• Gene id: 80218

Gene Summary

• Gene Symbol: NAA50   Gene   UCSC   Ensembl
• Aliases: MAK3, NAT13, NAT13P, NAT5, NAT5P, SAN, hNaa50p
• Gene name: N-alpha-acetyltransferase 50, NatE catalytic subunit
• Alternate names: N-alpha-acetyltransferase 50, N-acetyltransferase 13 (GCN5-related), N-acetyltransferase 5, N-acetyltransferase san homolog, N-epsilon-acetyltransferase 50, natE catalytic subunit,
• Gene location: 3q13.31 (113746248: 113716457)     Exons: 5     NC_000003.12
• OMIM: 610834

Protein Summary

• Protein general information: Q9GZZ1  
  • Name: N alpha acetyltransferase 50 (hNaa50p) (EC 2.3.1.258) (N acetyltransferase 13) (N acetyltransferase 5) (hNAT5) (N acetyltransferase san homolog) (hSAN) (N epsilon acetyltransferase 50) (EC 2.3.1. ) (NatE catalytic subunit)
  • Length: 169  
  • Mass: 19398
• Sequence:

  MKGSRIELGDVTPHNIKQLKRLNQVIFPVSYNDKFYKDVLEVGELAKLAYFNDIAVGAVCCRVDHSQNQKRLYIM
  TLGCLAPYRRLGIGTKMLNHVLNICEKDGTFDNIYLHVQISNESAIDFYRKFGFEIIETKKNYYKRIEPADAHVL
  QKNLKVPSGQNADVQKTDN

• Structural information:
  • Protein Domains: (6..15-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR000182  
  • Prosite: PS51186
  • PDB: 2OB0 2PSW 3TFY 4X5K
  • PDBsum: 2OB0 2PSW 3TFY 4X5K
  • STRING: ENSP00000240922
• Other Databases: GeneCards:  NAA50  Malacards:  NAA50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006474	N-terminal protein amino acid acetylation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0031415	NatA complex	IBA	cellular component
GO:0016573	histone acetylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008080	N-acetyltransferase activity	IBA	molecular function
GO:0007064	mitotic sister chromatid cohesion	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0034087	establishment of mitotic sister chromatid cohesion	IDA	biological process
GO:0006474	N-terminal protein amino acid acetylation	IDA	biological process
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0006474	N-terminal protein amino acid acetylation	IDA	biological process
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0006474	N-terminal protein amino acid acetylation	IDA	biological process
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0071962	mitotic sister chromatid cohesion, centromeric	IDA	biological process
GO:0052858	peptidyl-lysine acetyltransferase activity	IDA	molecular function
GO:0010485	H4 histone acetyltransferase activity	IDA	molecular function
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006474	N-terminal protein amino acid acetylation	IMP	biological process
GO:0004596	peptide alpha-N-acetyltransferase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008080	N-acetyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031415	NatA complex	IDA	cellular component
GO:0043967	histone H4 acetylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
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)