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

    Gene ID: 80155, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 novel Xenopus acetyltransferase with a dynamic expression in early development. Choi SC, et al. Biochem Biophys Res Commun, 2001 Aug 3. PMID 11478804
    2. Suppressed expression of tubedown-1 in retinal neovascularization of proliferative diabetic retinopathy. Gendron RL, et al. Invest Ophthalmol Vis Sci, 2001 Nov. PMID 11687548
    3. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Cheng H, et al. Am J Hum Genet, 2018 May 3. PMID 29656860, Free PMC Article
    4. [Cloning and analysis of a novel gene encoding N-terminal acetyltransferase subunit]. He YG, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2002 May. PMID 12019451
    5. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Ward T, et al. Circ Res, 2021 Apr 16. PMID 33557580, Free PMC Article

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
      Title: Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
    3. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
      Title: Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
    4. Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
      Title: Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
    5. Structure and mechanism of acetylation by the N-terminal dual enzyme NatA/Naa50 complex has been reported.
      Title: Structure and Mechanism of Acetylation by the N-Terminal Dual Enzyme NatA/Naa50 Complex.
    6. Results provide evidence that Naa15 metazoan-specific domain contributes to N-terminal acetyltransferases A activity and stability.
      Title: Structure of Human NatA and Its Regulation by the Huntingtin Interacting Protein HYPK.
    7. individuals with copy-number variant (CNV) deletions involving NAA15 and surrounding genes can present with mild intellectual disability, mild dysmorphic features, motor delays, and decreased growth.
      Title: Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    8. In combination with acetylation assays, the HypK N-terminal region is identified as a negative regulator of the NatA acetylation activity
      Title: Structural basis of HypK regulating N-terminal acetylation by the NatA complex.
    9. Authors highlight NAA15 as a novel candidate ID gene based on the vital role of NAA15 in the generation and differentiation of neurons in neonatal brain.
      Title: Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
    10. Human Naa15 (NATH) and Naa10 (ARD1) form a stable NatA complex which associates with ribosomes and performs co-translational N-terminal acetylation; Naa15 (NATH) and Naa10 (ARD1) are cleaved during apoptosis resulting in decreased acetyltransferase activity
      Title: Identification and characterization of the human ARD1-NATH protein acetyltransferase complex.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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 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

    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

    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

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    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)

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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_053037.1 RefSeqGene

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

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC097376
      Consensus CDS
      CCDS93635.1
      UniProtKB/TrEMBL
      A0A0B4J1W3
      Related
      ENSP00000381920.1, ENST00000398947.1

    2. NM_057175.5 → NP_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:90 → 271
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:82 → 108
      TPR; TPR repeat [structural motif]
      pfam12569
      Location:187 → 698
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ9.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ9

    Gene LinkOut

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

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