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

Gene ID: 80218, updated on 15-Jun-2019

Summary

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
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
Expression
Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues See more
Orthologs

Genomic context

See NAA50 in Genome Data Viewer
Location:
3q13.31
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (113716460..113746299, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113435307..113465120, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 767, pseudogene Neighboring gene upstream transcription factor family member 3 Neighboring gene ATPase H+ transporting V1 subunit A Neighboring gene GRAM domain containing 1C Neighboring gene ribosomal protein S10 pseudogene 4

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
H4 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide alpha-N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide alpha-N-acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-lysine acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-terminal protein amino acid acetylation IDA
Inferred from Direct Assay
more info
PubMed 
N-terminal protein amino acid acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
N-terminal protein amino acid acetylation TAS
Traceable Author Statement
more info
PubMed 
establishment of mitotic sister chromatid cohesion IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IEA
Inferred from Electronic Annotation
more info
 
histone acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic sister chromatid cohesion, centromeric IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
NatA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NatA complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001308445.2NP_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:9144
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
  2. NM_025146.4NP_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
    Q9GZZ1
    Related
    ENSP00000240922.2, ENST00000240922.8
    Conserved Domains (1) summary
    COG0456
    Location:10145
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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