Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
339983
Gene name Gene Name - the full gene name approved by the HGNC.
N-acetyltransferase 8 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAT8L
Synonyms (NCBI Gene) Gene synonyms aliases
CML3, NACED, NAT8-LIKE
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs587777212 GGCCGCCGGGGGGGCGCGG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610647 26742 ENSG00000185818
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alanine, aspartate and glutamate metabolism
Metabolic pathways
  Aspartate and asparagine metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
N-Acetylaspartate Deficiency n-acetylaspartate deficiency rs587777212 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease 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