Homo sapiens Gene: EXT1
Summary
InnateDB Gene IDBG-33534.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EXT1
Gene Name exostosin 1
Synonyms EXT; LGCR; LGS; TRPS2; TTV;
Species Homo sapiens
Ensembl Gene ENSG00000182197
Encoded Proteins
exostosin 1
exostosin 1
exostosin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:117794490-118111853
Strand Reverse strand
Band q24.11
Transcripts
ENST00000378204 ENSP00000367446
ENST00000437196 ENSP00000407299
ENST00000436216 ENSP00000400372
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008375 acetylglucosaminyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0050509 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0007165 signal transduction
GO:0007369 gastrulation
GO:0007411 axon guidance
GO:0007420 brain development
GO:0007492 endoderm development
GO:0007498 mesoderm development
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0021772 olfactory bulb development
GO:0030203 glycosaminoglycan metabolic process
GO:0033692 cellular polysaccharide biosynthetic process
GO:0044281 small molecule metabolic process
GO:0072498 embryonic skeletal joint development
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031227 intrinsic component of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
HS-GAG biosynthesis pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.44609 Hs.44690 Hs.492618 Hs.606813 Hs.613910
RefSeq NM_000127
HUGO
OMIM
CCDS CCDS6324
HPRD 00598
IMGT
EMBL
GenPept
RNA Seq Atlas