NAA80 (N-alpha-acetyltransferase 80, NatH catalytic subunit)

Gene

• Entrez ID: 24142
• Gene name: N-alpha-acetyltransferase 80, NatH catalytic subunit
• Gene symbol: NAA80
• Synonyms (NCBI Gene): ANDS, FUS-2, FUS2, HsNAAA80, NAT6
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004596	Function	Protein-N-terminal amino-acid acetyltransferase activity	IBA
GO:0004596	Function	Protein-N-terminal amino-acid acetyltransferase activity	IDA	29581253, 29581307, 30028079
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10644992
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	29581253
GO:0005829	Component	Cytosol	IEA
GO:0006473	Process	Protein acetylation	IDA	10644992
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IBA
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IMP	29581253
GO:0008080	Function	N-acetyltransferase activity	IDA	10644992
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0017190	Process	N-terminal peptidyl-aspartic acid acetylation	IDA	29581253, 29581307, 30028079
GO:0018002	Process	N-terminal peptidyl-glutamic acid acetylation	IDA	29581253, 29581307, 30028079
GO:0030047	Process	Actin modification	IDA	29581253, 29581307, 30028079
GO:1905502	Function	Acetyl-CoA binding	IBA
GO:1905502	Function	Acetyl-CoA binding	IDA	10644992

Other IDs

• MIM: 607073
• HGNC: 30252
• e!Ensembl: ENSG00000243477

Protein

• UniProt ID: Q93015
• Protein name: N-alpha-acetyltransferase 80 (HsNAAA80) (EC 2.3.1.-) (N-acetyltransferase 6) (Protein fusion-2) (Protein fus-2)
• Protein function: N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively) (PubMed:29581253, PubMed:30028079). N-terminal acetylation of processed b
• PDB: 6NAS, 6NBE, 6NBW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00583	Acetyltransf_1	72 → 188	Acetyltransferase (GNAT) family	Family

• Tissue specificity: 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:0000269|PubMed:11085536}.
• Sequence:

  MELILSTSPAELTLDPACQPKLPLDSTCQPEMTFNPGPTELTLDPEHQPEETPAPSLAEL
  TLEPVHRRPELLDACADLINDQWPRSRTSRLHSLGQSSDAFPLCLMLLSPHPTLEAAPVV
  VGHARLSRVLNQPQSLLVETVVVARALRGRGFGRRLMEGLEVFARARGFRKLHLTTHDQV
  HFYTHLGYQLGEPVQGLVFTSRRLPATLLNAFPTAPSPRPPRKAPNLTAQAAPRGPKGPP
  LPPPPPLPECLTISPPVPSGPPSKSLLETQYQNVRGRPIFWMEKDI

• Sequence length: 286

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Auroneurodental syndrome	Likely pathogenic; Pathogenic	rs2109291659	RCV004577921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	15036368		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	15036368		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15036368		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15036368		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15036368		★☆☆☆☆ Found in Text Mining only