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FLASH GENE

Symbol

B3GAT3

contributors: mct - updated : 12-07-2013

HGNC name	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
HGNC id	923

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LRLS Larsen like syndrome , B3GAT3 type
Location	11q12.2      Physical location : 62.382.768 - 62.389.448
Synonym name	glycosaminoglycan glucuronyltransferase 1
	glucuronosyltransferase-I
	UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase
	Sqv-8-like protein
Synonym symbol(s)	GLCAT1, B3G3, GlcAT-I
EC.number	2.4.1.135

DNA

TYPE	functioning gene
STRUCTURE	6.88 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two common 5' exons

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012200 5 - 1679 NP_036332 37 335 - 2000 10842173 including exons 3, 4, 5 transcript 2 - - 1930 - - - 2000 10842173 including exons 6, 12

EXPRESSION

Type

widely

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 blood / hematopoietic thymus         Digestive liver       lowly Endocrine pancreas       highly Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cell lineage
cell lines	melanoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a short cytoplasmic N terminal tail
	a hydrophobic transmembrane segment (TM1)
	a proline rich region
	a nucleotide binding site containing a XDD motif rather than a DXD motif
	a C terminal catalytic domain
	potential N glycosylation sites

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies

ortholog to rattus Glcatp

Homologene

FAMILY

glucuronyltransferase family 43

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	type 2 membrane protein

basic FUNCTION	glycoserine-specific glucoronyl transferase in the synthesis of the glycosaminoglycan protein linkage region of proteoglycans
	able to control and reverse articular cartilage defects in terms of PG anabolism and GAG content associated with IL1B
	catalyzes an initial step in the synthesis of glycosaminoglycan side chains of proteoglycans

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Mn2+ is not only essential for its activity but is also required for cosubstrate binding

protein

cell & other

REGULATION

inhibited by

EDTA

ASSOCIATED DISORDERS

corresponding disease(s)

LRLS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice with a deletion of GlcAT-I showed remarkable reduction of the synthesis of chondroitin sulfate and heparan sulfate and embryonic lethality before the 8-cell stage because of failed cytokinesis