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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

Corresponding disease	NISDS neuro-immuno-skeletal dysplasia syndrome
Location	8p21.1      Physical location : 28.559.152 - 28.611.202
Genatlas name	see TSG8D
Synonym name	exostosin-like 3
	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
	putative tumor suppressor protein EXTL3
	hereditary multiple exostoses gene isolog
Synonym symbol(s)	EXTR1, REG, RPR, KIAA0519, botv, EXTL1L, DKFZp686C2342
EC.number	2.4.1.223

DNA

TYPE	functioning gene
STRUCTURE	52.22 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D8S136 - [D8S137 , TSG8D , D8S1161 ] - EXTL3 - D8S339 - cen
Authors	Van Hul (98)

RNA

TRANSCRIPTS	type	messenger

text	it is uncertain whether met1, met6 or met20 is the initiator

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001440 7 - 6351 NP_001431 104.7 919 predominant in brain, skeletal muscle and testis Saito, Kim (2002) larger transcript shorter transcript - - 4700 - - predominant in heart, liver, thymus and prostate Saito

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 Skin/Tegument skin       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

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