Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8260
Gene name	N-alpha-acetyltransferase 10, NatA catalytic subunit
Gene symbol	NAA10
Synonyms (NCBI Gene)	ARD1ARD1AARD1PDXS707LZMSMAAMCOPS1NATDOGDNSTE2hARD1
Chromosome	X
Chromosome location	Xq28
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

Show/Hide all (21)

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
rs1057518018	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518605	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519448	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524031	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1342269961	T>C	Likely-pathogenic	3 prime UTR variant
rs1557107462	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557107528	A>C	Pathogenic	Missense variant, coding sequence variant
rs1557107543	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557107942	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557107957	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1569546255	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603289772	T>C	Likely-pathogenic	3 prime UTR variant
rs1603289774	T>C	Likely-pathogenic	3 prime UTR variant
rs1603290291	A>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1603290366	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603290816	G>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (19)

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 assayqRT-PCRWestern blot	26646451
MIRT732214	hsa-miR-342-5p	Luciferase reporter assayqRT-PCRWestern blot	26646451
MIRT732215	hsa-miR-608	Luciferase reporter assayqRT-PCRWestern blot	26646451
MIRT732215	hsa-miR-608	Luciferase reporter assayqRT-PCRWestern blot	26646451
MIRT1171335	hsa-miR-1227	CLIP-seq
MIRT1171336	hsa-miR-1825	CLIP-seq
MIRT1171337	hsa-miR-3150b-3p	CLIP-seq
MIRT1171338	hsa-miR-3611	CLIP-seq
MIRT1171339	hsa-miR-3677-3p	CLIP-seq
MIRT1171340	hsa-miR-4651	CLIP-seq
MIRT1171341	hsa-miR-4664-5p	CLIP-seq
MIRT1171342	hsa-miR-4689	CLIP-seq
MIRT1171343	hsa-miR-4710	CLIP-seq
MIRT1171344	hsa-miR-4779	CLIP-seq
MIRT1171345	hsa-miR-4784	CLIP-seq

Show/Hide all (33)

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
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7981673
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	15496142, 19480662, 25489052, 25732826
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006473	Process	Protein acetylation	IDA	27708256
GO:0006474	Process	N-terminal protein amino acid acetylation	IDA	15496142, 19480662, 25489052
GO:0006475	Process	Internal protein amino acid acetylation	TAS	7981673
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0008080	Function	N-acetyltransferase activity	TAS	7981673
GO:0008999	Function	Protein-N-terminal-alanine acetyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016407	Function	Acetyltransferase activity	IDA	15496142
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0031415	Component	NatA complex	IBA
GO:0031415	Component	NatA complex	IDA	19480662
GO:0031415	Component	NatA complex	IEA
GO:0031415	Component	NatA complex	IPI	15496142, 19480662
GO:0043022	Function	Ribosome binding	IDA	15496142, 19480662
GO:0051276	Process	Chromosome organization	TAS	7981673
GO:1990189	Function	Protein N-terminal-serine acetyltransferase activity	IBA
GO:1990189	Function	Protein N-terminal-serine acetyltransferase activity	IEA
GO:1990190	Function	Protein-N-terminal-glutamate acetyltransferase activity	IBA
GO:2000719	Process	Negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric	IDA	27422821

MIM	HGNC	e!Ensembl
300013	18704	ENSG00000102030

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
LYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGAIENKV
ESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS

Sequence length

235

Interactions

View interactions

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic; Likely pathogenic	rs797044868, rs878853264, rs1603290366, rs2065185202	RCV001257765 RCV000824880 RCV000851497 RCV001195646
Microphthalmia, syndromic 1	Pathogenic; Likely pathogenic	rs587776457, rs387906701, rs1603289774, rs1603289772, rs2065185202, rs2065171820	RCV000088650 RCV005055521 RCV001215737 RCV001215735 RCV002287477 RCV001249627
NAA10-related disorder	Likely pathogenic; Pathogenic	rs587780563, rs797044868	RCV004528848 RCV003401042
NAA10-related syndrome	Likely pathogenic; Pathogenic	rs878853264	RCV005868141
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2065185202	RCV001195297
Ogden syndrome	Pathogenic; Likely pathogenic	rs2065158556, rs2148535042, rs1557107264, rs587780562, rs587780563, rs863225427, rs797044868, rs878853263, rs878853264, rs1057519448, rs387906701, rs1557107462, rs1557107543, rs1557107528, rs1569546255 View all (4 more)	RCV001329086 RCV005868330 RCV001789830 RCV000128608 RCV000128609 RCV002283620 RCV000225365 RCV000202352 RCV000225366 RCV000225362 RCV000496143 RCV000416440 RCV000022818 RCV000655942 RCV000578409 RCV000623587 RCV000680044 RCV000789021 RCV000990994 RCV000990995 RCV001249627
See cases	Pathogenic	rs797044868	RCV002252040
Severe intellectual disability	Likely pathogenic; Pathogenic	rs2065185202	RCV001195161

