NAT8L
entrez
339983
canonical
uniprot
Q8N9F0
canonical
ensembl
ENSG00000185818
resolver
ensp
ENSP00000413064
resolver
enst
ENST00000423729
resolver
genesymbol
NAT8L
resolver
genesymbol_syn
CML3
resolver
hgnc
HGNC:26742
resolver
uniprot_entry
NAT8L_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria. {ECO:0000269|PubMed:20385109}.
uniprot
proteins
amino_acid_sequence
MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPVAQPHGGAGGAGPPGGRGVCIREFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLLYALLAALCFAVSRSLLLTCLVPAALLGLRYYYSRKVIRAYLECALHTDMADIEQYYMKPPGSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIAKALGRKVLEFAVVHNYSAVVLGTTAVKVAAHKLYESLGFRHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLREE
uniprot
proteins
disease_involvement
DISEASE: N-acetylaspartate deficiency (NACED) [MIM:614063]: A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. {ECO:0000269|PubMed:19807691}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.17
uniprot
proteins
function
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 expression (By similarity). Attenuates methamphetamine-induced inhibition of dopamine uptake (PubMed:20385109). {ECO:0000250|UniProtKB:Q3UGX3, ECO:0000269|PubMed:19524112, ECO:0000269|PubMed:19807691, ECO:0000269|PubMed:20385109}.
uniprot
proteins
mass_dalton
32837
uniprot
proteins
protein_family
NAT8 family
uniprot
proteins
pubmed
11397015
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146197
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19524112
uniprot
proteins
pubmed
19807691
uniprot
proteins
pubmed
20385109
uniprot
proteins
sequence_length
302
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19524112}. Microsome membrane {ECO:0000250|UniProtKB:D3ZVU9}; Single-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:19524112}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q3UGX3}; Single-pass membrane protein {ECO:0000255}. Note=Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment. {ECO:0000269|PubMed:19524112}.
uniprot
proteins
transmembrane_region
TRANSMEM 121..141; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins