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    NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 8260, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NAA10provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 10, NatA catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:18704
    See related
    Ensembl:ENSG00000102030 MIM:300013; AllianceGenome:HGNC:18704
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAA; TE2; ARD1; LZMS; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1
    Summary
    N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in fat (RPKM 16.8), appendix (RPKM 16.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA10 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153929225..153935037, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152202942..152208754, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153194678..153200490, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene arginine vasopressin receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene Rho GTPase activating protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153200750-153201255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153201256-153201760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153204898-153205662 Neighboring gene renin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153210247-153211010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153213176-153213715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30044 Neighboring gene host cell factor C1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231131-153231789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231790-153232449 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153234675-153234853 Neighboring gene HCFC1 antisense RNA 1

    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. The biological functions of Naa10 - From amino-terminal acetylation to human disease. Dörfel MJ, et al. Gene, 2015 Aug 10. PMID 25987439, Free PMC Article
    2. Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation. McTiernan N, et al. Hum Genet, 2022 Aug. PMID 35039925, Free PMC Article
    3. Hydroxylation of the Acetyltransferase NAA10 Trp38 Is Not an Enzyme-Switch in Human Cells. Ree R, et al. Int J Mol Sci, 2021 Oct 30. PMID 34769235, Free PMC Article
    4. Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. Gogoll L, et al. Am J Med Genet A, 2021 Aug. PMID 34075687, Free PMC Article
    5. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. Esmailpour T, et al. J Med Genet, 2014 Mar. PMID 24431331, Free PMC Article

    See all (175) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NAA10 gene expression is associated with mesenchymal transition, dedifferentiation, and progression of clear cell renal cell carcinoma.
      Title: NAA10 gene expression is associated with mesenchymal transition, dedifferentiation, and progression of clear cell renal cell carcinoma.
    2. Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells.
      Title: Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells.
    3. Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
      Title: Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
    4. NAA10 overexpression dictates distinct epigenetic, genetic, and clinicopathological characteristics in adult gliomas.
      Title: NAA10 overexpression dictates distinct epigenetic, genetic, and clinicopathological characteristics in adult gliomas.
    5. Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
      Title: Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
    6. ARD1 stabilizes NRF2 through direct interaction and promotes colon cancer progression.
      Title: ARD1 stabilizes NRF2 through direct interaction and promotes colon cancer progression.
    7. Naa10p promotes cell invasiveness of esophageal cancer by coordinating the c-Myc and PAI1 regulatory axis.
      Title: Naa10p promotes cell invasiveness of esophageal cancer by coordinating the c-Myc and PAI1 regulatory axis.
    8. Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
      Title: Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
    9. N-alpha-Acetyltransferase 10 inhibits invasion and metastasis of oral squamous cell carcinoma via regulating Pirh2-p53 signalling pathway.
      Title: N-α-Acetyltransferase 10 inhibits invasion and metastasis of oral squamous cell carcinoma via regulating Pirh2-p53 signalling pathway.
    10. Naa10p and IKKalpha interaction regulates EMT in oral squamous cell carcinoma via TGF-beta1/Smad pathway.
      Title: Naa10p and IKKα interaction regulates EMT in oral squamous cell carcinoma via TGF-β1/Smad pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (89)

    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
    Microphthalmia, syndromic 1
    MedGen: C0796016 OMIM: 309800 GeneReviews: Not available
    		not available
    Ogden syndrome
    MedGen: C3275447 OMIM: 300855 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-08-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-08-09)

    ClinGen Genome Curation PagePubMed

    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

    Clone Names

    • FLJ78896, MGC71248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    contributes_to acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to peptide alpha-N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide alpha-N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-alanine-alpha-N-acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide-glutamate-alpha-N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide-serine-alpha-N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-terminal protein amino acid acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromosome organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in internal protein amino acid acetylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NatA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NatA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NatA complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleolus 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 10
    Names
    ARD1 homolog A, N-acetyltransferase
    N-acetyltransferase ARD1, human homolog of
    N-terminal acetyltransferase complex ARD1 subunit homolog A
    arrest defective protein 1
    microphthalmia or anophthalmia and associated anomalies
    natA catalytic subunit Naa10
    NP_001243048.1
    NP_001243049.1
    NP_003482.1

    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.

    Genomic

    1. NG_031987.2 RefSeqGene

      Range
      5000..10812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256119.2 → NP_001243048.1  N-alpha-acetyltransferase 10 isoform 2

      See identical proteins and their annotated locations for NP_001243048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AY183135, CA313208, CR979270, U52112
      Consensus CDS
      CCDS59179.1
      UniProtKB/Swiss-Prot
      P41227
      Related
      ENSP00000359026.1, ENST00000370009.5
      Conserved Domains (1) summary
      COG0456
      Location:1 → 134
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    2. NM_001256120.2 → NP_001243049.1  N-alpha-acetyltransferase 10 isoform 3

      See identical proteins and their annotated locations for NP_001243049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AK315997, AY183135, BI192945, CA313208, CR979270, U52112
      UniProtKB/TrEMBL
      B7Z9N2
      Conserved Domains (1) summary
      COG0456
      Location:1 → 143
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    3. NM_003491.4 → NP_003482.1  N-alpha-acetyltransferase 10 isoform 1

      See identical proteins and their annotated locations for NP_003482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC000308, CA313208, CR979270, U52112
      Consensus CDS
      CCDS14737.1
      UniProtKB/Swiss-Prot
      A6NM98, P41227
      Related
      ENSP00000417763.1, ENST00000464845.6
      Conserved Domains (1) summary
      COG0456
      Location:1 → 149
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153929225..153935037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152202942..152208754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41227.1 GenPept UniProtKB/Swiss-Prot:P41227

    Gene LinkOut

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

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