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

Gene ID: 80155, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139301505..139391384)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142621100..142711046)
105.20220307 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 glucose-fructose 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
  • 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. Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants. Tian Y, et al. Genes (Basel), 2022 Mar 18. PMID 35328089, Free PMC Article
  2. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Ward T, et al. Circ Res, 2021 Apr 16. PMID 33557580, Free PMC Article
  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. Suppressed expression of tubedown-1 in retinal neovascularization of proliferative diabetic retinopathy. Gendron RL, et al. Invest Ophthalmol Vis Sci, 2001 Nov. PMID 11687548

See all (97) 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
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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 
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 peptidyl-methionine acetylation IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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