Homo sapiens Gene: GLCE
Summary
InnateDB Gene IDBG-19316.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLCE
Gene Name glucuronic acid epimerase
Synonyms HSEPI
Species Homo sapiens
Ensembl Gene ENSG00000138604
Encoded Proteins
glucuronic acid epimerase
glucuronic acid epimerase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Heparan sulfate (HS) is a negatively charged cell surface polysaccharide required for the biologic activities of circulating extracellular ligands. GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic acid (IdoA) of HS, which endows the nascent polysaccharide chain with the ability to bind growth factors and cytokines (Ghiselli and Agrawal, 2005 [PubMed 15853773]).[supplied by OMIM, Jun 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:69160584-69272217
Strand Forward strand
Band q23
Transcripts
ENST00000261858 ENSP00000261858
ENST00000559798
ENST00000559420 ENSP00000454092
ENST00000559500
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:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives
GO:0047464 heparosan-N-sulfate-glucuronate 5-epimerase activity
GO:0050379 UDP-glucuronate 5'-epimerase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030210 heparin biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
HS-GAG biosynthesis pathway
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
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 NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.183006
RefSeq NM_015554 XM_005254298 XM_005254299
HUGO
OMIM
CCDS CCDS32277
HPRD 07020
IMGT
EMBL
GenPept
RNA Seq Atlas