Endometriosis Knowledgebase

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Gene id

1591

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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), cytochrome P450-CC24, exo-mitochondrial protein, vitamin D 24-hydroxylase, vitamin D(3) 24-hydroxylase,

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 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]

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

Sequence

MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILW
KGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLIL
EGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFG
LLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD
FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMP
YLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPF
AHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR

Structural information

Interpro:	IPR001128 IPR017972 IPR002401 IPR036396
Prosite:	PS00086
Pfam:	PF00067
MINT:
STRING:	ENSP00000216862;

Other Databases

GeneCards: CYP24A1; Malacards: CYP24A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001649	osteoblast differentiatio n	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 membr ane	TAS	cellular_component
GO:0005743	mitochondrial inner membr ane	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-dihydroxyvitam in D3 24-hydroxylase acti vity	IDA	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0033280	response to vitamin D	IDA	biological_process
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0042369	vitamin D catabolic proce ss	NAS	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0070561	vitamin D receptor signal ing pathway	NAS	biological_process
GO:0001649	osteoblast differentiatio n	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 membr ane	TAS	cellular_component
GO:0005743	mitochondrial inner membr ane	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 red uction of molecular oxyge n	IEA	molecular_function
GO:0020037	heme binding	IEA	molecular_function
GO:0020037	heme binding	TAS	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	IDA	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0033280	response to vitamin D	IDA	biological_process
GO:0042359	vitamin D metabolic proce ss	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0042369	vitamin D catabolic proce ss	NAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0070561	vitamin D receptor signal ing pathway	NAS	biological_process
GO:0001649	osteoblast differentiatio n	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 membr ane	TAS	cellular_component
GO:0005743	mitochondrial inner membr ane	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-dihydroxyvitam in D3 24-hydroxylase acti vity	IDA	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0030342	1-alpha,25-dihydroxyvitam in D3 24-hydroxylase acti vity	TAS	molecular_function
GO:0033280	response to vitamin D	IDA	biological_process
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0042369	vitamin D catabolic proce ss	NAS	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0070561	vitamin D receptor signal ing pathway	NAS	biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways

Diseases

Associated diseases	References
Adenocarcinoma	GAD20453000
Prostate cancer	GAD19255064
Multiple sclerosis	GAD20007432
Lung cancer	GAD18676680
Hypercalcemia	GAD20394945
Heart defects	GAD19891555
Diabetes	GAD15918014
Colonic Neoplasms	GAD18843020
Chronic renal failure	GAD21085059
Chronic obstructive pulmonary disease (COPD)	GAD19625176
Calcinosis	GAD20847308
Breast cancer	GAD17244366
Bladder cancer	GAD19692168
Asthma	GAD19852851
Asthma	GAD16600026
Hypercalcemia	OMIM143880
Endometriosis	PubMed28131909
Hypercalcemia infantile	KEGGH01371

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28131909	Endometrio sis						Show abstract