InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP24A1

Summary

InnateDB Protein

IDBP-81621.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP24A1

Protein Name

cytochrome P450, family 24, subfamily A, polypeptide 1

Synonyms

CP24; CYP24; HCAI; P450-CC24;

Species

Homo sapiens

Ensembl Protein

ENSP00000216862

InnateDB Gene

IDBG-81619 (CYP24A1)

Protein Structure

UniProt Annotation

Function

Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). 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 D(3)-26,23-lactone as end product.

Subcellular Localization

Mitochondrion.

Disease Associations

Hypercalcemia infantile (HCAI) [MIM:143880]: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. {ECO:0000269PubMed:21675912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0008403	25-hydroxycholecalciferol-24-hydroxylase activity
GO:0016491	oxidoreductase activity
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding
GO:0030342	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity

Biological Process

GO:0001649	osteoblast differentiation
GO:0006766	vitamin metabolic process
GO:0006805	xenobiotic metabolic process
GO:0008202	steroid metabolic process
GO:0033280	response to vitamin D
GO:0042359	vitamin D metabolic process
GO:0042369	vitamin D catabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0070561	vitamin D receptor signaling pathway

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR002403 Cytochrome P450, E-class, group IV
IPR002949 Cytochrome P450, E-class, CYP24A, mitochondrial

PFAM

PF00067

PRINTS

PR00385
PR00463
PR00465
PR01238

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q07973