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

Gene ID: 8260, updated on 17-Mar-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
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Genomic context

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Location:
Xq28
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153929225..153935037, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152202942..152208754, complement)
105.20220307 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. NAA10 overexpression dictates distinct epigenetic, genetic, and clinicopathological characteristics in adult gliomas. Le MK, et al. J Neuropathol Exp Neurol, 2023 Jun 20. PMID 37253389
  2. Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome. Sandomirsky K, et al. Am J Med Genet A, 2023 May. PMID 36810866,
  3. N-α-Acetyltransferase 10 inhibits invasion and metastasis of oral squamous cell carcinoma via regulating Pirh2-p53 signalling pathway. Wang F, et al. J Cell Mol Med, 2022 May. PMID 35366056, Free PMC Article
  4. 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
  5. 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

See all (161) 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
Compare labs
Ogden syndrome
MedGen: C3275447 OMIM: 300855 GeneReviews: Not available
Compare labs

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)

Genotypes

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-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_2023_10

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

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