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NAA50 (N(alpha)-acetyltransferase 50, NatE catalytic subunit)

Identity

Alias_namesMAK3
NAT13
Mak3 homolog (S. cerevisiae)
N-acetyltransferase 13
N-acetyltransferase 13 (GCN5-related)
Alias_symbol (synonym)FLJ13194
NAT5
San
Other aliasNAT13P
NAT5P
SAN
HGNC (Hugo) NAA50
LocusID (NCBI) 80218
Atlas_Id 54485
Location 3q13.2  [Link to chromosome band 3q13]
Location_base_pair Starts at 113435307 and ends at 113465146 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FAM131A (3q27.1) / NAA50 (3q13.2)NAA50 (3q13.2) / CHIT1 (1q32.1)NAA50 (3q13.2) / MRPS35 (12p11.22)
NAA50 (3q13.2) / NAA50 (3q13.2)NAA50 (3q13.2) / RPL11 (1p36.11)NAA50 (3q13.2) / SNAPC3 (9p22.3)
NAA50 (3q13.2) / STATH (4q13.3)FAM131A 3q27.1 / NAA50 3q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NAA50   29533
Cards
Entrez_Gene (NCBI)NAA50  80218  N(alpha)-acetyltransferase 50, NatE catalytic subunit
AliasesMAK3; NAT13; NAT13P; NAT5; 
NAT5P; SAN
GeneCards (Weizmann)NAA50
Ensembl hg19 (Hinxton)ENSG00000121579 [Gene_View]  chr3:113435307-113465146 [Contig_View]  NAA50 [Vega]
Ensembl hg38 (Hinxton)ENSG00000121579 [Gene_View]  chr3:113435307-113465146 [Contig_View]  NAA50 [Vega]
ICGC DataPortalENSG00000121579
TCGA cBioPortalNAA50
AceView (NCBI)NAA50
Genatlas (Paris)NAA50
WikiGenes80218
SOURCE (Princeton)NAA50
Genetics Home Reference (NIH)NAA50
Genomic and cartography
GoldenPath hg19 (UCSC)NAA50  -     chr3:113435307-113465146 -  3q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NAA50  -     3q13.2   [Description]    (hg38-Dec_2013)
EnsemblNAA50 - 3q13.2 [CytoView hg19]  NAA50 - 3q13.2 [CytoView hg38]
Mapping of homologs : NCBINAA50 [Mapview hg19]  NAA50 [Mapview hg38]
OMIM610834   
Gene and transcription
Genbank (Entrez)AK022540 AK023090 AK023256 AK296456 AK307184
RefSeq transcript (Entrez)NM_001308445 NM_025146
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)NAA50
Cluster EST : UnigeneHs.372378 [ NCBI ]
CGAP (NCI)Hs.372378
Alternative Splicing GalleryENSG00000121579
Gene ExpressionNAA50 [ NCBI-GEO ]   NAA50 [ EBI - ARRAY_EXPRESS ]   NAA50 [ SEEK ]   NAA50 [ MEM ]
Gene Expression Viewer (FireBrowse)NAA50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80218
GTEX Portal (Tissue expression)NAA50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZZ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZZ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZZ1
Splice isoforms : SwissVarQ9GZZ1
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusQ9GZZ1
Domaine pattern : Prosite (Expaxy)GNAT (PS51186)   
Domains : Interpro (EBI)Acyl_CoA_acyltransferase    GNAT_dom   
Domain families : Pfam (Sanger)Acetyltransf_1 (PF00583)   
Domain families : Pfam (NCBI)pfam00583   
Conserved Domain (NCBI)NAA50
DMDM Disease mutations80218
Blocks (Seattle)NAA50
PDB (SRS)2OB0    2PSW    3TFY    4X5K   
PDB (PDBSum)2OB0    2PSW    3TFY    4X5K   
PDB (IMB)2OB0    2PSW    3TFY    4X5K   
PDB (RSDB)2OB0    2PSW    3TFY    4X5K   
Structural Biology KnowledgeBase2OB0    2PSW    3TFY    4X5K   
SCOP (Structural Classification of Proteins)2OB0    2PSW    3TFY    4X5K   
CATH (Classification of proteins structures)2OB0    2PSW    3TFY    4X5K   
SuperfamilyQ9GZZ1
Human Protein AtlasENSG00000121579
Peptide AtlasQ9GZZ1
HPRD14350
IPIIPI00018627   IPI00470922   IPI01025819   IPI00946830   IPI00945622   IPI00793985   IPI00946268   IPI00947437   IPI00946447   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZZ1
IntAct (EBI)Q9GZZ1
FunCoupENSG00000121579
BioGRIDNAA50
STRING (EMBL)NAA50
ZODIACNAA50
Ontologies - Pathways
QuickGOQ9GZZ1
Ontology : AmiGOpeptide alpha-N-acetyltransferase activity  protein binding  cytoplasm  N-terminal protein amino acid acetylation  H4 histone acetyltransferase activity  NatA complex  histone H4 acetylation  peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor  extracellular exosome  mitotic sister chromatid cohesion, centromeric  
Ontology : EGO-EBIpeptide alpha-N-acetyltransferase activity  protein binding  cytoplasm  N-terminal protein amino acid acetylation  H4 histone acetyltransferase activity  NatA complex  histone H4 acetylation  peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor  extracellular exosome  mitotic sister chromatid cohesion, centromeric  
NDEx NetworkNAA50
Atlas of Cancer Signalling NetworkNAA50
Wikipedia pathwaysNAA50
Orthology - Evolution
OrthoDB80218
GeneTree (enSembl)ENSG00000121579
Phylogenetic Trees/Animal Genes : TreeFamNAA50
HOVERGENQ9GZZ1
HOGENOMQ9GZZ1
Homologs : HomoloGeneNAA50
Homology/Alignments : Family Browser (UCSC)NAA50
Gene fusions - Rearrangements
Fusion : MitelmanFAM131A/NAA50 [3q27.1/3q13.2]  [t(3;3)(q13;q27)]  
Fusion : MitelmanNAA50/MRPS35 [3q13.2/12p11.22]  [t(3;12)(q13;p11)]  
Fusion: TCGAFAM131A 3q27.1 NAA50 3q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNAA50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NAA50
dbVarNAA50
ClinVarNAA50
1000_GenomesNAA50 
Exome Variant ServerNAA50
ExAC (Exome Aggregation Consortium)NAA50 (select the gene name)
Genetic variants : HAPMAP80218
Genomic Variants (DGV)NAA50 [DGVbeta]
DECIPHER (Syndromes)3:113435307-113465146  ENSG00000121579
CONAN: Copy Number AnalysisNAA50 
Mutations
ICGC Data PortalNAA50 
TCGA Data PortalNAA50 
Broad Tumor PortalNAA50
OASIS PortalNAA50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNAA50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNAA50
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NAA50
DgiDB (Drug Gene Interaction Database)NAA50
DoCM (Curated mutations)NAA50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NAA50 (select a term)
intoGenNAA50
Cancer3DNAA50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610834   
Orphanet
MedgenNAA50
Genetic Testing Registry NAA50
NextProtQ9GZZ1 [Medical]
TSGene80218
GENETestsNAA50
Huge Navigator NAA50 [HugePedia]
snp3D : Map Gene to Disease80218
BioCentury BCIQNAA50
ClinGenNAA50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80218
Chemical/Pharm GKB GenePA165697846
Clinical trialNAA50
Miscellaneous
canSAR (ICR)NAA50 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNAA50
EVEXNAA50
GoPubMedNAA50
iHOPNAA50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:11:34 CEST 2017

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