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FLASH GENE

Symbol

EXTL3

contributors: mct - updated : 18-02-2014

HGNC name	exostoses (multiple)-like 3
HGNC id	3518

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

alpha 1,4-N acetylglucosaminyltransferase 1 and 2 activities DXD motif common to the most glycosyltransferase

HOMOLOGY

interspecies	homolog to murine Extl3
	homolog to C.elegans k01g5.6

intraspecies

paralog to EXTL1,EXTL3,EXT1,EXT2

Homologene

FAMILY	EXT1 and EXT2-related protein family
	exostosin (EXT) family of glycosyltransferases

CATEGORY

enzyme , tumor suppressor , receptor membrane

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	type II membrane protein
	REG1A colocalizes with exostosin tumor-like 3 (EXTL3), its putative receptor, at the membrane of these cells

basic FUNCTION	alpha 1,4-N acetylglucosaminyltransferase involved in chain initiation and elongation of heparan sulfate
	receptor for REG protein and mediating a growth signal of REG protein for beta cell regeneration
	playing an essential role in the biosynthesis of heparan sulfate and heparin
	regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis
	plays an important role at the thymic stage of T cell development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

REG1A regulates neurite outgrowth, suggesting that this effect is mediated by its receptor EXTL3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NISDS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   gastrointestinal (GI) malignancies including colorectal cancer tumoral     --low   EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of heparan sulfate expression in mucinous colorectal cancer

Susceptibility

breast cancer

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism mucopolysaccharide   gene silencing of EXTL2 and EXTL3 are a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses

ANIMAL & CELL MODELS