InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NAA10

Summary

InnateDB Protein

IDBP-484870.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NAA10

Protein Name

N(alpha)-acetyltransferase 10, NatA catalytic subunit

Synonyms

ARD1; ARD1A; ARD1P; DXS707; MCOPS1; NATD; TE2;

Species

Homo sapiens

Ensembl Protein

ENSP00000417763

InnateDB Gene

IDBG-90615 (NAA10)

Protein Structure

UniProt Annotation

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. Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development. {ECO:0000269PubMed:12464182, ECO:0000269PubMed:15496142, ECO:0000269PubMed:19826488, ECO:0000269PubMed:20145209}.

Subcellular Localization

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.

Disease Associations

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. {ECO:0000269PubMed:21700266}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia, syndromic, 1 (MCOPS1) [MIM:309800]: A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals. {ECO:0000269PubMed:24431331}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:12464182}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004596	peptide alpha-N-acetyltransferase activity
GO:0005515	protein binding
GO:0008080	N-acetyltransferase activity
GO:0016407	acetyltransferase activity
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups
GO:0043022	ribosome binding