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability, autosomal dominant	Likely benign	rs1057519620	RCV000437786
Kleine-Levin syndrome	Uncertain significance	rs2521339211	RCV002509902
Malignant lymphoma, large B-cell, diffuse	Benign	rs2269370	RCV005902154
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs2065169457	RCV005912477
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs910640135, rs781795806, rs2065162324	RCV005926206 RCV005931754 RCV005909298
Uterine carcinosarcoma	Benign	rs2269370	RCV005902155

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Carcinoma Renal Cell	Associate	33275221
Cardiomyopathy Hypertrophic	Associate	29748569
Cardiovascular Abnormalities	Associate	29748569, 31174490
Cleft Lip	Associate	33103328
Colorectal Neoplasms	Associate	20639454
Congenital Abnormalities	Associate	33103328
Constipation	Associate	36810866
Deglutition Disorders	Associate	36810866
Developmental Disabilities	Associate	24408909, 25099252, 27094817, 29748569, 31088393, 31174490, 32698785, 33103328, 33335012, 35039925
Diarrhea	Associate	36810866
Epilepsy	Associate	34200686
Esophageal Neoplasms	Associate	36433943
Facial Dysmorphism with Multiple Malformations	Associate	34200686, 35039925
Failure to Thrive	Associate	36810866
Familial cyclic vomiting syndrome	Associate	36810866
Fecal Incontinence	Associate	36810866
Frontotemporal Dementia	Associate	26522270
Gastroesophageal Reflux	Associate	36810866
Genetic Diseases Inborn	Associate	21700266, 29748569, 32698785
Genetic Diseases X Linked	Associate	21700266, 27094817, 27668839, 34200686
Growth Disorders	Associate	27094817, 34200686
Heart Diseases	Associate	27094817, 31174490, 32698785, 35039925
Heart Septal Defects	Associate	34200686
Hyperkinesis	Associate	32698785
Immunologic Deficiency Syndromes	Associate	27094817, 29748569
Intellectual Disability	Associate	23871722, 25099252, 26522270, 27094817, 29558889, 29748569, 31088393, 31127942, 31174490, 32698785, 33103328, 34200686, 35039925, 36810866
Language Development Disorders	Associate	32698785, 34200686
Leukemia Lymphocytic Chronic B Cell	Associate	12079511
Liver Neoplasms	Associate	12079511
Long QT Syndrome	Associate	26522270
Lung Neoplasms	Associate	21295525
Lymphatic Metastasis	Inhibit	21295525
Lymphoproliferative Syndrome X Linked 2	Associate	33335012
Mental Disorders	Associate	32698785
Mental Retardation X Linked 2	Associate	29558889
Microcephaly	Associate	27094817, 31174490
Microphthalmia syndromic 1	Associate	24431331, 26522270, 30842225, 31127942
Microphthalmia syndromic 2	Associate	30842225
Microphthalmos	Associate	30842225, 31127942, 37130971
Neoplasm Metastasis	Inhibit	21295525
Neoplasm Metastasis	Associate	36433943
Neoplasms	Associate	20639454, 32162442, 33275221, 36433943
Neoplasms	Inhibit	21295525
Nonsyndromic Holoprosencephaly	Associate	25099252, 26522270
Progressive hearing loss stapes fixation	Associate	35039925
Psychomotor Agitation	Associate	32698785
Renal Insufficiency	Associate	36810866
Respiratory System Abnormalities	Associate	32698785
Seizures	Associate	29656860
Squamous Cell Carcinoma of Head and Neck	Associate	34060226
Stomach Neoplasms	Associate	32377988
Tachycardia Ventricular	Associate	33103328
Thakker Donnai syndrome	Associate	33103328
Urinary Bladder Neoplasms	Associate	35669725
Ventricular Fibrillation	Associate	33103328
Vision Disorders	Associate	35039925, 37130971

NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit)