Human Gene NAA10 (uc004fjm.2) Description and Page Index
  Description: Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.
RefSeq Summary (NM_003491): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:153,195,280-153,200,607 Size: 5,328 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chrX:153,195,440-153,200,357 Size: 4,918 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,195,280-153,200,607)mRNA (may differ from genome)Protein (235 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NAA10_HUMAN
DESCRIPTION: RecName: Full=N-alpha-acetyltransferase 10; EC=2.3.1.-; EC=2.3.1.88; AltName: Full=N-terminal acetyltransferase complex ARD1 subunit homolog A; AltName: Full=NatA catalytic subunit;
FUNCTION: In complex with NAA15, displays alpha (N-terminal) acetyltransferase activity. 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.
SUBUNIT: Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, and down-regulates it when induced by hypoxia. Interacts with NAA15, NAA50 and with the ribosome. Binds to MYLK.
INTERACTION: Q15052:ARHGEF6; NbExp=3; IntAct=EBI-747693, EBI-1642523; Q14155:ARHGEF7; NbExp=3; IntAct=EBI-747693, EBI-717515; O55043:Arhgef7 (xeno); NbExp=3; IntAct=EBI-747693, EBI-3649585;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Cleaved by caspases during apoptosis.
DISEASE: Defects in NAA10 are the cause of N-terminal acetyltransferase deficiency (NATD) [MIM:300855]. NATD is 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.
SIMILARITY: Belongs to the acetyltransferase family. ARD1 subfamily.
SIMILARITY: Contains 1 N-acetyltransferase domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: NAA10
Diseases sorted by gene-association score: ogden syndrome* (1687), microphthalmia, syndromic 1* (1319), naa10-related lenz microphthalmia syndrome* (500), lenz microphthalmia syndromic* (100), cardiogenic shock (10), mental retardation, x-linked syndromic, lubs type (7), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.66 RPKM in Spleen
Total median expression: 1145.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.50250-0.514 Picture PostScript Text
3' UTR -56.86160-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR000182 - GNAT_dom

Pfam Domains:
PF00583 - Acetyltransferase (GNAT) family
PF08445 - FR47-like protein
PF13508 - Acetyltransferase (GNAT) domain
PF13673 - Acetyltransferase (GNAT) domain

SCOP Domains:
55729 - Acyl-CoA N-acyltransferases (Nat)

ModBase Predicted Comparative 3D Structure on P41227
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004596 peptide alpha-N-acetyltransferase activity
GO:0005515 protein binding
GO:0008080 N-acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:1990189 peptide-serine-N-acetyltransferase activity
GO:1990190 peptide-glutamate-N-acetyltransferase activity
GO:0016407 acetyltransferase activity
GO:0043022 ribosome binding

Biological Process:
GO:0006323 DNA packaging
GO:0006473 protein acetylation
GO:0006474 N-terminal protein amino acid acetylation
GO:0006475 internal protein amino acid acetylation
GO:0017198 N-terminal peptidyl-serine acetylation
GO:0018002 N-terminal peptidyl-glutamic acid acetylation
GO:2000719 negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0022626 cytosolic ribosome
GO:0031415 NatA complex


-  Descriptions from all associated GenBank mRNAs
  BC000308 - Homo sapiens ARD1 homolog A, N-acetyltransferase (S. cerevisiae), mRNA (cDNA clone MGC:8420 IMAGE:2820955), complete cds.
BC019312 - Homo sapiens ARD1 homolog A, N-acetyltransferase (S. cerevisiae), mRNA (cDNA clone MGC:4332 IMAGE:2820955), complete cds.
AY183134 - Homo sapiens N-acetyltransferase ARD1-like protein splice form 2 (ARD1) mRNA, complete sequence; alternatively spliced.
AY183135 - Homo sapiens N-acetyltransferase ARD1-like protein splice form 3 (ARD1) mRNA, complete sequence; alternatively spliced.
BC063377 - Homo sapiens ARD1 homolog A, N-acetyltransferase (S. cerevisiae), mRNA (cDNA clone MGC:71248 IMAGE:3050078), complete cds.
X77588 - H.sapiens TE2 mRNA for ARD-1 N-acetyltransferase homologue.
KJ892483 - Synthetic construct Homo sapiens clone ccsbBroadEn_01877 NAA10 gene, encodes complete protein.
AM392552 - Synthetic construct Homo sapiens clone IMAGE:100002040 for hypothetical protein (ARD1A gene).
AM393827 - Synthetic construct Homo sapiens clone IMAGE:100002059 for hypothetical protein (ARD1A gene).
AB528068 - Synthetic construct DNA, clone: pF1KE0423, Homo sapiens ARD1A gene for ARD1 homolog A, N-acetyltransferase, without stop codon, in Flexi system.
KJ901870 - Synthetic construct Homo sapiens clone ccsbBroadEn_11264 NAA10 gene, encodes complete protein.
AK296593 - Homo sapiens cDNA FLJ60638 complete cds, highly similar to N-terminal acetyltransferase complex ARD1 subunit homolog A (EC 2.3.1.88).
AK315997 - Homo sapiens cDNA, FLJ78896 complete cds, highly similar to N-terminal acetyltransferase complex ARD1 subunit homolog A (EC 2.3.1.88).
AK294081 - Homo sapiens cDNA FLJ60470 complete cds, highly similar to N-terminal acetyltransferase complex ARD1 subunit homolog A (EC 2.3.1.88).
AK309083 - Homo sapiens cDNA, FLJ99124.

-  Other Names for This Gene
  Alternate Gene Symbols: ARD1, ARD1A, NAA10_HUMAN, NM_003491, NP_003482, P41227, TE2, uc004fjm.1
UCSC ID: uc004fjm.2
RefSeq Accession: NM_003491
Protein: P41227 (aka NAA10_HUMAN)
CCDS: CCDS14737.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003491.3
exon count: 8CDS single in 3' UTR: no RNA size: 1136
ORF size: 708CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1616.00frame shift in genome: no % Coverage: 98.42
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.