Gene Gene information from NCBI Gene database.
Entrez ID 122830
Gene name N-alpha-acetyltransferase 30, NatC catalytic subunit
Gene symbol NAA30
Synonyms (NCBI Gene)
C14orf35MAK3Mak3pNAT12NAT12P
Chromosome 14
Chromosome location 14q22.3
miRNA miRNA information provided by mirtarbase database.
509
miRTarBase ID miRNA Experiments Reference
MIRT016215 hsa-miR-590-3p Sequencing 20371350
MIRT020205 hsa-miR-130b-3p Sequencing 20371350
MIRT028034 hsa-miR-93-5p Sequencing 20371350
MIRT030842 hsa-miR-21-5p Microarray 18591254
MIRT047159 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IBA
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IDA 19398576, 37891180
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IEA
GO:0005515 Function Protein binding IPI 19398576, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617989 19844 ENSG00000139977
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q147X3
Protein name N-alpha-acetyltransferase 30 (EC 2.3.1.256) (N-acetyltransferase 12) (N-acetyltransferase MAK3 homolog) (NatC catalytic subunit)
Protein function Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex (PubMed:19398576, PubMed:37891180). Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly (PubMed:19398576, PubMe
PDB 7MX2 , 7RB3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 224 338 Acetyltransferase (GNAT) family Family
Sequence
MAEVPPGPSSLLPPPAPPAPAAVEPRCPFPAGAALACCSEDEEDDEEHEGGGSRSPAGGE
SATVAAKGHPCLRCPQPPQEQQQLNGLISPELRHLRAAASLKSKVLSVAEVAATTATPDG
GPRATATKGAGVHSGERPPHSLSSNARTAVPSPVEAAAASDPAAARNGLAEGTEQEEEEE
DEQVRLLSSSLTADCSLRSPSGREVEPGEDRTIRYVRYESELQMPDIMRLITKDLSEPYS
IYTYRYFIHNWPQLCFLAMVGEECVGAIVCKLDMHKKMFRRGYIAMLAVDSKYRRNGIGT
NLVKKAIYAMVEGDCDEVVLETEITNKSALKLYENLGF
VRDKRLFRYYLNGVDALRLKLW
LR
Sequence length 362
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Lethal multiystemic syndrome Likely pathogenic rs2139756536 RCV001376128
★★★★☆
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 Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Glioblastoma Glioblastoma BEFREE 26292663
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 26292663
★☆☆☆☆
Found in Text Mining only