Version 5.4
Homo sapiens Gene: EXTL3
Summary
InnateDB Gene IDBG-15321.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EXTL3
Gene Name exostoses (multiple)-like 3
Synonyms BOTV; EXTL1L; EXTR1; REGR; RPR
Species Homo sapiens
Ensembl Gene ENSG00000012232
Encoded Proteins
IDBP-15323
exostoses (multiple)-like 3
IDBP-474027
exostoses (multiple)-like 3
IDBP-480809
exostoses (multiple)-like 3
IDBP-482842
exostoses (multiple)-like 3
IDBP-479412
exostoses (multiple)-like 3
IDBP-474992
exostoses (multiple)-like 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:28600469-28755599
Strand Forward strand
Band p21.1
Transcripts
ENST00000220562 ENSP00000220562
ENST00000454906
ENST00000522725
ENST00000523149 ENSP00000428691
ENST00000519288
ENST00000520940
ENST00000519886
ENST00000518223
ENST00000521532 ENSP00000431013
ENST00000522698 ENSP00000428352
ENST00000521473 ENSP00000429627
ENST00000517738 ENSP00000430652
ENST00000523271
ENST00000520679
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0016758 transferase activity, transferring hexosyl groups
GO:0046872 metal ion binding
Biological Process
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030307 positive regulation of cell growth
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0031227 intrinsic component of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021978
View Gene Order
ENSBTAG00000008844
Not yet available
Pathways
NETPATH
REACTOME
REACT_18273
XBP1(S) activates chaperone genes pathway
REACT_18368
IRE1alpha activates chaperones pathway
REACT_18356
Unfolded Protein Response (UPR) pathway
REACT_17015
Metabolism of proteins pathway
KEGG
hsa00534
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.491354 Hs.713320
RefSeq NM_001440 XM_006716302
HUGO
OMIM
CCDS CCDS6070
HPRD 09306
IMGT
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