Entity Details

Primary name CP24A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ07973
EntryNameCP24A_HUMAN
FullName1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length514
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesCYP24A1

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0005506 iron ion binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006766 vitamin metabolic process
GO:0008403 25-hydroxycholecalciferol-24-hydroxylase activity
GO:0010430 fatty acid omega-oxidation
GO:0020037 heme binding
GO:0030342 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity
GO:0033280 response to vitamin D
GO:0042359 vitamin D metabolic process
GO:0042369 vitamin D catabolic process
GO:0062180 25-hydroxycholecalciferol-23-hydroxylase activity
GO:0062181 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity
GO:0070561 vitamin D receptor signaling pathway
GO:0070643 vitamin D 25-hydroxylase activity

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR001128 Cytochrome P450FamilyFamily
IPR002401 Cytochrome P450, E-class, group IFamilyFamily
IPR017972 Cytochrome P450, conserved siteSiteConserved site
IPR036396 Cytochrome P450 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
143880 OMIMHypercalcemia, infantile, 1 (HCINF1)A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00136 CalcitriolDrugbanksmall molecule
DB00146 CalcifediolDrugbanksmall molecule
DB00153 ErgocalciferolDrugbanksmall molecule
DB00910 ParicalcitolDrugbanksmall molecule
DB01285 CorticotropinDrugbankbiotech
DB02300 CalcipotriolDrugbanksmall molecule
DB05024 CTA018Drugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CP24A_HUMANFZR1_HUMANBioGRID32165494 details
CP24A_HUMANCDC20_HUMANBioGRID32165494 details