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    NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit [ Homo sapiens (human) ]

    Gene ID: 80155, updated on 3-Dec-2024

    Summary

    Official Symbol
    NAA15provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 15, NatA auxiliary subunitprovided by HGNC
    Primary source
    HGNC:HGNC:30782
    See related
    Ensembl:ENSG00000164134 MIM:608000; AllianceGenome:HGNC:30782
    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
    Ga19; NATH; TBDN; MRD50; NARG1; NAT1P; TBDN100
    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 the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in testis (RPKM 10.4), lymph node (RPKM 9.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NAA15 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139301505..139391384)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142621100..142711046)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140222659..140312538)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1074, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:140187301-140188500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21921 Neighboring gene mitochondria localized glutamic acid rich protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140216745-140217308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21923 Neighboring gene NADH:ubiquinone oxidoreductase subunit C1 Neighboring gene RNA, U6 small nuclear 1214, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:140305511-140305673 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 2 pseudogene Neighboring gene small nucleolar RNA ACA64

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 50
    MedGen: C4540470 OMIM: 617787 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables acetyltransferase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 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 angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    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 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    N-alpha-acetyltransferase 15, NatA auxiliary subunit
    Names
    N-terminal acetyltransferase
    NMDA receptor regulated 1
    NMDA receptor-regulated protein 1
    gastric cancer antigen Ga19
    protein tubedown-1
    transcriptional coactivator tubedown-100
    tubedown-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053037.1 RefSeqGene

      Range
      5039..94918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001410842.1NP_001397771.1  N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC097376
      Consensus CDS
      CCDS93635.1
      UniProtKB/TrEMBL
      A0A0B4J1W3, B2RBE5
      Related
      ENSP00000381920.1, ENST00000398947.1
    2. NM_057175.5NP_476516.1  N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform 1

      See identical proteins and their annotated locations for NP_476516.1

      Status: REVIEWED

      Source sequence(s)
      AC097376, AY039242, BX499137
      Consensus CDS
      CCDS43270.1
      UniProtKB/Swiss-Prot
      D3DNY6, Q52LG9, Q8IWH4, Q8NEV2, Q9BXJ9, Q9H8P6
      UniProtKB/TrEMBL
      B2RBE5
      Related
      ENSP00000296543.4, ENST00000296543.10
      Conserved Domains (3) summary
      TIGR02917
      Location:90271
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:82108
      TPR; TPR repeat [structural motif]
      pfam12569
      Location:187698
      NARP1; NMDA receptor-regulated protein 1

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      139301505..139391384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      142621100..142711046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)