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FLASH GENE

Symbol

EXT1

contributors: mct/npt - updated : 25-05-2010

HGNC name	exostosin 1
HGNC id	3512

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDSM chondrosarcoma EXT1 exostoses, multiple, 1
Location	8q24.11      Physical location : 118.811.601 - 119.124.058
Synonym name	exostoses (multiple) 1
	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
	multiple exostoses protein 1
	putative tumor suppressor protein EXT1
	Langer-Giedion syndrome chromosome region
Synonym symbol(s)	EXT, ttv, LGCR, LGS
EC.number	2.4.1.224, 2.4.1.225

DNA

TYPE	functioning gene
STRUCTURE	312.46 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	housekeeping

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000127 11 - 3376 NP_000118 - 746 - Ludecke (1997)

EXPRESSION

Type	ubiquitous

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 pharynx       highly Endocrine thyroid       highly Respiratory respiratory tract larynx     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-acetylglucosamine I and II
	glucoronyl transferase activities

conjugated

GlycoP

mono polymer

heteromer , oligo

HOMOLOGY

interspecies	homolog to murine ext1
	homolog to C.elegans F13h10.4
	homolog to Drosophila tout velu

intraspecies

homolog to EXT2

Homologene

FAMILY	exostosin family
	glycosyltransferase 47 family

CATEGORY

enzyme , regulatory , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	accumulating in the Golgi network
	type 2 transmembrane glycoprotein

basic FUNCTION	glycosyltransferase having N-acetylglucosaminyl and glucoronyl transferase activity involved in the chain elongation in heparan sulfate/heparin biosynthesis
	playing a role in axon guidance throught heparan sulfate
	playing an important role in the pathogenesis of sporadic as well as hereditary osteochondromas
	functioning as a heparan sulfate (HS) co-polymerase, and involved in elongation of glycosaminoglycan side chains on core proteins of HS proteoglycans
	glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans (Roberts 2008)

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

ossification

text	participating to the development of cytoskeleton of chondrocytes
	regulating endochondral ossification

PATHWAY

metabolism

carbohydrate

signaling

a component	oligomerizing with EXT2 constituent of a stable H5 (heparan sulfate) polymerase complex
	with EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis (Busse 2007)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EXT1 , CDSM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       or germinal mutations in osteochondroma tumoral   LOH     in secondary chondrosarcoma tumoral somatic mutation       in hepatocellular carcinoma tumoral     --low   in acute promyelocytic and acute lymphoblastic leukemia, by hypermethylation associated to transcriptional silencing

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS