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Metazoan complexes |
Emili & Marcotte labs |
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Details of NAA10 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| NAA10 | ARD1,ARD1A,TE2 | P41227 | NAA10_HUMAN | 8260 | ENSG00000102030 ENSG00000268281 | N-alpha-acetyltransferase 10 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
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. | 300855 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Naa10 | vnc | K07H8.3 | SPU_017973 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
YARS | NAA10 | 0.183023684 | YARS | NAA10 | cpx86 | no | no | no | Novel |
NAA10 | NAA15 | 0.92366965 | NAA10 | NAA15 | cpx86 | no | yes | yes | Known |
NAA10 | NAA16 | 0.955546706 | NAA10 | NAA16 | cpx86 | no | yes | yes | Known |