Homo sapiens Protein: GNE
InnateDB Protein IDBP-369156.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNE
Protein Name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms DMRV; GLCNE; IBM2; NM; Uae1;
Species Homo sapiens
Ensembl Protein ENSP00000414760
InnateDB Gene IDBG-65042 (GNE)
Protein Structure
UniProt Annotation
Function Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. {ECO:0000250, ECO:0000269PubMed:10334995}.
Subcellular Localization Cytoplasm {ECO:0000250}.
Disease Associations Sialuria (SIALURIA) [MIM:269921]: In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. {ECO:0000269PubMed:10330343, ECO:0000269PubMed:10356312, ECO:0000269PubMed:2808337}. Note=The disease is caused by mutations affecting the gene represented in this entry.Inclusion body myopathy 2 (IBM2) [MIM:600737]: Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. {ECO:0000269PubMed:11528398, ECO:0000269PubMed:12409274, ECO:0000269PubMed:12473769, ECO:0000269PubMed:12473780, ECO:0000269PubMed:12497639, ECO:0000269PubMed:12811782, ECO:0000269PubMed:15146476}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nonaka myopathy (NM) [MIM:605820]: Autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. {ECO:0000269PubMed:11916006, ECO:0000269PubMed:12177386, ECO:0000269PubMed:12325084, ECO:0000269PubMed:12473753, ECO:0000269PubMed:12913203}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. {ECO:0000269PubMed:10330343, ECO:0000269PubMed:10431835, ECO:0000269PubMed:17597614}.
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
Gene Ontology

Molecular Function
Accession GO Term
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005524 ATP binding
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
Protein Structure and Domains
InterPro IPR000600 ROK
IPR003331 UDP-N-acetylglucosamine 2-epimerase
IPR020004 UDP-N-acetylglucosamine 2-epimerase,UDP-hydrolysing
PFAM PF00480
Post-translational Modifications
SwissProt Q9Y223
PhosphoSite PhosphoSite-Q9Y223
UniProt Splice Variant
Entrez Gene 10020
UniGene Hs.692475
RefSeq NP_001177312
OMIM 603824
HPRD 04825
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