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FLASH GENE

Symbol

CYP27B1

contributors: mct/npt - updated : 27-06-2009

HGNC name	cytochrome P450, family 27, subfamily B, polypeptide 1
HGNC id	2606

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PDDR pseudo-vitamin D deficiency rickets, type I
Location	12q14.1      Physical location : 58.156.116 - 58.160.976
Synonym name	cytochrome P450, family 27, subfamily B, polypeptide 1
	25 hydroxyvitamin D3-1 alpha-hydroxylase
	cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1
	VD3 1A hydroxylase
	25-OHD-1 alpha-hydroxylase
	pseudo-vitamin D dependency rickets 1
Synonym symbol(s)	CYP25D1A, VDR, CYP1, VDD1, P450C1, VDDRI, CYP27B, CP2B
EC.number	1.14.13.13

DNA

TYPE	functioning gene
STRUCTURE	4.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	noncoding splice variants of CYP27b1 are functionally active and may play a significant role in the regulation of 1, 25(OH)2D3 synthesis during normal physiology (Wu 2007)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 9 - 2503 isoform 1 - 508 - Takeyama (1997)

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Urinary kidney tubule convoluted tubule proximal tubule highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol skin tegument hair follicle Urinary epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

interspecies

homolog to murine Cyp40

Homologene

FAMILY	cytochrome P450 subfamily XXVIIB
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner

basic FUNCTION	plays a pivotal role in vitamin D physiology by catalyzing synthesis of active 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (Wu 2007)
	putative intracrine modulator of vitamin D function in peripheral tissues
	acting predominantly on endochondral bone formation
	during pregnancy, calcitriol, the active metabolite of vitamin D, is metabolized by decidua and placental tissue by means of CYP27B1 and CYP24A1 for synthesis and inactivation of calcitriol respectively(PMIDC:

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , electron transport , detoxification

text	involved in normal bone growth, tissue differentiation and calcium homeostasis, oxidative metabolism

PATHWAY

metabolism

drug , lipid/lipoprotein , vitamin

signaling

vitamin biosynthesis

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PDDR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in renal cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

targeted ablation induces skeletal, reproductive, immune dysfunction