Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8260
Gene name Gene Name - the full gene name approved by the HGNC.
N-alpha-acetyltransferase 10, NatA catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAA10
Synonyms (NCBI Gene) Gene synonyms aliases
ARD1, ARD1A, ARD1P, DXS707, LZMS, MAA, MCOPS1, NATD, OGDNS, TE2, hARD1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906701 A>G Pathogenic Missense variant, coding sequence variant
rs587776457 A>T Pathogenic Splice donor variant
rs587780562 C>A Pathogenic Missense variant, coding sequence variant
rs863225427 T>G Pathogenic Missense variant, coding sequence variant
rs878853263 A>C,T Pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031471 hsa-miR-16-5p Proteomics 18668040
MIRT052136 hsa-let-7b-5p CLASH 23622248
MIRT045213 hsa-miR-186-5p CLASH 23622248
MIRT042605 hsa-miR-423-3p CLASH 23622248
MIRT732214 hsa-miR-342-5p Luciferase reporter assay, qRT-PCR, Western blot 26646451
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IDA 19480662
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IDA 25489052
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IEA
GO:0005515 Function Protein binding IPI 15496142, 16507339, 19480662, 21295525, 25416956, 25489052, 27708256, 28514442, 31515488, 32296183, 32814053, 33961781, 35156780, 36012204, 36442525
GO:0005634 Component Nucleus IDA 15496142, 25732826
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300013 18704 ENSG00000102030
Protein
UniProt ID P41227
Protein name N-alpha-acetyltransferase 10 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog A) (hARD1) (NatA catalytic subunit Naa10)
Protein 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, PubMe
PDB 6C95 , 6C9M , 6PPL , 6PW9 , 9F1B , 9F1C , 9F1D , 9FPZ , 9FQ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 13 128 Acetyltransferase (GNAT) family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12464182}.
Sequence
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKM
EEDPDDVPHGHITSLAVKRSHRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALH
LYSNTLNF
QISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGAIENKV
ESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS
Sequence length 235
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1603290366 N/A
Ogden Syndrome ogden syndrome rs1557107543, rs1557107528, rs1569546255, rs387906701, rs1603290816, rs587780562, rs863225427, rs1603290291, rs878853263, rs1557107942, rs1057519448, rs1557107462 N/A
Syndromic microphthalmia microphthalmia, syndromic 1 rs1603289774, rs387906701, rs1603289772, rs587776457 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microphthalmia microphthalmia, Lenz type N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 34200686
Anophthalmos Associate 30842225
Arthrogryposis multiplex congenita distal X linked Associate 29656860
Atrophy Associate 33335012
Attention Deficit Disorder with Hyperactivity Associate 31174490
Autism Spectrum Disorder Associate 31127942
Autistic Disorder Associate 34200686
Brain Diseases Associate 35039925
Breast Neoplasms Associate 26663084, 32162442
Carcinoma Hepatocellular Associate 12079511