ARD1A
entrez
8260
canonical
uniprot
P41227
canonical
ensembl
ENSG00000102030
resolver
ensp
ENSP00000359026
resolver
ensp
ENSP00000417763
resolver
genesymbol
ARD1A
resolver
genesymbol
NAA10
resolver
genesymbol_syn
ARD1
resolver
genesymbol_syn
ARD1A
resolver
genesymbol_syn
TE2
resolver
hgnc
HGNC:18704
resolver
uniprot
A6NM98
resolver
uniprot
B7Z9N2
resolver
uniprot_entry
B7Z9N2_HUMAN
resolver
uniprot_entry
NAA10_HUMAN
resolver
uniprot_sec
A6NM98
resolver
amino_acid_sequence
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRSHRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21700266, ECO:0000269|PubMed:25489052, ECO:0000269|PubMed:26522270, ECO:0000269|PubMed:31174490}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:24431331}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.255
uniprot
proteins
function
FUNCTION: Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19420222, PubMed:19826488, PubMed:20145209, PubMed:20154145, PubMed:25489052, PubMed:27708256, PubMed:29754825, PubMed:32042062). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase 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 (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acetylates HIST1H4A (PubMed:29754825). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821). {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:15496142, ECO:0000269|PubMed:19420222, ECO:0000269|PubMed:19826488, ECO:0000269|PubMed:20145209, ECO:0000269|PubMed:20154145, ECO:0000269|PubMed:25489052, ECO:0000269|PubMed:27422821, ECO:0000269|PubMed:27708256, ECO:0000269|PubMed:29754825, ECO:0000269|PubMed:32042062}.
uniprot
proteins
mass_dalton
26459
uniprot
proteins
mutagenesis
MUTAGEN 136; /note="K->R: Loss of its ability to acetylate HSPA1A and HSPA1B."; /evidence="ECO:0000269|PubMed:27708256"; MUTAGEN 209; /note="S->A: Abolishes phosphorylation by IKKB and reduces cell growth."; /evidence="ECO:0000269|PubMed:19716809
uniprot
proteins
post_translational_modification
PTM: Cleaved by caspases during apoptosis.; PTM: Phosphorylation by IKBKB/IKKB at Ser-209 promotes its proteasome-mediated degradation. {ECO:0000269|PubMed:19716809}.; PTM: Autoacetylated at Lys-136 which stimulates its catalytic activity. {ECO:0000269|PubMed:27708256}.
uniprot
proteins
protein_family
ARD1 subfamily
uniprot
proteins
protein_family
Acetyltransferase family
uniprot
proteins
pubmed
12464182
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15496142
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16507339
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19420222
uniprot
proteins
pubmed
19480662
uniprot
proteins
pubmed
19660095
uniprot
proteins
pubmed
19716809
uniprot
proteins
pubmed
19826488
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20145209
uniprot
proteins
pubmed
20154145
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21700266
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24431331
uniprot
proteins
pubmed
25489052
uniprot
proteins
pubmed
25732826
uniprot
proteins
pubmed
26522270
uniprot
proteins
pubmed
27422821
uniprot
proteins
pubmed
27708256
uniprot
proteins
pubmed
29754825
uniprot
proteins
pubmed
31174490
uniprot
proteins
pubmed
32042062
uniprot
proteins
pubmed
7981673
uniprot
proteins
sequence_length
235
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:25489052, ECO:0000269|PubMed:25732826}. Nucleus {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:15496142, ECO:0000269|PubMed:25732826}. Note=Also present in the free cytosolic and cytoskeleton-bound polysomes. {ECO:0000269|PubMed:15496142}.
uniprot
proteins