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NAT8L (N-acetyltransferase 8 like)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
339983
Gene nameGene Name - the full gene name approved by the HGNC.
N-acetyltransferase 8 like
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NAT8L
SynonymsGene synonyms aliases
CML3, NACED, NAT8-LIKE
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
SummarySummary 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-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs587777212 GGCCGCCGGGGGGGCGCGG>- Pathogenic Frameshift variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT036028 hsa-miR-1301-3p CLASH 23622248
MIRT040445 hsa-miR-615-3p CLASH 23622248
MIRT041507 hsa-miR-193b-3p CLASH 23622248
MIRT050986 hsa-miR-17-5p CLASH 23622248
MIRT051308 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IDA 19524112, 20385109
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
GO:0008080 Function N-acetyltransferase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
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 Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1
152 → 264
Acetyltransferase (GNAT) family
 Family
Sequence 
MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPV
AQPHGGAGGAGPPGGRGVCIREFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLL
YALLAALCFAVSRSLLLTCLVPAALLGLRYYYSRKVIRAYLECALHTDMADIEQYYMKPP
GSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIAKALGRKVLEFAVVHN
YSAVVLGTTAVKVAAHKLYESLGFRHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLR
EE
Sequence length 302
Interactions View interactions

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