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FLASH GENE
Symbol EXTL1 contributors: - updated : 20-07-2006
HGNC name exostoses (multiple)-like 1
HGNC id 3515
Location 1p36.1      Physical location : 26.348.270 - 26.362.952
Synonym name exostosin-like 1
Synonym symbol(s) EXTL
EC.number 2.4.1.224
DNA
TYPE functioning gene
STRUCTURE 14.00 kb     11 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - ENO1 - NPPA - D1S482 - ID3 - D1S234 - D1S60 - STMN1 - EXTL1 - D1S247 - GJA4 - D1S241 - MYCL1 - cen
Authors Wuyts (99)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouthtongue  highly
Nervousbrain   highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
alpha 1,4 N glucosaminyltransferase 1 activity, DXD motif common to most glycosyltransferases
HOMOLOGY
intraspecies paralog to EXT1,EXT2,EXTL1,EXTL3
Homologene
FAMILY glycosyltransferase 47 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION alpha 1,4-N acetylglucosaminyltransferase involved in the chain elongation of heparan sulfate,and maybe heparin
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism carbohydrate
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
ANIMAL & CELL MODELS