• Gene id: 1591

Gene Summary

• Gene Symbol: CYP24A1   Gene   UCSC   Ensembl
• Aliases: CP24, CYP24, HCAI, HCINF1, P450-CC24
• Gene name: cytochrome P450 family 24 subfamily A member 1
• Alternate names: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial, 1,25-@dihydroxyvitamin D3 24-hydroxylase, 24-OHase, cytochrome P450 24A1, cytochrome P450, family 24, subfamily A, polypeptide 1, cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase), cytochr,
• Gene location: 20q13.2 (54174031: 54145730)     Exons: 13     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 126065

Protein Summary

• Protein general information: Q07973  
  • Name: 1,25 dihydroxyvitamin D(3) 24 hydroxylase, mitochondrial (24 OHase) (Vitamin D(3) 24 hydroxylase) (EC 1.14.15.16) (Cytochrome P450 24A1) (Cytochrome P450 CC24)
  • Length: 514  
  • Mass: 58,875
  • Tissue specificity: Expressed in the promyelocytic cell line HL-60, the granulocyte-macrophage colony-stimulating factor-dependent leukemic cell line F-36P, and the IL3 and erythropoietin-dependent leukemic cell line F-36E. Expressed predominantly in epit
• Sequence:

  MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILW
  KGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLIL
  EGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFG
  LLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD
  FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMP
  YLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPF
  AHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000216862
• Other Databases: GeneCards:  CYP24A1  Malacards:  CYP24A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0008403	25-hydroxycholecalciferol-24-hydroxylase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	NAS	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0033280	response to vitamin D	IDA	biological process
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0042369	vitamin D catabolic process	NAS	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070561	vitamin D receptor signaling pathway	NAS	biological process
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0008403	25-hydroxycholecalciferol-24-hydroxylase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	NAS	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0033280	response to vitamin D	IDA	biological process
GO:0042359	vitamin D metabolic process	IEA	biological process
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0042369	vitamin D catabolic process	NAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070561	vitamin D receptor signaling pathway	NAS	biological process
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	NAS	molecular function
GO:0020037	heme binding	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS	molecular function
GO:0033280	response to vitamin D	IDA	biological process
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0042369	vitamin D catabolic process	NAS	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070561	vitamin D receptor signaling pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Cancer (breast)	GAD: 17244366
Cancer	GAD: 17244366
Cancer (bladder)	GAD: 19692168
Cancer (colon)	GAD: 18843020
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (prostate)	GAD: 19255064
Cardiovascular disease	GAD: 19891555
Hypertension	GAD: 19891555
Asthma	GAD: 16600026
Multiple sclerosis	GAD: 20007432
Hypercalcemia	GAD: 20394945
Diabetes	GAD: 17606874
Bone diseases	GAD: 19453261
Chronic renal failure	GAD: 21085059
Semen quality	MIK: 22404291
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Calcinosis	GAD: 20847308
Semen quality	MIK: 22404291
Male infertility	MIK: 22404291
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22404291	Semen quality, Male infertility			170 (130 men (53 healthy young volunteers and 77 subfertile men), 40 men (22 young, 18 subfertile))	Male infertility
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray