Version 5.4
Mus musculus Gene: Ext1
Summary
InnateDB Gene IDBG-140304.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ext1
Gene Name exostoses (multiple) 1
Synonyms AA409028
Species Mus musculus
Ensembl Gene ENSMUSG00000061731
Encoded Proteins
IDBP-140306
exostoses (multiple) 1
IDBP-260686
exostoses (multiple) 1
IDBP-535144
exostoses (multiple) 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000182197:
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 15:53064038-53346159
Strand Reverse strand
Band C
Transcripts
ENSMUST00000077273 ENSMUSP00000076505
ENSMUST00000110244 ENSMUSP00000105873
ENSMUST00000133362 ENSMUSP00000117921
ENSMUST00000140798
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
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: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:0001503 ossification
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
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:0033692 cellular polysaccharide biosynthetic process
GO:0072498 embryonic skeletal joint development
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031227 intrinsic component of endoplasmic reticulum membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000182197
View Gene Order
ENSBTAG00000006209
Not yet available
Pathways
NETPATH
REACTOME
REACT_222247
Glycosaminoglycan metabolism pathway
REACT_189085
Disease pathway
REACT_211754
MPS IV - Morquio syndrome B pathway
REACT_225132
MPS IV - Morquio syndrome A pathway
REACT_218935
MPS IIIC - Sanfilippo syndrome C pathway
REACT_188937
Metabolism pathway
REACT_224474
MPS I - Hurler syndrome pathway
REACT_227993
MPS IIID - Sanfilippo syndrome D pathway
REACT_269282
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_270278
Diseases of glycosylation pathway
REACT_268957
Defective CHSY1 causes TPBS pathway
REACT_268952
Defective B3GAT3 causes JDSSDHD pathway
REACT_215504
MPS II - Hunter syndrome pathway
REACT_269263
Diseases associated with glycosaminoglycan metabolism pathway
REACT_198654
HS-GAG biosynthesis pathway
REACT_198651
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_219946
MPS IX - Natowicz syndrome pathway
REACT_203949
Glycogen storage diseases pathway
REACT_208416
MPS VII - Sly syndrome pathway
REACT_271176
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_269050
Defective CHST3 causes SEDCJD pathway
REACT_215179
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_268667
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_221180
MPS IIIB - Sanfilippo syndrome B pathway
REACT_221189
MPS IIIA - Sanfilippo syndrome A pathway
REACT_270086
Defective PAPSS2 causes SEMD-PA pathway
REACT_271374
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_217438
Mucopolysaccharidoses pathway
REACT_269577
Defective CHST6 causes MCDC1 pathway
REACT_203841
Myoclonic epilepsy of Lafora pathway
REACT_248571
Metabolism of carbohydrates pathway
REACT_270174
Defective EXT2 causes exostoses 2 pathway
REACT_269276
Defective SLC26A2 causes chondrodysplasias pathway
KEGG
mmu00534
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_121248
HS-GAG biosynthesis pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
REACT_269304
Defective EXT2 causes exostoses 2 pathway
REACT_269658
Defective CHST6 causes MCDC1 pathway
REACT_216637
MPS IIIA - Sanfilippo syndrome A pathway
REACT_271434
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_268431
Defective PAPSS2 causes SEMD-PA pathway
REACT_221274
Metabolism of carbohydrates pathway
REACT_205556
Glycosaminoglycan metabolism pathway
REACT_270533
Defective CHSY1 causes TPBS pathway
REACT_204212
MPS I - Hurler syndrome pathway
REACT_224609
MPS IIID - Sanfilippo syndrome D pathway
REACT_268552
Diseases associated with glycosaminoglycan metabolism pathway
REACT_226837
MPS IX - Natowicz syndrome pathway
REACT_219973
Myoclonic epilepsy of Lafora pathway
REACT_208504
MPS II - Hunter syndrome pathway
REACT_220414
MPS VII - Sly syndrome pathway
REACT_268766
Defective B3GAT3 causes JDSSDHD pathway
REACT_208051
Mucopolysaccharidoses pathway
REACT_268446
Diseases of glycosylation pathway
REACT_271537
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_220816
MPS IIIC - Sanfilippo syndrome C pathway
REACT_211129
Glycogen storage diseases pathway
REACT_212403
MPS IIIB - Sanfilippo syndrome B pathway
REACT_270161
Defective CHST3 causes SEDCJD pathway
REACT_219139
Metabolism pathway
REACT_269058
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_269825
Defective SLC26A2 causes chondrodysplasias pathway
REACT_270962
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_218915
MPS IV - Morquio syndrome A pathway
REACT_206992
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_217121
MPS IV - Morquio syndrome B pathway
REACT_215576
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_207087
Disease pathway
REACT_218445
HS-GAG biosynthesis pathway
KEGG
hsa00534
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.309395 Mm.458634
RefSeq NM_010162
OMIM
CCDS CCDS27466
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca