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NAA10 Gene

protein-coding   GIFtS: 60
GCID: GC0XM153194

N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit

(Previous names: ARD1 homolog, N-acetyltransferase (S. cerevisiae), ARD1...)
(Previous symbols: ARD1, ARD1A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit1 2     ARD1 Homolog, N-Acetyltransferase (S. Cerevisiae)1
ARD11 2 3 5     ARD1P2
ARD1A1 2 3 5     DXS7072
TE22 3 5     ARD1 Homolog A, N-Acetyltransferase2
NatA Catalytic Subunit Naa102 3     N-Acetyltransferase ARD1, Human Homolog Of2
N-Terminal Acetyltransferase Complex ARD1 Subunit Homolog A2 3     N-Alpha-Acetyltransferase 102
MCOPS12 5     N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit2
NATD2 5     EC 2.3.1.-3
ARD1 Homolog A, N-Acetyltransferase (S. Cerevisiae)1     EC 2.3.1.883

External Ids:    HGNC: 187041   Entrez Gene: 82602   Ensembl: ENSG000001020307   OMIM: 3000135   UniProtKB: P412273   

Export aliases for NAA10 gene to outside databases

Previous GC identifer: GC0XM141848


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NAA10 Gene:
N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This
process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent
polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that
functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this
gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. (provided by
RefSeq, Jan 2012)

GeneCards Summary for NAA10 Gene:
NAA10 (N(alpha)-acetyltransferase 10, NatA catalytic subunit) is a protein-coding gene. Diseases associated with NAA10 include ogden syndrome, and oculofaciocardiodental syndrome. GO annotations related to this gene include acetyltransferase activity and ribosome binding. An important paralog of this gene is NAA11.

UniProtKB/Swiss-Prot: NAA10_HUMAN, P41227
Function: Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal)
acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and
development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby
promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration

Gene Wiki entry for NAA10 (ARD1A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NAA10
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAA10 promoter sequence
   Search Chromatin IP Primers for NAA10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NAA10


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

NAA10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAA10 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153194:  view genomic region     (about GC identifiers)

Start:
153,194,695 bp from pter      End:
153,200,676 bp from pter
Size:
5,982 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAA10_HUMAN, P41227 (See protein sequence)
Recommended Name: N-alpha-acetyltransferase 10  
Size: 235 amino acids; 26459 Da
Subunit: Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA10 and NAA15 or NAA16.
Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, an
down-regulates it when induced by hypoxia. Interacts with NAA50 and with the ribosome. Binds to MYLK. Associates
with HYPK when in complex with NAA15
Secondary accessions: A6NM98
Alternative splicing: 2 isoforms:  P41227-1   P41227-2   

Explore the universe of human proteins at neXtProt for NAA10: NX_P41227

Explore proteomics data for NAA10 at MOPED

Post-translational modifications: 

  • Cleaved by caspases during apoptosis1
  • Ubiquitination2 at Lys78, Lys89, Lys105, Lys148
  • Modification sites at PhosphoSitePlus

  • See NAA10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243048.1  NP_001243049.1  NP_003482.1  

    ENSEMBL proteins: 
     ENSP00000417763   ENSP00000359032   ENSP00000377315   ENSP00000359026   ENSP00000359028  
     ENSP00000413668  

    NAA10 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NAA: N(alpha)-acetyltransferase subunits

    2 InterPro protein domains:
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry P41227

    ProtoNet protein and cluster: P41227

    1 Blocks protein domain: IPB000182 GCN5-related N-acetyltransferase

    UniProtKB/Swiss-Prot: NAA10_HUMAN, P41227
    Similarity: Belongs to the acetyltransferase family. ARD1 subfamily
    Similarity: Contains 1 N-acetyltransferase domain


    NAA10 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAA10_HUMAN, P41227
    Function: Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal)
    acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and
    development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby
    promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration
    Catalytic activity: Acetyl-CoA + peptide = N(alpha)-acetylpeptide + CoA

         Enzyme Numbers (IUBMB): EC 2.3.1.881 EC 2.3.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004596contributes to peptide alpha-N-acetyltransferase activity IDA19480662
    GO:0005515protein binding IPI15496142
    GO:0008080N-acetyltransferase activity TAS7981673
    GO:0016407contributes to acetyltransferase activity IDA15496142
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
         
    NAA10 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for NAA10:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Downregulation of NF-kappaB pa 
     Synthetic lethal with Ras 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NAA10:
    hsa-mir-423-3p (MIRT042605), hsa-mir-16-5p (MIRT031471), hsa-let-7b-5p (MIRT052136), hsa-mir-186-5p (MIRT045213)

    Block miRNA regulation of human, mouse, rat NAA10 using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAA10


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NAA10_HUMAN, P41227: Cytoplasm. Nucleus. Note=According to PubMed:12464182 it is cytoplasmic. According to
    PubMed:15496142, it is nuclear and cytoplasmic. Also present in the free cytosolic and cytoskeleton-bound
    polysomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA15496142
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0031415NatA complex IDA19480662

    NAA10 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NAA10 About    
    See pathways by source

    SuperPathContained pathways About
    1Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for NAA10
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for NAA10
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha




    NAA10 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NAA10
    Interactions:

        Search GeneGlobe Interaction Network for NAA10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NAA10 (P412271, 2, 3 ENSP000004177634) via UniProtKB, MINT, STRING, and/or I2D (see all 204)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006323DNA packaging TAS7981673
    GO:0006474N-terminal protein amino acid acetylation IDA15496142
    GO:0006475internal protein amino acid acetylation TAS7981673

    NAA10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NAA10

    1 Novoseek inferred chemical compound relationship for NAA10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 43 2 16376303 (1), 19090811 (1)



    NAA10 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NAA10 gene (3 alternative transcripts): 
    NM_001256119.1  NM_001256120.1  NM_003491.3  

    Unigene Cluster for NAA10:

    N(alpha)-acetyltransferase 10, NatA catalytic subunit
    Hs.433291  [show with all ESTs]
    Unigene Representative Sequence: AK296593
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464845(uc004fjm.1) ENST00000482485 ENST00000370015 ENST00000393712
    ENST00000370009(uc004fjn.1) ENST00000466877 ENST00000484950 ENST00000460996
    ENST00000370011 ENST00000467451 ENST00000432089 ENST00000477750(uc011mzg.1)
    ENST00000393710 ENST00000477882 ENST00000478177 ENST00000488481
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat NAA10

    Additional mRNA sequence: 

    AK294081.1 AK296593.1 AK309083.1 AK315997.1 AY183134.1 AY183135.1 BC000308.2 BC019312.1 
    BC063377.1 X77588.1 

    16 DOTS entries:

    DT.95176099  DT.315468  DT.100028961  DT.100796606  DT.92337079  DT.100796607  DT.75172251  DT.91751738 
    DT.121319502  DT.91677082  DT.121319504  DT.95176096  DT.95304160  DT.121319494  DT.95176097  DT.95176102 

    Selected AceView cDNA sequences (see all 397):

    BM759805 BQ962748 BU196679 CR612890 AW129725 T16645 CA438229 BQ931929 
    AY183134 CK904981 BM989017 CA487672 BM746660 BI858632 BQ066370 BU730738 
    AU132372 BI917002 BQ434772 CA487714 BF219692 BQ898896 CR599676 BU538872 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NAA10 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
    SP1:                                      -                 -     -                 -           -     -                 -                     
    SP2:                                      -           -     -     -                 -           -     -                                       
    SP3:                                      -                 -     -                 -     -     -     -                 -                     
    SP4:                                      -                 -     -                             -     -                 -                     
    SP5:                                      -                 -     -                                                                           


    ECgene alternative splicing isoforms for NAA10

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NAA10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCGGGACC
    NAA10 Expression
    About this image


    NAA10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Spleen (Hematopoietic System)
    NAA10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NAA10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433291

    UniProtKB/Swiss-Prot: NAA10_HUMAN, P41227
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for NAA10
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAA10

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAA10 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naa101 , 5 N(alpha)-acetyltransferase 10, NatA catalytic subunitNalpha more5
    N(alpha)-acetyltransferase 10, NatA catalytic subunit1
    91.85(n)1
    96(a)1
      X (37.49 cM)5
    562921  NM_019870.31  NP_063923.11 
     739168735 
    lizard
    (Anolis carolinensis)
    Reptilia NAA106
    N(alpha)-acetyltransferase 10, NatA catalytic subu...
    83(a)
    1 ↔ 1
    2(88323375-88331609)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044094.12   -- 82.28(n)    BC044094.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc66b082 Danio rerio cDNA clone MGC63981 IMAGE6792376, complete more 78.13(n)    BC053180.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vnc1 variable nurse cells 77.49(n)
    80.89(a)
      39175  NM_140121.2  NP_648378.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.31 K07H8.3 64.47(n)
    68.13(a)
      177622  NM_068991.4  NP_501392.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARD1(YHR013C)4 Subunit of N-terminal acetyltransferase NatA (Nat1p, more   --   8(131446-130730) 856404  NP_011877.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.29772 Transcribed sequence with moderate similarity to protein more 75.4(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.109712 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.12(n)    AK099507.1 


