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FLASH GENE

Symbol

DBP

contributors: mct - updated : 09-05-2012

HGNC name	D site of albumin promoter (albumin D-box) binding protein
HGNC id	2697

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.33      Physical location : 49.133.817 - 49.140.639
Synonym name	vitamin D-binding protein
Synonym symbol(s)	DABP

DNA

TYPE	functioning gene
STRUCTURE	6.82 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - CEBPA - MAG - DBP - LHB - KLK1 - qter
Authors	Stubbs (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001352 4 - 1658 NP_001343 - 325 - 1999 10364202

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 Digestive liver         Nervous brain diencephalon hypothalamus suprachiasmatic nuclei     nerve       highly Urinary kidney         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	basic region, leucine zipper, proline and acidic aminoacids rich
	a DAGKC domain

mono polymer

aggregate

HOMOLOGY

Homologene

FAMILY

PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	catalyzing the phosphorylation of sphingosine to form sphingosine 1-phosphate, a lipid mediator with both intra- and extracellular function
	preventing loss of 25(OH)D3
	release of DBP at sites of endothelial injury represents a novel pathway favoring accumulation of vascular smooth muscle cells at sites of vascular injury
	multifunctional transport protein with a decreased serum concentration in cystic fibrosis (CF)
	important to total circulating 1,25(OH)(2)D(3) and sequesters extracellular levels of this hormone, but the binding protein)does not influence the hormone biologically active pool
	role of vitamin D binding protein in multiple sclerosis
	DBP and NFIL3 proteins are critical for determining the period length of the circadian oscillator
	association between vitamin D homeostasis and intestinal inflammation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

metal , vitamin

signaling

modulating important clock output genes

a component

with 25(OH)D3

INTERACTION

DNA

RNA

small molecule

protein	to calmodulin
	binds to and transports vitamin D to target tissues to maintain calcium homeostasis through the vitamin D endocrine system
	modifies the vitamin D-bone mineral density relationship
	ARNTL and CLOCK may act as Kamikaze activators, in that they are rapidly degraded once bound to DBP chromatin

cell & other

REGULATION

Other

strong circadian rhythmicity

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   Decreased serum DBP concentrations were observed in the CF

Susceptibility

to inflammatory bowel disease to chronic obstructive pulmonary disease

Variant & Polymorphism other	inverse association between the DBP 420 Lys and inflammatory bowel disease
	association of DBP variants with susceptibility to chronic obstructive pulmonary disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS