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Gene Gene information from NCBI Gene database.
Entrez ID 80218
Gene name N-alpha-acetyltransferase 50, NatE catalytic subunit
Gene symbol NAA50
Synonyms (NCBI Gene)
MAK3NAT13NAT13PNAT5NAT5PSANhNaa50p
Chromosome 3
Chromosome location 3q13.31
miRNA miRNA information provided by mirtarbase database.
1583 Show/Hide all (1583)
miRTarBase ID miRNA Experiments Reference
MIRT020825 hsa-miR-155-5p Proteomics 18668040
MIRT024728 hsa-miR-215-5p Microarray 19074876
MIRT026586 hsa-miR-192-5p Microarray 19074876
MIRT029581 hsa-miR-26b-5p Microarray 19088304
MIRT032326 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25 Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IDA 16507339, 17502424, 21900231, 22311970, 27484799
GO:0004596 Function Protein-N-terminal amino-acid acetyltransferase activity IMP 27422821
GO:0005515 Function Protein binding IPI 16507339, 19480662, 25416956, 25489052, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 25732826
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
610834 29533 ENSG00000121579
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZZ1
Protein name N-alpha-acetyltransferase 50 (hNaa50p) (EC 2.3.1.258) (N-acetyltransferase 13) (N-acetyltransferase 5) (hNAT5) (N-acetyltransferase san homolog) (hSAN) (N-epsilon-acetyltransferase 50) (EC 2.3.1.-) (NatE catalytic subunit)
Protein function N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine (PubMed:19744929, PubMed:21900231, PubMed:22311970, PubMed:27484799). Has a broad substrate specificity: able to acetylate the initiator
PDB 2OB0 , 2PSW , 3TFY , 4X5K , 6PPL , 6PW9 , 6WF3 , 6WF5 , 6WFG , 6WFK , 6WFN , 6WFO , 9F1B , 9F1C , 9F1D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 14 → 129 Acetyltransferase (GNAT) family Family
Sequence
Sequence length 169
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (19)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anhidrosis Anhidrosis BEFREE 28328124
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 34344401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT Cerebellar Ataxia, Deafness And Narcolepsy BEFREE 24727570
★★★★★
★☆☆☆☆
Found in Text Mining only
Color blindness Color Blindness BEFREE 6970528
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Pain Insensitivity Congenital Pain Insensitivity BEFREE 29949203
★★★★★
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 24727570
★★★★★
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 36076300 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies Hereditary sensory and autonomic neuropathy BEFREE 23931820, 24727570, 29226326
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 28328124
★★★★★
★☆☆☆☆
Found in Text Mining only
Narcolepsy Narcolepsy BEFREE 24727570
★★★★★
★☆☆☆☆
Found in Text Mining only