InnateDB Protein
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IDBP-588970.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GNE
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Protein Name
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glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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Synonyms
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DMRV; GLCNE; IBM2; NM; Uae1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000445117
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InnateDB Gene
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IDBG-65042 (GNE)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000600
ROK
IPR001312
Hexokinase
IPR003331
UDP-N-acetylglucosamine 2-epimerase
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PFAM |
PF00480
PF02350
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PRINTS |
PR00475
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y223
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PhosphoSite |
PhosphoSite-Q9Y223
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10020
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UniGene |
Hs.692475
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RefSeq |
NP_001177313
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HUGO |
HGNC:23657
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OMIM |
603824
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CCDS |
CCDS55308
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HPRD |
04825
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IMGT |
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EMBL |
AF051852
AF155663
AF317635
AJ238764
AK295562
AK296687
AK312539
AL158830
AM697708
AM697709
BC121179
CH471071
EU093084
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GenPept |
AAD32251
AAD38197
AAG31661
AAI21180
ABU55403
BAG35438
BAH12108
BAH12414
CAB42607
CAM91424
CAM91425
EAW58307
EAW58309
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