 1 PublicationAdd BLAST	142
Alternative sequenceⁱVSP_043101	413 – 478	Missing in isoform 2. 1 PublicationAdd BLAST	66

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L13286 mRNA Translation: AAA62379.1 AY858838 mRNA Translation: AAW50795.1 AL138805 Genomic DNA No translation available. BC109083 mRNA Translation: AAI09084.1 BC109084 mRNA Translation: AAI09085.1 U60669 Genomic DNA Translation: AAB03776.1 Sequence problems. S67623 mRNA Translation: AAB29308.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33491.1 [Q07973-1] CCDS46616.1 [Q07973-2]
PIRⁱ	A47436 I55488
NCBI Reference Sequences More...RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.89663

Genome annotation databases

Ensemblⁱ	ENST00000216862; ENSP00000216862; ENSG00000019186 [Q07973-1] ENST00000395954; ENSP00000379284; ENSG00000019186 [Q07973-3] ENST00000395955; ENSP00000379285; ENSG00000019186 [Q07973-2]
GeneIDⁱ	1591
KEGGⁱ	hsa:1591
UCSC genome browser More...UCSCⁱ	uc002xwu.2 human [Q07973-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q07973	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial		MACMU		518	UniRef90_Q07973
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial		MACFA		518
Cytochrome P450 family 24 subfamily A member 1		RHIRO		514
CYP24A1 isoform 1		PONAB		514
Uncharacterized protein		COLAP		514
+15
Q07973-2	Uncharacterized protein		MACMU		448	UniRef90_Q07973-2
Cytochrome P450 family 24 subfamily A member 1		CALJA		448
Uncharacterized protein		COLAP		448
CYP24A1 isoform 2		PONAB		448
Cytochrome P450 family 24 subfamily A member 1		PANTR		448
+14
Q07973-3	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (Fragment)		NEOVI		376	UniRef90_Q07973-3
CYP24A1 isoform 4		PONAB		372

Protein	Similar proteins		Species	Score	Length	Source
Q07973	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial		MACFA		518	UniRef50_Q07973
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial		MACMU		518
Cytochrome P450 family 24 subfamily A member 1		GORGO		514
Uncharacterized protein		COLAP		514
Cytochrome P450 family 24 subfamily A member 1		RHIRO		514
+28
Q07973-2	Cytochrome P450 family 24 subfamily A member 1		PANTR		448	UniRef50_Q07973-2
Cytochrome P450 family 24 subfamily A member 1		CALJA		448
Uncharacterized protein		COLAP		448
Uncharacterized protein		RHIBE		448
Uncharacterized protein		MACMU		448
+129
Q07973-3	1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (Fragment)		NEOVI		376	UniRef50_Q07973-3
CYP24A1 isoform 4		PONAB		372
Uncharacterized protein (Fragment)		CORBR		387
Uncharacterized protein		TAEGU		386
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like protein (Fragment)		CALMI		385
+4

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 No translation available. BC109083 mRNA Translation: AAI09084.1 BC109084 mRNA Translation: AAI09085.1 U60669 Genomic DNA Translation: AAB03776.1 Sequence problems. S67623 mRNA Translation: AAB29308.1
CCDSⁱ	CCDS33491.1 [Q07973-1] CCDS46616.1 [Q07973-2]
PIRⁱ	A47436 I55488
RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.89663

3D structure databases

ProteinModelPortalⁱ	Q07973
SMRⁱ	Q07973
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107963, 5 interactors
IntActⁱ	Q07973, 2 interactors
MINTⁱ	Q07973
STRINGⁱ	9606.ENSP00000216862

Chemistry databases

BindingDBⁱ	Q07973
ChEMBLⁱ	CHEMBL4521
DrugBankⁱ	DB00146 Calcidiol DB02300 Calcipotriol DB00136 Calcitriol DB01285 Corticotropin DB05024 CTA018 DB00153 Ergocalciferol DB00910 Paricalcitol
GuidetoPHARMACOLOGYⁱ	1365
SwissLipidsⁱ	SLP:000001269

PTM databases

iPTMnetⁱ	Q07973
PhosphoSitePlusⁱ	Q07973

Polymorphism and mutation databases

BioMutaⁱ	CYP24A1
DMDMⁱ	19862747

Proteomic databases

MaxQBⁱ	Q07973
PaxDbⁱ	Q07973
PeptideAtlasⁱ	Q07973
PRIDEⁱ	Q07973
ProteomicsDBⁱ	58564 58565 [Q07973-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000216862; ENSP00000216862; ENSG00000019186 [Q07973-1] ENST00000395954; ENSP00000379284; ENSG00000019186 [Q07973-3] ENST00000395955; ENSP00000379285; ENSG00000019186 [Q07973-2]
GeneIDⁱ	1591
KEGGⁱ	hsa:1591
UCSCⁱ	uc002xwu.2 human [Q07973-1]

Organism-specific databases

CTDⁱ	1591
DisGeNETⁱ	1591
EuPathDBⁱ	HostDB:ENSG00000019186.9
GeneCardsⁱ	CYP24A1
H-InvDBⁱ	HIX0040564
HGNCⁱ	HGNC:2602 CYP24A1
HPAⁱ	HPA022261 HPA063771
MalaCardsⁱ	CYP24A1
MIMⁱ	126065 gene 143880 phenotype
neXtProtⁱ	NX_Q07973
OpenTargetsⁱ	ENSG00000019186
Orphanetⁱ	300547 Autosomal recessive infantile hypercalcemia
PharmGKBⁱ	PA27097
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0159 Eukaryota COG2124 LUCA
GeneTreeⁱ	ENSGT00900000140779
HOGENOMⁱ	HOG000276540
HOVERGENⁱ	HBG099053
InParanoidⁱ	Q07973
KOⁱ	K07436
OMAⁱ	EILWKGG
OrthoDBⁱ	EOG091G0MI3
PhylomeDBⁱ	Q07973
TreeFamⁱ	TF105094

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS00395-MONOMER
BRENDAⁱ	1.14.13.159 2681
Reactomeⁱ	R-HSA-196791 Vitamin D (calciferol) metabolism R-HSA-211916 Vitamins R-HSA-5579010 Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
SABIO-RKⁱ	Q07973
SIGNORⁱ	Q07973

Miscellaneous databases

ChiTaRSⁱ	CYP24A1 human
GeneWikiⁱ	CYP24A1
GenomeRNAiⁱ	1591
Protein Ontology More...PROⁱ	PR:Q07973
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000019186 Expressed in 95 organ(s), highest expression level in adult mammalian kidney
CleanExⁱ	HS_CYP24A1
Genevisibleⁱ	Q07973 HS

Family and domain databases

Gene3Dⁱ	1.10.630.10, 1 hit
InterProⁱ	View protein in InterPro IPR001128 Cyt_P450 IPR017972 Cyt_P450_CS IPR002401 Cyt_P450_E_grp-I IPR036396 Cyt_P450_sf
Pfamⁱ	View protein in Pfam PF00067 p450, 1 hit
PRINTSⁱ	PR00463 EP450I PR00385 P450
SUPFAMⁱ	SSF48264 SSF48264, 1 hit
PROSITEⁱ	View protein in PROSITE PS00086 CYTOCHROME_P450, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CP24A_HUMAN
Accessionⁱ	Q07973Primary (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 7, 2018
	This is version 170 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

UniProtKB

UniParc

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UniRef

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Supporting data

UniProtKB - Q07973 (CP24A_HUMAN)

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

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Chemistry databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

Nucleus

Plasma Membrane

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