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    NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 51126, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NAA20provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 20, NatB catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:15908
    See related
    Ensembl:ENSG00000173418 MIM:610833; AllianceGenome:HGNC:15908
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NAT3; NAT5; MRT73; NAT3P; NAT5P; dJ1002M8.1
    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 2009]
    Expression
    Ubiquitous expression in esophagus (RPKM 49.8), testis (RPKM 35.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA20 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20017290..20033655)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20071569..20087935)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (19997934..20014299)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene Ras and Rab interactor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19819023-19819524 Neighboring gene ribosomal protein L12 pseudogene 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19866384-19866884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19938653-19939384 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:19939385-19940116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19960987-19961488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19961489-19961988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:19973649-19974520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19998307-19998807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19999269-20000468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12709 Neighboring gene crooked neck pre-mRNA splicing factor 1 Neighboring gene uncharacterized LOC124904880 Neighboring gene cilia and flagella associated protein 61

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Naa20, the catalytic subunit of NatB complex, contributes to hepatocellular carcinoma by regulating the LKB1-AMPK-mTOR axis. Jung TY, et al. Exp Mol Med, 2020 Nov. PMID 33219302, Free PMC Article
    2. Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression. Starheim KK, et al. Biochem J, 2008 Oct 15. PMID 18570629
    3. Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. Morrison J, et al. Genet Med, 2021 Nov. PMID 34230638, Free PMC Article
    4. Phosphorylation of ARD1 by IKKbeta contributes to its destabilization and degradation. Kuo HP, et al. Biochem Biophys Res Commun, 2009 Nov 6. PMID 19716809, Free PMC Article
    5. Sequential CRISPR screening reveals partial NatB inhibition as a strategy to mitigate alpha-synuclein levels in human neurons. Santhosh Kumar S, et al. Sci Adv, 2024 Feb 9. PMID 38335281, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sequential CRISPR screening reveals partial NatB inhibition as a strategy to mitigate alpha-synuclein levels in human neurons.
      Title: Sequential CRISPR screening reveals partial NatB inhibition as a strategy to mitigate alpha-synuclein levels in human neurons.
    2. NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.
      Title: NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.
    3. Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
      Title: Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
    4. Naa20, the catalytic subunit of NatB complex, contributes to hepatocellular carcinoma by regulating the LKB1-AMPK-mTOR axis.
      Title: Naa20, the catalytic subunit of NatB complex, contributes to hepatocellular carcinoma by regulating the LKB1-AMPK-mTOR axis.
    5. Maturation of NAA20 Aminoterminal End Is Essential to Assemble NatB N-Terminal Acetyltransferase Complex.
      Title: Maturation of NAA20 Aminoterminal End Is Essential to Assemble NatB N-Terminal Acetyltransferase Complex.
    6. The human NatB complex composed of Naa20 (NAT3) and Naa25 (MDM20) N-terminally acetylates Met-Glu-, Met-Asp-, Met-Asn- and Met-Gln- N-termini, and is important for the structure and function of actomyosin fibers and for proper cellular migration.
      Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
    7. Human N-acetyltransferase complexe NatB consists of human N-acetyltransferase 3 and human MDM20. hNAT3 knockdown results in an increase in G(0)/G(1)-phase cells.
      Title: Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression.
    8. hNat3 (NAT5) is the catalytic subunit and hMdm20 the auxiliary subunit of the human NatB N-terminal acetyltransferase complex. This ribosome associated complex acetylates nascent Met-Asp/Glu- polypeptides.
      Title: Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal recessive 73
    MedGen: C5676902 OMIM: 619717 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptide alpha-N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-terminal peptidyl-aspartic acid acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-terminal peptidyl-glutamic acid acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-terminal peptidyl-glutamine acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-terminal protein amino acid acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of NatB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NatB complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-alpha-acetyltransferase 20
    Names
    N-acetyltransferase 3 homolog
    N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)
    N-acetyltransferase 5 (GCN5-related, putative)
    N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)
    N-terminal acetyltransferase B complex catalytic subunit NAA20
    N-terminal acetyltransferase B complex catalytic subunit NAT5
    N-terminal acetyltransferase complex ARD1 subunit
    methionine N-acetyltransferase
    natB catalytic subunit
    natB complex subunit NAT5
    NP_057184.1
    NP_852668.1
    NP_852669.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016100.5 → NP_057184.1  N-alpha-acetyltransferase 20 isoform a

      See identical proteins and their annotated locations for NP_057184.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL035454, BC008446, BU680824
      Consensus CDS
      CCDS13141.1
      UniProtKB/Swiss-Prot
      A6NHA3, B2R4G4, P61599, Q5TFT7, Q9D7H8, Q9H0Y4, Q9NQH6, Q9Y6D2
      Related
      ENSP00000335636.4, ENST00000334982.9
      Conserved Domains (1) summary
      COG0456
      Location:1 → 156
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    2. NM_181527.3 → NP_852668.1  N-alpha-acetyltransferase 20 isoform b

      See identical proteins and their annotated locations for NP_852668.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1, resulting in an isoform (b) which is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AL035454, AL049538, BU680824
      Consensus CDS
      CCDS42854.1
      UniProtKB/TrEMBL
      A8MZB2
      Related
      ENSP00000381603.2, ENST00000398602.2
      Conserved Domains (1) summary
      COG0456
      Location:13 → 144
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    3. NM_181528.3 → NP_852669.1  N-alpha-acetyltransferase 20 isoform c

      See identical proteins and their annotated locations for NP_852669.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, which causes a frameshift. The exon combination for the transcript is supported by full-length ESTs (BG548527.1 and CD641402.1). The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC008446, BG548527, BU680824, CA867744
      Consensus CDS
      CCDS13142.1
      UniProtKB/Swiss-Prot
      P61599
      Related
      ENSP00000311027.4, ENST00000310450.8
      Conserved Domains (1) summary
      COG0456
      Location:1 → 102
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      20017290..20033655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      20071569..20087935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61599.1 GenPept UniProtKB/Swiss-Prot:P61599

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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