CYP24A1

Protein identityUniProt · HPA

UniProt accession

Q07973

Gene

CYP24A1

Ensembl

ENSG00000019186

Chromosome

20

Canonical length

514 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

514 residues, UniProt reviewed canonical sequence.

>Q07973|CYP24A1
     1  MSSPISKSRS LAAFLQQLRS PRQPPRLVTS TAYTSPQPRE VPVCPLTAGG ETQNAAALPG
    61  PTSWPLLGSL LQILWKGGLK KQHDTLVEYH KKYGKIFRMK LGSFESVHLG SPCLLEALYR
   121  TESAYPQRLE IKPWKAYRDY RKEGYGLLIL EGEDWQRVRS AFQKKLMKPG EVMKLDNKIN
   181  EVLADFMGRI DELCDERGHV EDLYSELNKW SFESICLVLY EKRFGLLQKN AGDEAVNFIM
   241  AIKTMMSTFG RMMVTPVELH KSLNTKVWQD HTLAWDTIFK SVKACIDNRL EKYSQQPSAD
   301  FLCDIYHQNR LSKKELYAAV TELQLAAVET TANSLMWILY NLSRNPQVQQ KLLKEIQSVL
   361  PENQVPRAED LRNMPYLKAC LKESMRLTPS VPFTTRTLDK ATVLGEYALP KGTVLMLNTQ
   421  VLGSSEDNFE DSSQFRPERW LQEKEKINPF AHLPFGVGKR MCIGRRLAEL QLHLALCWIV
   481  RKYDIQATDN EPVEMLHSGT LVPSRELPIA FCQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP24A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

32 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP24A1.

Disease | AllUniProt

Conditions CYP24A1 is implicated in, by any mechanism.

• Hypercalcemia, infantile, 1 (HCINF1) MIM:143880

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 456 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypercalcemia, infantile, 1
• CYP24A1-related disorder
• Renal tubulopathies
• Inborn genetic diseases
• Muscle spasm

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.54

gnomAD pLI

0

gnomAD missense Z

-1.1

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• osteoblast differentiation
• response to vitamin D
• vitamin D catabolic process
• vitamin D metabolic process
• vitamin D receptor signaling pathway
• vitamin metabolic process

Molecular functions

• 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity
• heme binding
• iron ion binding
• vitamin D3 25-hydroxylase activity
• 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity
• 25-hydroxycholecalciferol-23-hydroxylase activity
• 25-hydroxycholecalciferol-24-hydroxylase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group I
• Cytochrome P450, conserved site
• Cytochrome P450 superfamily
• Cytochrome P450, families 11 and 27
• Cytochrome P450

KeywordsUniProt

• Heme
• Iron
• Lipid metabolism
• Metal-binding
• Mitochondrion
• Monooxygenase
• Oxidoreductase
• Transit peptide