NAA20 (N-alpha-acetyltransferase 20, NatB catalytic subunit)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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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.
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MIM HGNC e!Ensembl
610833 15908 ENSG00000173418
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.
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 
MTTLRAFTCDDLFRFNNINLDPLTETYGIPFYLQYLAHWPEYFIVAEAPGGELMGYIMGK
AEGSVAREEWHGHVTALSVAPEFRRLGLAAKLMELLEEISERKGGFFVDLFVRVSNQVAV
NMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALSRDTEKKSIIPLPHPVRPEDIE
Sequence length 178
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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
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 Reference Evidence Score
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY — Disgenet, Orphanet
Disgenet, Orphanet 		34230638
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
syndromic intellectual disability — ClinGen ClinGen report
★★★★★
★★☆☆☆
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
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NSUN2 2 shared diseasesNonsyndromic intellectual disability, syndromic intellectual disability 5 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), Orphanet (Nonsyndromic intellectual disability), ClinVar (Intellectual developmental disorder), HPO (Intellectual developmental disorder), ClinGen (syndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, syndromic intellectual disability — evidence mostly Disgenet. MED23 2 shared diseasesNonsyndromic intellectual disability, syndromic intellectual disability 6 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), Orphanet (Nonsyndromic intellectual disability), ClinVar (Intellectual developmental disorder), GWAS catalog (Intellectual developmental disorder), HPO (Intellectual developmental disorder), ClinGen (syndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, syndromic intellectual disability — evidence mostly Disgenet. TAOK1 2 shared diseasesNonsyndromic intellectual disability, syndromic intellectual disability 3 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), Orphanet (Nonsyndromic intellectual disability), ClinGen (syndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, syndromic intellectual disability — evidence mostly Disgenet. CRADD 2 shared diseasesNonsyndromic intellectual disability, syndromic intellectual disability 6 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), Orphanet (Nonsyndromic intellectual disability), ClinVar (Intellectual developmental disorder), GWAS catalog (Intellectual developmental disorder), HPO (Intellectual developmental disorder), ClinGen (syndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, syndromic intellectual disability — evidence mostly Disgenet. PPM1D 2 shared diseasesNonsyndromic intellectual disability, syndromic intellectual disability 2 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), ClinGen (syndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, syndromic intellectual disability — evidence mostly Disgenet.
Neurodevelopmental disorder Linked via 3 of 5 related genesMED23, TAOK1, PPM1D Hypertension Linked via 2 of 5 related genesNSUN2, CRADD Diabetes mellitus type 2 Linked via 2 of 5 related genesMED23, CRADD Global developmental delay Linked via 2 of 5 related genesTAOK1, CRADD Autism Linked via 1 of 5 related genesNSUN2