NAA60 (N-alpha-acetyltransferase 60, NatF catalytic subunit)

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Gene Gene information from NCBI Gene database.
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Entrez ID 79903
Gene name N-alpha-acetyltransferase 60, NatF catalytic subunit
Gene symbol NAA60
Synonyms (NCBI Gene)
HAT4IBGC9NAT15NatFhNaa60
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternat
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT051437 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 21981917, 25732826
GO:0000139 Component Golgi membrane IEA
GO:0004402 Function Histone acetyltransferase activity IBA
GO:0004402 Function Histone acetyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
614246 25875 ENSG00000122390
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H7X0
Protein name N-alpha-acetyltransferase 60 (hNaa60) (EC 2.3.1.259) (Histone acetyltransferase type B protein 4) (HAT4) (EC 2.3.1.48) (N-acetyltransferase 15) (N-alpha-acetyltransferase F) (NatF)
Protein function N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol (PubMed:25732826, PubMed:38480682). Displays N-terminal acetyltr
PDB 5HGZ , 5HH0 , 5HH1 , 5ICV , 5ICW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 23 → 155 Acetyltransferase (GNAT) family Family
Sequence 
MTEVVPSSALSEVSLRLLCHDDIDTVKHLCGDWFPIEYPDSWYRDITSNKKFFSLAATYR
GAIVGMIVAEIKNRTKIHKEDGDILASNFSVDTQVAYILSLGVVKEFRKHGIGSLLLESL
KDHISTTAQDHCKAIYLHVLTTNNTAINFYENRDFKQHHYLPYYYSIRGVLKDGFTYVLY
INGGHPPWTILDYIQHLGSALASLSPCSIPHRVYRQAHSLLCSFLPWSGISSKSGIEYSR
TM
Sequence length 242
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Basal ganglia calcification, idiopathic, 9, autosomal recessive Pathogenic rs751041684, rs2543852689, rs530032228, rs748506439, rs756008307, rs767025617 RCV004372005
RCV004372006
RCV004372007
RCV004372008
RCV004372009
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
BILATERAL STRIOPALLIDODENTATE CALCINOSIS — Orphanet 38480682
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAHR'S DISEASE — CTD —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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CMPK2 2 shared diseasesIdiopathic basal ganglia calcification, Primary familial brain calcification 5 shared evidence sourcesHPO (Idiopathic basal ganglia calcification), GenCC (Idiopathic basal ganglia calcification), ClinVar (Idiopathic basal ganglia calcification), Disgenet (Idiopathic basal ganglia calcification), Orphanet (Primary familial brain calcification) Related via 2 shared diseases including Idiopathic basal ganglia calcification, Primary familial brain calcification — evidence mostly HPO. JAM2 3 shared diseasesIdiopathic basal ganglia calcification, Primary familial brain calcification, Fahr's disease 6 shared evidence sourcesHPO (Idiopathic basal ganglia calcification), GenCC (Idiopathic basal ganglia calcification), ClinVar (Idiopathic basal ganglia calcification), Disgenet (Idiopathic basal ganglia calcification), Orphanet (Primary familial brain calcification), CTD (Fahr's disease) Related via 3 shared diseases including Idiopathic basal ganglia calcification, Primary familial brain calcification — evidence mostly HPO. XPR1 3 shared diseasesIdiopathic basal ganglia calcification, Primary familial brain calcification, Fahr's disease 6 shared evidence sourcesHPO (Idiopathic basal ganglia calcification), GenCC (Idiopathic basal ganglia calcification), ClinVar (Idiopathic basal ganglia calcification), Disgenet (Idiopathic basal ganglia calcification), Orphanet (Primary familial brain calcification), CTD (Fahr's disease) Related via 3 shared diseases including Idiopathic basal ganglia calcification, Primary familial brain calcification — evidence mostly HPO. MYORG 3 shared diseasesIdiopathic basal ganglia calcification, Primary familial brain calcification, Fahr's disease 5 shared evidence sourcesHPO (Idiopathic basal ganglia calcification), ClinVar (Idiopathic basal ganglia calcification), Disgenet (Idiopathic basal ganglia calcification), Orphanet (Primary familial brain calcification), CTD (Fahr's disease) Related via 3 shared diseases including Idiopathic basal ganglia calcification, Primary familial brain calcification — evidence mostly HPO. SLC20A2 3 shared diseasesIdiopathic basal ganglia calcification, Primary familial brain calcification, Fahr's disease 6 shared evidence sourcesHPO (Idiopathic basal ganglia calcification), GenCC (Idiopathic basal ganglia calcification), ClinVar (Idiopathic basal ganglia calcification), Disgenet (Idiopathic basal ganglia calcification), Orphanet (Primary familial brain calcification), CTD (Fahr's disease) Related via 3 shared diseases including Idiopathic basal ganglia calcification, Primary familial brain calcification — evidence mostly HPO.
Basal ganglia disease Linked via 2 of 5 related genesXPR1, SLC20A2 Calcinosis Linked via 2 of 5 related genesXPR1, SLC20A2 Gout Linked via 2 of 5 related genesMYORG, SLC20A2 Autism Linked via 1 of 5 related genesJAM2 Duchenne muscular dystrophy Linked via 1 of 5 related genesJAM2