Gene Gene information from NCBI Gene database.
Entrez ID 51126
Gene name N-alpha-acetyltransferase 20, NatB catalytic subunit
Gene symbol NAA20
Synonyms (NCBI Gene)
MRT73NAT3NAT3PNAT5NAT5PdJ1002M8.1
Chromosome 20
Chromosome location 20p11.23
Summary NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 200
miRNA miRNA information provided by mirtarbase database.
90
miRTarBase ID miRNA Experiments Reference
MIRT024560 hsa-miR-215-5p Microarray 19074876
MIRT026585 hsa-miR-192-5p Microarray 19074876
MIRT032114 hsa-let-7d-5p Sequencing 20371350
MIRT052094 hsa-let-7b-5p CLASH 23622248
MIRT472677 hsa-miR-4500 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IBA
GO:0005515 Function Protein binding IPI 18570629, 34230638
GO:0005634 Component Nucleus IDA 25732826
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 18570629, 25732826
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610833 15908 ENSG00000173418
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61599
Protein name N-alpha-acetyltransferase 20 (EC 2.3.1.254) (Methionine N-acetyltransferase) (N-acetyltransferase 5) (N-terminal acetyltransferase B complex catalytic subunit NAA20) (N-terminal acetyltransferase B complex catalytic subunit NAT5) (NatB complex subunit NAT
Protein function Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln (PubMed:34230638). Proteins with cell cycle functions are overrepresented in
PDB 6VP9 , 7STX , 8G0L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 9 128 Acetyltransferase (GNAT) family Family
Sequence
Sequence length 178
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Intellectual developmental disorder, autosomal recessive 73 Likely pathogenic; Pathogenic rs2146464332, rs768029717 RCV001822970
RCV001822971
★★★★☆
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
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
Carcinogenesis Carcinogenesis Pubtator 33219302 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33219302 Stimulate
★☆☆☆☆
Found in Text Mining only