Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80155
Gene name Gene Name - the full gene name approved by the HGNC.
N-alpha-acetyltransferase 15, NatA auxiliary subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAA15
Synonyms (NCBI Gene) Gene synonyms aliases
Ga19, MRD50, NARG1, NAT1P, NATH, TBDN, TBDN100
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD50, TBDN
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.1
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
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0004596 Function Peptide alpha-N-acetyltransferase activity IBA 21873635
GO:0005515 Function Protein binding IPI 12145306, 15496142, 16507339, 24407287, 24981860, 25489052, 28514442, 32296183
GO:0005634 Component Nucleus IDA 12140756, 12145306
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608000 30782 ENSG00000164134
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Mental retardation Profound Mental Retardation, Mental deficiency, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
28191889
Associations from Text Mining
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