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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
  • Mak3 Homolog (S. Cerevisiae) 2
  • N-Alpha-Acetyltransferase 50 3
  • EC 2.3.1.258 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 Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant and N-Terminal Acetyltransferase Deficiency. Among its related pathways are Cytochrome P450 - arranged by substrate type. 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 , CIViC 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

Enhancers for NAA50 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G113694 1.4 FANTOM5 ENCODE 14.2 +49.1 49127 4.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZBTB7B YY1 ZNF207 ZNF143 NAA50 USF3 QTRT2 ENSG00000259976 SIDT1 ATP6V1A GC03P113719
GH03G113796 1 dbSUPER 12 -50.2 -50241 0.9 ATF1 CREB3L1 ARID4B SIN3A ZNF48 ZNF2 YY1 ELK1 SP5 MXD4 ATP6V1A GRAMD1C ENSG00000242659 NAA50 ENSG00000239280
GH03G113271 1.1 ENCODE dbSUPER 9.9 +474.5 474512 0.2 CBX3 BMI1 ZBTB40 ZNF766 EGR1 ZNF143 PRPF4 THAP11 ZBTB11 CEBPB QTRT2 SPICE1 CFAP44 NAA50 USF3 GC03M113287 GC03M113216
GH03G113272 1.1 dbSUPER 9.9 +473.4 473422 1.1 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF263 SP3 SP5 ZHX2 SPICE1 QTRT2 SIDT1 CFAP44 NAA50 USF3 BOC GC03M113287 GC03M113216
GH03G113775 0.6 dbSUPER 11.7 -30.5 -30486 2.9 CTCF ZNF654 TRIM22 ZNF623 RAD21 GATA3 SMC3 CUX1 PRDM1 MIXL1 ATP6V1A ENSG00000242659 NAA50 ENSG00000239280 GRAMD1C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAA50 on UCSC Golden Path with GeneCards custom track

Promoters for NAA50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000156724 -300 4001 HDGF PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for NAA50 Gene

  • Ubiquitination at posLast=3434, posLast=3737, Lys126, and posLast=152152
  • Modification sites at PhosphoSitePlus

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 :
  • Belongs to the acetyltransferase family. GNAT subfamily.
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 CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-alanyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-alanyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-seryl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-seryl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-valyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-valyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-threonyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-threonyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-lysyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-lysyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-leucyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-leucyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-phenylalanyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-phenylalanyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-methionyl-L-tyrosyl-[protein] = an N-terminal-N(alpha)-acetyl-L-methionyl-L-tyrosyl-[protein] + CoA.
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:0004596 peptide alpha-N-acetyltransferase activity IDA 17502424
GO:0005515 protein binding IPI 16507339
GO:0008080 N-acetyltransferase activity IEA --
GO:0010485 H4 histone acetyltransferase activity IDA 19744929
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NAA50: view
genes like me logo Genes that share phenotypes with NAA50: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NAA50

CRISPR Products

miRNA for NAA50 Gene

miRTarBase miRNAs that target NAA50

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAA50

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. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAA50 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NAA50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 25732826
GO:0005737 cytoplasm IDA,IEA 16507339
GO:0031415 colocalizes_with NatA complex IDA 16507339
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NAA50: view

Pathways & Interactions for NAA50 Gene

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
GO:0043967 histone H4 acetylation IEA --
GO:0071962 mitotic sister chromatid cohesion, centromeric IDA 17502424
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAA50

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NAA50 Gene



Protein tissue co-expression partners for NAA50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAA50 Gene:

NAA50

SOURCE GeneReport for Unigene cluster for NAA50 Gene:

Hs.372378

Evidence on tissue expression from TISSUES for NAA50 Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Skin(3.5)
  • Liver(3)
  • Muscle(3)
  • Heart(2)
  • Kidney(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with NAA50: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia NAA50 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAA50 34 35
  • 98.03 (n)
cow
(Bos Taurus)
Mammalia NAA50 34 35
  • 95.07 (n)
mouse
(Mus musculus)
Mammalia Naa50 34 16 35
  • 92.26 (n)
rat
(Rattus norvegicus)
Mammalia Naa50 34
  • 92.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NAA50 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAA50 34 35
  • 89.47 (n)
lizard
(Anolis carolinensis)
Reptilia NAA50 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naa50 34
  • 82.74 (n)
Str.7260 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24370 34
zebrafish
(Danio rerio)
Actinopterygii naa50 34 35
  • 80.24 (n)
wufb01d06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8499 34
fruit fly
(Drosophila melanogaster)
Insecta san 35
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F40F4.7 35
  • 31 (a)
OneToMany
F54E7.9 35
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAT5 37
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.735 34
Species where no ortholog for NAA50 was found in the sources mined by GeneCards:
  • 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
rs1000032316 -- 113,728,338(+) AGTAT(C/G)TATGT intron-variant
rs1000358130 -- 113,747,010(+) GGCCC(C/G)CCCCC upstream-variant-2KB
rs1000377431 -- 113,738,939(+) TCTCT(A/G)AAGAA intron-variant
rs1000519760 -- 113,732,871(+) TTCCA(C/T)CAGTA intron-variant
rs1000589373 -- 113,743,053(+) TCCTA(A/G)TATAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1013506 CNV gain 25217958
nsv1013746 CNV gain 25217958
nsv1114417 CNV deletion 24896259
nsv519099 CNV loss 19592680
nsv829678 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAA50

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

Disorders for NAA50 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NAA50 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
n-terminal acetyltransferase deficiency
  • ogden syndrome
tabes dorsalis
  • posterior spinal sclerosis
peripheral nervous system disease
  • peripheral nerve disease
charcot-marie-tooth disease, axonal, type 2k
  • charcot-marie-tooth disease, axonal, with vocal cord paresis
- 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 64
  2. 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 4 64
  3. An organellar nI+-acetyltransferase, naa60, acetylates cytosolic N termini of transmembrane proteins and maintains Golgi integrity. (PMID: 25732826) Aksnes H. … Arnesen T. (Cell Rep 2015) 3 4 64
  4. 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 64
  5. 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 64

Products for NAA50 Gene

  • Addgene plasmids for NAA50

Sources for NAA50 Gene

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