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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
158
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism Pathogenic rs2110935239 RCV001801253
Global developmental delay Likely pathogenic; Pathogenic rs779009256 RCV002463726
intellectual developmental disorder-50 with behavioral abnormalities (MRD50) Pathogenic rs1747866049 RCV001732081
Intellectual disability Likely pathogenic; Pathogenic rs2530396336, rs779009256 RCV004018277
RCV005626149
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs116034207 RCV005924828
Autism spectrum disorder Uncertain significance rs1332992306 RCV003127998
Clear cell carcinoma of kidney Benign; Likely benign rs371230256 RCV005921010
Developmental disorder Uncertain significance rs2110941246 RCV001843809
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 29656860, 31127942
Cardiomyopathy Hypertrophic Associate 33103328
Cleft Lip Associate 33103328
Congenital Abnormalities Associate 29656860, 33103328
Developmental Disabilities Associate 28990276, 33103328
Facial Pain Associate 29656860
Growth Disorders Associate 35185781
Heart hand syndrome Spanish type Associate 29656860
Hypersensitivity Delayed Associate 29656860
Intellectual Disability Associate 28990276, 29656860, 33103328