• Gene id: 24142

Gene Summary

• Gene Symbol: NAA80   Gene   UCSC   Ensembl
• Aliases: FUS-2, FUS2, HsNAAA80, NAT6
• Gene name: N-alpha-acetyltransferase 80, NatH catalytic subunit
• Alternate names: N-alpha-acetyltransferase 80, N-acetyltransferase 6 (GCN5-related), protein fusion-2,
• Gene location: 3p21.31 (50299404: 50296401)     Exons: 3     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substr
• OMIM: 607073

Protein Summary

• Protein general information: Q93015  
  • Name: N alpha acetyltransferase 80 (HsNAAA80) (EC 2.3.1. ) (N acetyltransferase 6) (Protein fusion 2) (Protein fus 2)
  • Length: 286  
  • Mass: 31445
  • Tissue specificity: Strongly expressed in heart and skeletal muscle, followed by brain and pancreas, with weak expression in kidney, liver, and lung and no expression in placenta. {ECO
• Sequence:

  MELILSTSPAELTLDPACQPKLPLDSTCQPEMTFNPGPTELTLDPEHQPEETPAPSLAELTLEPVHRRPELLDAC
  ADLINDQWPRSRTSRLHSLGQSSDAFPLCLMLLSPHPTLEAAPVVVGHARLSRVLNQPQSLLVETVVVARALRGR
  GFGRRLMEGLEVFARARGFRKLHLTTHDQVHFYTHLGYQLGEPVQGLVFTSRRLPATLLNAFPTAPSPRPPRKAP
  NLTAQAAPRGPKGPPLPPPPPLPECLTISPPVPSGPPSKSLLETQYQNVRGRPIFWMEKDI

• Structural information:
  • Protein Domains: (60..20-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR000182  IPR039840  
  • Prosite: PS51186
  • STRING: ENSP00000346927
• Other Databases: GeneCards:  NAA80  Malacards:  NAA80

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008080	N-acetyltransferase activity	IBA	molecular function
GO:0006473	protein acetylation	IBA	biological process
GO:1905502	acetyl-CoA binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0004596	peptide alpha-N-acetyltransferase activity	IDA	molecular function
GO:0030047	actin modification	IDA	biological process
GO:0017190	N-terminal peptidyl-aspartic acid acetylation	IDA	biological process
GO:0018002	N-terminal peptidyl-glutamic acid acetylation	IDA	biological process
GO:0030047	actin modification	IDA	biological process
GO:0017190	N-terminal peptidyl-aspartic acid acetylation	IDA	biological process
GO:0018002	N-terminal peptidyl-glutamic acid acetylation	IDA	biological process
GO:0030047	actin modification	IDA	biological process
GO:0017190	N-terminal peptidyl-aspartic acid acetylation	IDA	biological process
GO:0018002	N-terminal peptidyl-glutamic acid acetylation	IDA	biological process
GO:0008064	regulation of actin polymerization or depolymerization	IMP	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:1905502	acetyl-CoA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0006473	protein acetylation	IDA	biological process
GO:0008080	N-acetyltransferase activity	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R