    ENSEMBL Gene Tree for NAA10 (if available)
    TreeFam Gene Tree for NAA10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NAA10 gene
    NAA112  
    4 SIMAP similar genes for NAA10 using alignment to 5 protein entries:     NAA10_HUMAN (see all proteins):
    ARD1A    NAA11    NAA20    NAA30

    NAA10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NAA10
    PGOHUM00000250064


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NAA10 (see all 116)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666524
    N-terminal acetyltransferase deficiency (NATD)4--see VAR_0666522 S P mis40--------
    rs1875154761,2
    --153195080(+) ACCAAA/GAGTGG 3 -- ds50010--------
    rs1914759801,2
    --153195158(+) CAAGCA/CGACCT 3 -- ds50010--------
    rs1827998791,2
    --153195363(+) GCGCTC/TACACA 3 -- ut310--------
    rs20711281,2
    C,F,A,H--153195393(+) GGAGCG/AAATTT 3 -- ut3115Minor allele frequency- A:0.38NS EA NA 1861
    rs1490561241,2
    C--153195432(+) GATGGC/GGCAGG 3 -- ut310--------
    rs1509712161,2
    F--153195584(+) GAGCTC/TGGAGG 6 P syn11Minor allele frequency- T:0.00NA 4550
    rs2002063881,2
    --153195605(+) TTGCTC/TTCCAC 6 E syn10--------
    rs1408948711,2
    F--153195611(+) TCCACC/TTTGTT 6 K syn11Minor allele frequency- T:0.00NA 4552
    rs42435431,2
    C--153195884(+) CCCACA/GACAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for NAA10 (153194695 - 153200676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NAA10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33199CNV Gain+Loss17666407
    nsv469867CNV Complex16826518

    Human Gene Mutation Database (HGMD): NAA10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NAA10
    DNA2.0 Custom Variant and Variant Library Synthesis for NAA10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300013   
    OMIM disorders: 300855  309800  
    UniProtKB/Swiss-Prot: NAA10_HUMAN, P41227
  • N-terminal acetyltransferase deficiency (NATD) [MIM:300855]: An enzymatic deficiency resulting in
    postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled
    forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures,
    thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and
    microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by
    redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and
    eyebrows. Death results from cardiogenic shock following arrhythmia. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 16 diseases for NAA10:    
    About MalaCards
    ogden syndrome    oculofaciocardiodental syndrome    hypoxia    esophageal cancer
    tonsillitis    esophagitis    malaria    thyroiditis
    multiple myeloma    myeloma    squamous cell carcinoma    cerebritis
    neuronitis    breast cancer    prostatitis    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for NAA10:
    Esophageal cancer     Squamous cell carcinoma

    NAA10 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NAA10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 15994306 (2)

    Human Genome Epidemiology (HuGE) Navigator: NAA10 (0 documents)

    Export disorders for NAA10 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NAA10 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with NAA10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. (PubMed id 19660095)1, 2, 3 Polevoda B.... Sherman F. (BMC Proc. 2009)
    2. Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. (PubMed id 7981673)1, 2, 3 Tribioli C.... Toniolo D. (Hum. Mol. Genet. 1994)
    3. Regulation and destabilization of HIF-1alpha by ARD1-mediated acetylation. (PubMed id 12464182)1, 2, 9 Jeong J.-W.... Kim K.-W. (Cell 2002)
    4. Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. (PubMed id 15496142)1, 2, 9 Arnesen T....Lillehaug J.R. (Biochem. J. 2005)
    5. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. (PubMed id 21700266)1, 2 Rope A.F.... Lyon G.J. (Am. J. Hum. Genet. 2011)
    6. The chaperone-like protein HYPK acts together with NatA in cotranslational N-terminal acetylation and prevention of Huntingtin aggregation. (PubMed id 20154145)1, 2 Arnesen T.... Anderson D. (Mol. Cell. Biol. 2010)
    7. A novel human NatA Nalpha-terminal acetyltransferase complex: hNaa16p-hNaa10p (hNat2-hArd1). (PubMed id 19480662)1, 2 Arnesen T....Lillehaug J.R. (BMC Biochem. 2009)
    8. Arrest defective-1 controls tumor cell behavior by acetylating myosin light chain kinase. (PubMed id 19826488)1, 2 Shin D.H.... Park J.-W. (PLoS ONE 2009)
    9. Cloning and characterization of hNAT5/hSAN: an evolutionarily conserved component of the NatA protein N-alpha-acetyltransferase complex. (PubMed id 16507339)1, 2 Arnesen T....Lillehaug J.R. (Gene 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8260 HGNC: 18704 AceView: ARHGAP4andARD1 Ensembl:ENSG00000102030 euGenes: HUgn8260
    ECgene: NAA10 H-InvDB: NAA10

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NAA10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NAA10 gene:
    Search GeneIP for patents involving NAA10

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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