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Aliases for NAA50 Gene

Aliases for NAA50 Gene

  • N(Alpha)-Acetyltransferase 50, NatE Catalytic Subunit 2 3 5
  • N-Acetyltransferase 13 (GCN5-Related) 2 3
  • N-Acetyltransferase San Homolog 3 4
  • N-Acetyltransferase 13 2 4
  • NatE Catalytic Subunit 3 4
  • N-Acetyltransferase 5 3 4
  • NAT13 3 4
  • NAT5 3 4
  • MAK3 3 4
  • N-Alpha-Acetyltransferase 50, NatE Catalytic Subunit 3
  • Mak3 Homolog (S. Cerevisiae) 2
  • EC 2.3.1.- 4
  • NAT13P 3
  • NAT5P 3
  • HNAT5 4
  • HSAN 4
  • SAN 3

External Ids for NAA50 Gene

Previous HGNC Symbols for NAA50 Gene

  • MAK3
  • NAT13

Previous GeneCards Identifiers for NAA50 Gene

  • GC03M113437
  • GC03M110812

Summaries for NAA50 Gene

GeneCards Summary for NAA50 Gene

NAA50 (N(Alpha)-Acetyltransferase 50, NatE Catalytic Subunit) is a Protein Coding gene. Diseases associated with NAA50 include neuropathy, hereditary sensory and autonomic, type ia and n-terminal acetyltransferase deficiency. Among its related pathways are Phase II conjugation. GO annotations related to this gene include N-acetyltransferase activity and H4 histone acetyltransferase activity.

UniProtKB/Swiss-Prot for NAA50 Gene

  • Probable catalytic component of the NAA11-NAA15 complex which displays alpha (N-terminal) acetyltransferase activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAA50 Gene

Genomics for NAA50 Gene

Regulatory Elements for NAA50 Gene

Promoters for NAA50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NAA50 on UCSC Golden Path with GeneCards custom track

Genomic Location for NAA50 Gene

Chromosome:
3
Start:
113,716,460 bp from pter
End:
113,746,300 bp from pter
Size:
29,841 bases
Orientation:
Minus strand

Genomic View for NAA50 Gene

Genes around NAA50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAA50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAA50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAA50 Gene

Proteins for NAA50 Gene

  • Protein details for NAA50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZZ1-NAA50_HUMAN
    Recommended name:
    N-alpha-acetyltransferase 50
    Protein Accession:
    Q9GZZ1
    Secondary Accessions:
    • D3DN74
    • Q68DQ1

    Protein attributes for NAA50 Gene

    Size:
    169 amino acids
    Molecular mass:
    19398 Da
    Quaternary structure:
    • Interacts with NAA35 (By similarity). Interacts with NAA15 and NAA11.

    Three dimensional structures from OCA and Proteopedia for NAA50 Gene

    Alternative splice isoforms for NAA50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAA50 Gene

Proteomics data for NAA50 Gene at MOPED

Post-translational modifications for NAA50 Gene

  • Ubiquitination at Lys 34, Lys 37, Lys 126, and Lys 152
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NAA50

No data available for DME Specific Peptides for NAA50 Gene

Domains & Families for NAA50 Gene

Protein Domains for NAA50 Gene

Suggested Antigen Peptide Sequences for NAA50 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZZ1

UniProtKB/Swiss-Prot:

NAA50_HUMAN :
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the acetyltransferase family. GNAT subfamily.
Domain:
  • Contains 1 N-acetyltransferase domain.
Family:
  • Belongs to the acetyltransferase family. GNAT subfamily.
genes like me logo Genes that share domains with NAA50: view

Function for NAA50 Gene

Molecular function for NAA50 Gene

UniProtKB/Swiss-Prot Function:
Probable catalytic component of the NAA11-NAA15 complex which displays alpha (N-terminal) acetyltransferase activity.

Enzyme Numbers (IUBMB) for NAA50 Gene

Gene Ontology (GO) - Molecular Function for NAA50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008080 N-acetyltransferase activity IEA --
genes like me logo Genes that share ontologies with NAA50: view

Phenotypes for NAA50 Gene

genes like me logo Genes that share phenotypes with NAA50: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NAA50

miRNA for NAA50 Gene

miRTarBase miRNAs that target NAA50

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAA50 Gene

Localization for NAA50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAA50 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAA50 Gene COMPARTMENTS Subcellular localization image for NAA50 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for NAA50 Gene

Pathways & Interactions for NAA50 Gene

SuperPathways for NAA50 Gene

Superpath Contained pathways
1 Phase II conjugation
genes like me logo Genes that share pathways with NAA50: view

