InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP27B1

Summary

InnateDB Protein

IDBP-43757.6

Last Modified

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

Gene Symbol

CYP27B1

Protein Name

cytochrome P450, family 27, subfamily B, polypeptide 1

Synonyms

CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR;

Species

Homo sapiens

Ensembl Protein

ENSP00000228606

InnateDB Gene

IDBG-43755 (CYP27B1)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.

Subcellular Localization

Mitochondrion membrane.

Disease Associations

Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700]: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. {ECO:0000269PubMed:10320521, ECO:0000269PubMed:10566658, ECO:0000269PubMed:12050193, ECO:0000269PubMed:9486994, ECO:0000269PubMed:9837822}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004498	calcidiol 1-monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding

Biological Process

GO:0006766	vitamin metabolic process
GO:0006805	xenobiotic metabolic process
GO:0006816	calcium ion transport
GO:0008202	steroid metabolic process
GO:0008285	negative regulation of cell proliferation
GO:0010956	negative regulation of calcidiol 1-monooxygenase activity
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity
GO:0030282	bone mineralization
GO:0030308	negative regulation of cell growth
GO:0030500	regulation of bone mineralization
GO:0032496	response to lipopolysaccharide
GO:0033280	response to vitamin D
GO:0034341	response to interferon-gamma
GO:0036378	calcitriol biosynthetic process from calciol
GO:0042359	vitamin D metabolic process
GO:0042369	vitamin D catabolic process
GO:0043627	response to estrogen
GO:0044281	small molecule metabolic process
GO:0045618	positive regulation of keratinocyte differentiation
GO:0046697	decidualization
GO:0055074	calcium ion homeostasis
GO:0055114	oxidation-reduction process
GO:0070314	G1 to G0 transition
GO:0070564	positive regulation of vitamin D receptor signaling pathway