InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNE

Summary

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}.

Comments

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: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