RBCC Red Blood Cell Collection

NAA10_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NAA10 , ARD1, ARD1A, TE2
Protein names and data: NAA10_HUMAN , N-alpha-acetyltransferase 10; 2.3.1.-; 2.3.1.88 , N-terminal acetyltransferase complex ARD1 subunit homolog A; NatA catalytic subunit Lenght: 235 a.a.
Mass: 26459 Da
fasta formatted sequence
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.
Disease: ( OMIM: 300013 300855 ) 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.
Cellular 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.

Genetic variants

37 - 37 S -> P (in NATD; in vitro assays of protein function demonstrates 60 to 80% reduction in NAT activity of the mutant protein toward the in vivo substrate RPP30 protein; the activity toward the substrate HMGA1 protein is reduced by only 20%). VAR_066652

Database cross-references

UniProt: P41227
Ensembl: ENST00000370009
Ensembl: ENST00000464845
Ensembl: ENST00000596061
Ensembl: ENST00000596770
MIM: 300013
MIM: 300855
neXtProt: NX_P41227
Antibodypedia: P41227 (may not find the protein thus also not any antibody)
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