• Gene id: 10020

Gene Summary

• Gene Symbol: GNE   Gene   UCSC   Ensembl
• Aliases: DMRV, GLCNE, IBM2, NM, Uae1
• Gene name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• Alternate names: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, N-acylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,
• Gene location: 9p13.3 (109619537: 109603090)     Exons: 9     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modi
• OMIM: 603824

Protein Summary

• Protein general information: Q9Y223  
  • Name: Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase (UDP GlcNAc 2 epimerase/ManAc kinase) [Includes: UDP N acetylglucosamine 2 epimerase (hydrolyzing) (EC 3.2.1.183) (UDP GlcNAc 2 epimerase) (Uridine diphosphate N acetylglucosamine
  • Length: 722  
  • Mass: 79275
  • 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. Isofo
• Sequence:

  MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINTRLHTI
  VRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHAI
  TKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTD
  IKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGN
  SSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLK
  SIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLIL
  QMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAE
  RKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREA
  KKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHY
  IHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY

• Structural information:
  • Interpro: IPR000600  IPR020004  IPR003331  
  • PDB: 2YHW 2YHY 2YI1 3EO3 4ZHT
  • PDBsum: 2YHW 2YHY 2YI1 3EO3 4ZHT
  • STRING: ENSP00000379839
• Other Databases: GeneCards:  GNE  Malacards:  GNE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009384	N-acylmannosamine kinase activity	IBA	molecular function
GO:0008761	UDP-N-acetylglucosamine 2-epimerase activity	IBA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0009384	N-acylmannosamine kinase activity	TAS	molecular function
GO:0008761	UDP-N-acetylglucosamine 2-epimerase activity	TAS	molecular function
GO:0007155	cell adhesion	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0006054	N-acetylneuraminate metabolic process	TAS	biological process
GO:0009384	N-acylmannosamine kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0006045	N-acetylglucosamine biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Distal myopathy	KEGG:H00594
Sialuria	KEGG:H00147
Nonaka distal myopathy	KEGG:H00596
Distal myopathy	KEGG:H00594
Sialuria	KEGG:H00147
Nonaka distal myopathy	KEGG:H00596
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq