• Gene id: 64841

Gene Summary

• Gene Symbol: GNPNAT1   Gene   UCSC   Ensembl
• Aliases: GNA1, GNPNAT, Gpnat1
• Gene name: glucosamine-phosphate N-acetyltransferase 1
• Alternate names: glucosamine 6-phosphate N-acetyltransferase, phosphoglucosamine acetylase, phosphoglucosamine transacetylase,
• Gene location: 14q22.1 (52791606: 52775192)     Exons: 8     NC_000014.9
• OMIM: 602808

Protein Summary

• Protein general information: Q96EK6  
  • Name: Glucosamine 6 phosphate N acetyltransferase (EC 2.3.1.4) (Phosphoglucosamine acetylase) (Phosphoglucosamine transacetylase)
  • Length: 184  
  • Mass: 20749
• Sequence:

  MKPDETPMFDPSLLKEVDWSQNTATFSPAISPTHPGEGLVLRPLCTADLNRGFFKVLGQLTETGVVSPEQFMKSF
  EHMKKSGDYYVTVVEDVTLGQIVATATLIIEHKFIHSCAKRGRVEDVVVSDECRGKQLGKLLLSTLTLLSKKLNC
  YKITLECLPQNVGFYKKFGYTVSEENYMCRRFLK

• Structural information:
  • Protein Domains: (39..18-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR000182  IPR039143  
  • Prosite: PS51186
  • PDB: 2HUZ 2O28 3CXP 3CXQ 3CXS
  • PDBsum: 2HUZ 2O28 3CXP 3CXQ 3CXS
  • STRING: ENSP00000216410
• Other Databases: GeneCards:  GNPNAT1  Malacards:  GNPNAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008080	N-acetyltransferase activity	IBA	molecular function
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004343	glucosamine 6-phosphate N-acetyltransferase activity	IBA	molecular function
GO:0048029	monosaccharide binding	IBA	molecular function
GO:0004343	glucosamine 6-phosphate N-acetyltransferase activity	IEA	molecular function
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0008080	N-acetyltransferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004343	glucosamine 6-phosphate N-acetyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048029	monosaccharide binding	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005770	late endosome	IEA	cellular component
GO:0006044	N-acetylglucosamine metabolic process	IEA	biological process
GO:0006041	glucosamine metabolic process	IEA	biological process
GO:0004343	glucosamine 6-phosphate N-acetyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0004343	glucosamine 6-phosphate N-acetyltransferase activity	IEA	molecular function
GO:0010008	endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006048	UDP-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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881