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    NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 122830, updated on 9-Dec-2024

    Summary

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    Official Symbol
    NAA30provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 30, NatC catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:19844
    See related
    Ensembl:ENSG00000139977 MIM:617989; AllianceGenome:HGNC:19844
    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
    MAK3; Mak3p; NAT12; NAT12P; C14orf35
    Summary
    Enables peptide alpha-N-acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.4), brain (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA30 in Genome Data Viewer
    Location:
    14q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (57390586..57415906)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (51597048..51622359)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (57857304..57882624)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57735423-57736006 Neighboring gene exocyst complex component 5 Neighboring gene adaptor related protein complex 5 subunit mu 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57810066-57810610 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:57831098-57831989 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:57849692-57850526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:57857288-57858283 Neighboring gene uncharacterized LOC105370519 Neighboring gene coiled-coil domain containing 198 Neighboring gene uncharacterized LOC105370518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:58047958-58049157 Neighboring gene solute carrier family 35 member F4

    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. A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining Mitochondrial Integrity. Van Damme P, et al. Mol Cell Proteomics, 2016 Nov. PMID 27694331, Free PMC Article
    2. Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30. Varland S, et al. Gene, 2018 Feb 20. PMID 29247799
    3. Depletion of the human N-terminal acetyltransferase hNaa30 disrupts Golgi integrity and ARFRP1 localization. Starheim KK, et al. Biosci Rep, 2017 Apr 30. PMID 28356483, Free PMC Article
    4. Knockdown of NAT12/NAA30 reduces tumorigenic features of glioblastoma-initiating cells. Mughal AA, et al. Mol Cancer, 2015 Aug 21. PMID 26292663, Free PMC Article
    5. N-terminal acetylation shields proteins from degradation and promotes age-dependent motility and longevity. Varland S, et al. Nat Commun, 2023 Oct 27. PMID 37891180, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARFRP1 shifted from a predominantly cis-Golgi and endosome-to-trans-Golgi network localization to localizing both Golgi and non-Golgi vesicular structures in hNaa30-depleted cells.
      Title: Depletion of the human N-terminal acetyltransferase hNaa30 disrupts Golgi integrity and ARFRP1 localization.
    2. Overexpression of full-length Naa30 increased cell viability.
      Title: Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30.
    3. Data show that the human NatC complex Nt-acetylates a broad range of cellular proteins, and that depletion of the catalytic subunit Naa30 affects mitochondrial morphology and function.
      Title: A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining Mitochondrial Integrity.
    4. NAT12/NAA30 plays an important role in growth and survival of GICs possibly by regulating hypoxia response (HIF1a), levels of p-MTOR (Ser2448) and the p53 pathway.
      Title: Knockdown of NAT12/NAA30 reduces tumorigenic features of glioblastoma-initiating cells.
    5. Human Naa30 (MAK3) is the catalytic subunit of the human NatC N-terminal acetyltransferase complex. NatC acetylates hydrophobic Met-starting N-termini, and NatC knockdown induces p53-dependent apoptosis.
      Title: Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization.
    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

    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

    • FLJ35355, MGC141884, MGC141885

    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 peptide alpha-N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-methionine-alpha-N-acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NatC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NatC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NatC complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    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 30
    Names
    N-acetyltransferase 12 (GCN5-related, putative)
    N-acetyltransferase MAK3 homolog
    natC catalytic subunit
    putative N-acetyltransferase
    NP_001011713.2

    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_001011713.3 → NP_001011713.2  N-alpha-acetyltransferase 30

      See identical proteins and their annotated locations for NP_001011713.2

      Status: VALIDATED

      Source sequence(s)
      AK092674, AL355834, BC048983, BC118589
      Consensus CDS
      CCDS32088.1
      UniProtKB/Swiss-Prot
      Q0IIN2, Q147X3
      UniProtKB/TrEMBL
      B3KS28
      Related
      ENSP00000452521.1, ENST00000556492.6
      Conserved Domains (1) summary
      COG0456
      Location:209 → 362
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      57390586..57415906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      51597048..51622359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q147X3.1 GenPept UniProtKB/Swiss-Prot:Q147X3

    Gene LinkOut

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

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