Pathways by source for NAA50 Gene

1 BioSystems pathway for NAA50 Gene

Gene Ontology (GO) - Biological Process for NAA50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006474 N-terminal protein amino acid acetylation TAS 16507339
genes like me logo Genes that share ontologies with NAA50: view

No data available for SIGNOR curated interactions for NAA50 Gene

Drugs & Compounds for NAA50 Gene

No Compound Related Data Available

Transcripts for NAA50 Gene

Unigene Clusters for NAA50 Gene

N(alpha)-acetyltransferase 50, NatE catalytic subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAA50 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for NAA50 Gene

GeneLoc Exon Structure for
NAA50
ECgene alternative splicing isoforms for
NAA50

Expression for NAA50 Gene

mRNA expression in normal human tissues for NAA50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAA50 Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for NAA50 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAA50 Gene



SOURCE GeneReport for Unigene cluster for NAA50 Gene Hs.372378

genes like me logo Genes that share expression patterns with NAA50: view

Protein tissue co-expression partners for NAA50 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NAA50 Gene

Orthologs for NAA50 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAA50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAA50 35
  • 100 (n)
  • 100 (a)
NAA50 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NAA50 36
  • 100 (a)
OneToOne
NAA50 35
  • 95.07 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia NAA50 35
  • 98.03 (n)
  • 100 (a)
NAA50 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naa50 16
Naa50 35
  • 92.26 (n)
  • 98.81 (a)
Naa50 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAA50 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAA50 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naa50 35
  • 92.06 (n)
  • 97.02 (a)
chicken
(Gallus gallus)
Aves NAA50 36
  • 98 (a)
OneToOne
NAA50 35
  • 89.47 (n)
  • 99.34 (a)
lizard
(Anolis carolinensis)
Reptilia NAA50 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24370 35
tropical clawed frog
(Silurana tropicalis)
Amphibia naa50 35
  • 82.74 (n)
  • 97.62 (a)
Str.7260 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8499 35
zebrafish
(Danio rerio)
Actinopterygii naa50 36
  • 93 (a)
OneToOne
naa50 35
  • 80.24 (n)
  • 93.41 (a)
wufb01d06 35
fruit fly
(Drosophila melanogaster)
Insecta san 36
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F40F4.7 36
  • 31 (a)
OneToMany
F54E7.9 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAT5 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.735 35
Species with no ortholog for NAA50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAA50 Gene

ENSEMBL:
Gene Tree for NAA50 (if available)
TreeFam:
Gene Tree for NAA50 (if available)

Paralogs for NAA50 Gene

Pseudogenes.org Pseudogenes for NAA50 Gene

genes like me logo Genes that share paralogs with NAA50: view

No data available for Paralogs for NAA50 Gene

Variants for NAA50 Gene

Sequence variations from dbSNP and Humsavar for NAA50 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs15781 -- 113,721,674(+) TAAAA(A/G/T)AAAAG utr-variant-3-prime
rs1378180 -- 113,718,765(+) TCCCT(C/T)TCATT downstream-variant-500B, utr-variant-3-prime
rs2566970 -- 113,743,276(-) ACGAA(A/G)CCAGT intron-variant
rs6438166 -- 113,721,072(+) GAAAA(A/C)CAAAC utr-variant-3-prime
rs7649590 -- 113,728,420(+) GTGTA(C/T)GTACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAA50 Gene

Variant ID Type Subtype PubMed ID
nsv519099 CNV Loss 19592680
nsv829678 CNV Loss 17160897
nsv877351 CNV Loss 21882294

Variation tolerance for NAA50 Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAA50 Gene

HapMap Linkage Disequilibrium report
NAA50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAA50 Gene

Disorders for NAA50 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NAA50 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type ia
  • hereditary sensory neuropathy type ia
n-terminal acetyltransferase deficiency
  • ogden syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NAA50 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NAA50

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAA50
genes like me logo Genes that share disorders with NAA50: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAA50 Gene

Publications for NAA50 Gene

  1. A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. (PMID: 19660095) Polevoda B. … Sherman F. (BMC Proc. 2009) 2 3 4 67
  2. Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity. (PMID: 19744929) Evjenth R. … Lillehaug J.R. (J. Biol. Chem. 2009) 2 3
  3. The acetyltransferase activity of San stabilizes the mitotic cohesin at the centromeres in a shugoshin-independent manner. (PMID: 17502424) Hou F. … Zou H. (J. Cell Biol. 2007) 2 3
  4. Cloning and characterization of hNAT5/hSAN: an evolutionarily conserved component of the NatA protein N-alpha-acetyltransferase complex. (PMID: 16507339) Arnesen T. … Lillehaug J.R. (Gene 2006) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for NAA50 Gene

Sources for NAA50 Gene

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