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FLASH GENE

Symbol

GNE

contributors: mct/npt - updated : 25-03-2013

HGNC name	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HGNC id	23657

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DMRV myopathy, distal, with rimmed vacuoles IBM2 inclusion body myopathy 2 SIAFT sialuria, French type
Location	9p13.3      Physical location : 36.214.440 - 36.277.053
Synonym name	UDP-GlcNAc-2-epimerase/ManAc kinase
	N-acylmannosamine kinase
Synonym symbol(s)	GLCNE, NM, DMRV, IBM2, Uae1
EC.number	2.7.1.60, 5.1.3.14

DNA

TYPE	like-sequence
STRUCTURE	62.62 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D9S929 - D9S1794 - GNE - D9S1209 - D9S1221 - cen

regionally located

78kb telomeric to RNF38

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001128227 12 - 5313 NP_001121699 - 753 - 2009 18815882 GNE2 a 31 AA N-terminal extension compared to GNE1 displayed selective reduction of UDP-GlcNAc 2-epimerase activity by the loss of its tetrameric state, which is essential for full enzyme activity role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway NM_005476 12 - 5329 NP_005467 - 722 - 2009 18815882 GNE1 role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway NM_001190388 11 - 5107 NP_001177317 - 717 - 2009 18815882 GNE3 a 55-AA N-terminal deletion and a 50-AA N-terminal extension compared to GNE1 epimerase enzymatic activity of GNE3 and GNE8 is likely absent, because the deleted fragment contains important substrate binding residues in homologous bacterial epimerases role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway NM_001190384 10 - 4970 NP_001177313 - 612 - 2009 18815882 NM_001190383 11 - 5107 NP_001177312 - 648 - 2009 18815882

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Reproductive female system breast mammary gland       female system uterus cervix     Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	two functional domains
	an epimerase domain
	a kinase domain (Eisenberg 2008)

HOMOLOGY

interspecies

homolog to murine Uac1

Homologene

FAMILY

ROK family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	key enzyme of sialic acid biosynthesis
	biosynthesis of N-acetylneuraminic acid catalyzing the first step rate limiting in sialic acid biosynthesis
	bi-functional enzyme acting in the biosynthetic pathway of sialic acid
	a bifunctional enzyme which catalyzes the two key sequential steps in the biosynthetic pathway of sialic acid, the most abundant terminal monosaccharide on glycoconjugates of eukaryotic cells
	plays an important role in neuronal cell and brain development, and is strongly involved in cardiac tissue and skeletal muscle early survival and organization
	catalyzes the first two committed steps in sialic acid synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with CRMP1 and ZBTB16

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IBM2 , DMRV , SIAFT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function occurred predominantly in pancreatic cancer but also in other malignancies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS