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    NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 80218, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NAA50provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 50, NatE catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:29533
    See related
    Ensembl:ENSG00000121579 MIM:610834; AllianceGenome:HGNC:29533
    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
    SAN; MAK3; NAT5; NAT13; NAT5P; NAT13P; hNaa50p
    Summary
    Enables histone H4 acetyltransferase activity and peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleolus. Part of NatA complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA50 in Genome Data Viewer
    Location:
    3q13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113716458..113746249, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116437658..116467450, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113435305..113465096, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SID1 transmembrane family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:113356851-113357351 Neighboring gene RNA, 7SL, cytoplasmic 767, pseudogene Neighboring gene upstream transcription factor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14609 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113463940-113464676 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113464677-113465412 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113465413-113466148 Neighboring gene ATPase H+ transporting V1 subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14611 Neighboring gene GRAM domain containing 1C Neighboring gene ribosomal protein S10 pseudogene 4

    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. The acetyltransferase activity of San stabilizes the mitotic cohesin at the centromeres in a shugoshin-independent manner. Hou F, et al. J Cell Biol, 2007 May 21. PMID 17502424, Free PMC Article
    2. Structure of a ternary Naa50p (NAT5/SAN) N-terminal acetyltransferase complex reveals the molecular basis for substrate-specific acetylation. Liszczak G, et al. J Biol Chem, 2011 Oct 21. PMID 21900231, Free PMC Article
    3. Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study. Evjenth RH, et al. J Biol Chem, 2012 Mar 23. PMID 22311970, Free PMC Article
    4. Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity. Evjenth R, et al. J Biol Chem, 2009 Nov 6. PMID 19744929, Free PMC Article
    5. Human Naa50 Protein Displays Broad Substrate Specificity for Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL ANALYSIS USING TETRAPEPTIDE LIBRARY. Reddi R, et al. J Biol Chem, 2016 Sep 23. PMID 27484799, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Because Naa10 is reported to acetylate all amino termini that are devoid of methionine and Naa50 acetylates all other peptides that are followed by methionine
      Title: Human Naa50 Protein Displays Broad Substrate Specificity for Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL ANALYSIS USING TETRAPEPTIDE LIBRARY.
    2. co-depletion of NatA, a heterodimeric NAT complex that physically interacts with Naa50, rescues the sister-chromatid cohesion defects and the resulting mitotic arrest caused by Naa50 depletion, indicating that NatA and Naa50 play antagonistic roles in cohesion.
      Title: Opposing Functions of the N-terminal Acetyltransferases Naa50 and NatA in Sister-chromatid Cohesion.
    3. The study quantitatively compared the Nt-acetylomes of wild-type yeast S. cerevisiae expressing the endogenous yeast Naa50 (yNaa50), the congenic strain lacking yNaa50, and an otherwise identical strain expressing human Naa50 (hNaa50).
      Title: N-terminal acetylome analysis reveals the specificity of Naa50 (Nat5) and suggests a kinetic competition between N-terminal acetyltransferases and methionine aminopeptidases.
    4. The first description of the human homologue of Nat5p/San, hNAT5, the third component of the human NatA N-alpha-acetyltransferase complex
      Title: Cloning and characterization of hNAT5/hSAN: an evolutionarily conserved component of the NatA protein N-alpha-acetyltransferase complex.
    5. Nat5 displays both protein N alpha- and N epsilon-acetyltransferase activity.
      Title: Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity.
    6. Development of the first N-terminal acetyltransferase (NAT) inhibitors, including a specific Naa50 inhibitor.
      Title: Design, synthesis, and kinetic characterization of protein N-terminal acetyltransferase inhibitors.
    7. Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study.
      Title: Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study.
    8. Naa50p can accommodate only an alpha-amino substrate and not a side chain lysine substrate that is acetylated by lysine acetyltransferase enzymes such as Gcn5.
      Title: Structure of a ternary Naa50p (NAT5/SAN) N-terminal acetyltransferase complex reveals the molecular basis for substrate-specific acetylation.
    9. Data show that with MAK3 knockdown, p53 is stabilized and phosphorylated and there is a significant transcriptional activation of proapoptotic genes downstream of p53, and that localization of Arl8b is altered, suggesting that Arl8b is a Mak3 substrate.
      Title: Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization.
    10. May be specifically required for the maintenance of centromeric cohesion in mitosis.
      Title: The acetyltransferase activity of San stabilizes the mitotic cohesin at the centromeres in a shugoshin-independent manner.
    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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    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

    • FLJ13194

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H4 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 alpha-N-acetyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables peptide-lysine-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 N-terminal protein amino acid acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in N-terminal protein amino acid acetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in N-terminal protein amino acid acetylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of mitotic sister chromatid cohesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic sister chromatid cohesion, centromeric 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 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome 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 50
    Names
    N-acetyltransferase 13 (GCN5-related)
    N-acetyltransferase 5
    N-acetyltransferase san homolog
    N-epsilon-acetyltransferase 50
    natE catalytic subunit
    NP_001295374.1
    NP_079422.1

    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.

    mRNA and Protein(s)

    1. NM_001308445.2 → NP_001295374.1  N-alpha-acetyltransferase 50 isoform 2

      See identical proteins and their annotated locations for NP_001295374.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AC108693, AL601126, BX102492
      Consensus CDS
      CCDS77791.1
      UniProtKB/TrEMBL
      E7EQ69
      Related
      ENSP00000417837.1, ENST00000493900.5
      Conserved Domains (1) summary
      COG0456
      Location:9 → 144
      RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

    2. NM_025146.4 → NP_079422.1  N-alpha-acetyltransferase 50 isoform 1

      See identical proteins and their annotated locations for NP_079422.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108693, AW954963, BC012731, BM831426, BX102492, DA408894, DA599265, DB096143, DB198553, H15889, H39948, HX784836
      Consensus CDS
      CCDS2975.1
      UniProtKB/Swiss-Prot
      D3DN74, Q68DQ1, Q9GZZ1
      Related
      ENSP00000240922.2, ENST00000240922.8
      Conserved Domains (1) summary
      COG0456
      Location:10 → 145
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      113716458..113746249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      116437658..116467450 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZZ1.1 GenPept UniProtKB/Swiss-Prot:Q9GZZ1

    Gene LinkOut

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

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