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
ID:NAA10_HUMAN DESCRIPTION: RecName: Full=N-alpha-acetyltransferase 10; EC=2.3.1.-; EC=188.8.131.52; 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.
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.
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.