glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Summary
Gene Symbol
  • GNE
Aliases
  • Uae1
  • bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Organism
Homo sapiens (human)
External Links
NCBI Gene
10020
HGNC
23657
KEGG Gene ID
hsa:10020
PubChem
10020
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Allosteric enzyme
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Hydrolase
  • Kinase
  • Metal-binding
  • Multifunctional enzyme
  • Phosphoprotein
  • Reference proteome
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y223
  • UDP-GlcNAc-2-epimerase/ManAc kinase
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
GO Hierarchy
Human Protein Atlas
ENSG00000159921

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12409
Name
bifunctional UDP-N-acetylglucosamine 2-epimerase / N-acetylmannosamine kinase [EC:3.2.1.183 2.7.1.60]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 116 in total
DO ID Disease Name Source
DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C
DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D
DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E
DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F
DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G
DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H
DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J
DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L
DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q
DOID:0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
The Human Phenotype Ontology
Displaying entries 1 - 10 of 89 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000158 Macroglossia
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000316 Hypertelorism
Displaying all 4 entries
Disease ID Disease Name
ORPHA:3166
  • sialuria
ORPHA:602
  • GNE myopathy
OMIM:269921
  • sialuria
OMIM:605820
  • GNE myopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024