Homo sapiens Gene: GNE
Summary
InnateDB Gene IDBG-65042.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNE
Gene Name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms DMRV; GLCNE; IBM2; NM; Uae1;
Species Homo sapiens
Ensembl Gene ENSG00000159921
Encoded Proteins
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:36214441-36277056
Strand Reverse strand
Band p13.3
Transcripts
ENST00000377902 ENSP00000367134
ENST00000396594 ENSP00000379839
ENST00000447283 ENSP00000414760
ENST00000543356 ENSP00000437765
ENST00000539208 ENSP00000445117
ENST00000539815 ENSP00000439155
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008761 UDP-N-acetylglucosamine 2-epimerase activity
GO:0009384 N-acylmannosamine kinase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0006045 N-acetylglucosamine biosynthetic process
GO:0006047 UDP-N-acetylglucosamine metabolic process
GO:0006054 N-acetylneuraminate metabolic process
GO:0007155 cell adhesion
GO:0009103 lipopolysaccharide biosynthetic process
GO:0046380 N-acetylneuraminate biosynthetic process
GO:0046835 carbohydrate phosphorylation
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
Synthesis of substrates in N-glycan biosythesis pathway
Asparagine N-linked glycosylation pathway
Sialic acid metabolism pathway
Metabolism of proteins pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
KEGG
Amino sugar and nucleotide sugar metabolism pathway
INOH
Aminosugars metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Y223
TrEMBL
UniProt Splice Variant
Entrez Gene 10020
UniGene Hs.5920 Hs.692475
RefSeq NM_001128227 NM_001190383 NM_001190384 NM_001190388 NM_005476 XM_005251334
HUGO HGNC:23657
OMIM 603824
CCDS CCDS47965 CCDS55308 CCDS55309 CCDS55310 CCDS6602
HPRD
IMGT
EMBL AF051852 AF155663 AF317635 AJ238764 AK295562 AK296687 AK312539 AL158830 AM697708 AM697709 BC121179 CH471071 EU093084
GenPept AAD32251 AAD38197 AAG31661 AAI21180 ABU55403 BAG35438 BAH12108 BAH12414 CAB42607 CAM91424 CAM91425 EAW58307 EAW58309
RNA Seq Atlas 10020