Version 5.4
Homo sapiens Gene: EXTL1
Summary
InnateDB Gene IDBG-94455.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EXTL1
Gene Name exostoses (multiple)-like 1
Synonyms EXTL
Species Homo sapiens
Ensembl Gene ENSG00000158008
Encoded Proteins
IDBP-94457
exostoses (multiple)-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:26019884-26036464
Strand Forward strand
Band p36.11
Transcripts
ENST00000374280 ENSP00000363398
ENST00000481377
ENST00000484339
ENST00000470037
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016758 transferase activity, transferring hexosyl groups
GO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Biological Process
GO:0001501 skeletal system development
GO:0006486 protein glycosylation
Cellular Component
GO:0016021 integral component of membrane
GO:0031227 intrinsic component of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028838
View Gene Order
ENSBTAG00000006349
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00534
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q92935
TrEMBL
UniProt Splice Variant
Entrez Gene 2134
UniGene Hs.150956
RefSeq NM_004455 XM_006710447
HUGO HGNC:3515
OMIM 601738
CCDS CCDS271
HPRD
IMGT
EMBL AF083623 AF083624 AF083625 AF083626 AF083627 AF083628 AF083629 AF083630 AF083631 AF083632 AF083633 AF151391 AF153980 AL391650 BC065528 U67191
GenPept AAC51141 AAD02840 AAF73172 AAH65528 CAI17130
RNA Seq Atlas 2134

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