Gene Gene information from NCBI Gene database.
Entrez ID 339983
Gene name N-acetyltransferase 8 like
Gene symbol NAT8L
Synonyms (NCBI Gene)
CML3NACEDNAT8-LIKE
Chromosome 4
Chromosome location 4p16.3
Summary This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777212 GGCCGCCGGGGGGGCGCGG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
284
miRTarBase ID miRNA Experiments Reference
MIRT051308 hsa-miR-16-5p CLASH 23622248
MIRT050986 hsa-miR-17-5p CLASH 23622248
MIRT041507 hsa-miR-193b-3p CLASH 23622248
MIRT040445 hsa-miR-615-3p CLASH 23622248
MIRT036028 hsa-miR-1301-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IDA 19524112, 20385109
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610647 26742 ENSG00000185818
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N9F0
Protein name N-acetylaspartate synthetase (NAA synthetase) (EC 2.3.1.17) (Camello-like protein 3) (N-acetyltransferase 8-like protein)
Protein function Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA (PubMed:19524112, PubMed:19807691, PubMed:20385109). Promotes dopamine uptake by regulating TNF-alpha expression (By similarity). Attenuates methamphetamine-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 152 264 Acetyltransferase (GNAT) family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:19807691}.
Sequence
MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPV
AQPHGGAGGAGPPGGRGVCIREFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLL
YALLAALCFAVSRSLLLTCLVPAALLGLRYYYSRKVIRAYLECALHTDMADIEQYYMKPP
GSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIAKALGRKVLEFAVVHN
YSAVVLGTTAVKVAAHKLYESLGF
RHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLR
EE
Sequence length 302
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Uncertain significance rs771204097 RCV001252755
N-acetylaspartate deficiency no classifications from unflagged records rs587777212 RCV000088670
NAT8L-related disorder Benign; Likely benign rs183901937, rs369632714 RCV003982403
RCV003949383
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 26511490
Carcinoma Non Small Cell Lung Associate 26511490
Carcinoma Squamous Cell Stimulate 26511490
Neoplasms Associate 26511490