Gene Gene information from NCBI Gene database.
Entrez ID 80155
Gene name N-alpha-acetyltransferase 15, NatA auxiliary subunit
Gene symbol NAA15
Synonyms (NCBI Gene)
Ga19MRD50NARG1NAT1PNATHTBDNTBDN100
Chromosome 4
Chromosome location 4q31.1
Summary 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.
18
SNP ID Visualize variation Clinical significance Consequence
rs779009256 AT>- Pathogenic Frameshift variant, coding sequence variant
rs886041097 C>G Pathogenic Coding sequence variant, stop gained
rs1274633498 C>T Pathogenic Coding sequence variant, stop gained
rs1380822792 CTTGA>- Pathogenic Coding sequence variant, frameshift variant
rs1553994814 A>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
889
miRTarBase ID miRNA Experiments Reference
MIRT005271 hsa-miR-16-5p pSILAC 18668040
MIRT004101 hsa-miR-124-3p Microarray 15685193
MIRT016209 hsa-miR-590-3p Sequencing 20371350
MIRT004101 hsa-miR-124-3p Microarray 18668037
MIRT004101 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 12145306, 15496142, 16507339, 16638120, 19480662, 24407287, 24981860, 25489052, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 12140756, 12145306
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608000 30782 ENSG00000164134
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXJ9
Protein name N-alpha-acetyltransferase 15, NatA auxiliary subunit (Gastric cancer antigen Ga19) (N-terminal acetyltransferase) (NMDA receptor-regulated protein 1) (Protein tubedown-1) (Tbdn100)
Protein function Auxillary subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase (NAT) activity (PubMed:15496142, PubMed:20154145, PubMed:29754825, PubMed:32042062). The NAT activity may be important for vascular, h
PDB 6C95 , 6C9M , 6PPL , 6PW9 , 9F1B , 9F1C , 9F1D , 9FPZ , 9FQ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 81 113 Tetratricopeptide repeat Repeat
PF12569 NARP1 187 698 NMDA receptor-regulated protein 1 Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in testis and in ocular endothelial cells. Also found in brain (corpus callosum), heart, colon, bone marrow and at lower levels in most adult tissues, including thyroid, liver, pancreas, mammary and salivary gl
Sequence
MPAVSLPPKENALFKRILRCYEHKQYRNGLKFCKQILSNPKFAEHGETLAMKGLTLNCLG
KKEEAYELVRRGLRNDLKSHVCWHVYGLLQRSDKKYDEAIKCYRNALKWDKDNLQILRDL
SLLQIQMRDLEGYRETRYQLLQLRPAQRASWIGYAIAYHLLEDYEMAAKILEEFRKTQQT
SPDKVDYEYSELLLYQNQVLREAGLYREALEHLCTYEKQICDKLAVEETKGELLLQLCRL
EDAADVYRGLQERNPENWAYYKGLEKALKPANMLERLKIYEEAWTKYPRGLVPRRLPLNF
LSGEKFKECLDKFLRMNFSKGCPPVFNTLRSLYKDKEKVAIIEELVVGYETSLKSCRLFN
PNDDGKEEPPTTLLWVQYYLAQHYDKIGQPSIALEYINTAIESTPTLIELFLVKAKIYKH
AGNIKEAARWMDEAQALDTADRFINSKCAKYMLKANLIKEAEEMCSKFTREGTSAVENLN
EMQCMWFQTECAQAYKAMNKFGEALKKCHEIERHFIEITDDQFDFHTYCMRKITLRSYVD
LLKLEDVLRQHPFYFKAARIAIEIYLKLHDNPLTDENKEHEADTANMSDKELKKLRNKQR
RAQKKAQIEEEKKNAEKEKQQRNQKKKKDDDDEEIGGPKEELIPEKLAKVETPLEEAIKF
LTPLKNLVKNKIETHLFAFEIYFRKEKFLLMLQSVKRA
FAIDSSHPWLHECMIRLFNTAV
CESKDLSDTVRTVLKQEMNRLFGATNPKNFNETFLKRNSDSLPHRLSAAKMVYYLDPSSQ
KRAIELATTLDESLTNRNLQTCMEVLEALYDGSLGDCKEAAEIYRANCHKLFPYALAFMP
PGYEEDMKITVNGDSSAEAEELANEI
Sequence length 866
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism Pathogenic rs2110935239 RCV001801253
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs779009256 RCV002463726
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual developmental disorder-50 with behavioral abnormalities (MRD50) Pathogenic rs1747866049 RCV001732081
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2530396336, rs779009256 RCV004018277
RCV005626149
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 29656860, 31127942 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29656860
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 12140756
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 33103328 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 33103328 Associate
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 29656860, 33103328 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 29621621
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 28990276, 33103328 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations