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

Gene ID: 80218, updated on 5-Mar-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 H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; and peptidyl-lysine 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 nucleus. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q13.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113716458..113746249, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116437658..116467450, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  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. 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

See all (56) 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 peptidyl-lysine acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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

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