NAT8L

Protein identityUniProt · HPA

UniProt accession

Q8N9F0

Gene

NAT8L

Ensembl

ENSG00000185818

Chromosome

4

Canonical length

302 aa

Protein class

Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

302 residues, UniProt reviewed canonical sequence.

>Q8N9F0|NAT8L
     1  MHCGPPDMVC ETKIVAAEDH EALPGAKKDA LLAAAGAMWP PLPAAPGPAA APPAPPPAPV
    61  AQPHGGAGGA GPPGGRGVCI REFRAAEQEA ARRIFYDGIM ERIPNTAFRG LRQHPRAQLL
   121  YALLAALCFA VSRSLLLTCL VPAALLGLRY YYSRKVIRAY LECALHTDMA DIEQYYMKPP
   181  GSCFWVAVLD GNVVGIVAAR AHEEDNTVEL LRMSVDSRFR GKGIAKALGR KVLEFAVVHN
   241  YSAVVLGTTA VKVAAHKLYE SLGFRHMGAS DHYVLPGMTL SLAERLFFQV RYHRYRLQLR
   301  EE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAT8L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

93 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAT8L.

Disease | AllUniProt

Conditions NAT8L is implicated in, by any mechanism.

• N-acetylaspartate deficiency (NACED) MIM:614063

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.46

gnomAD pLI

0.86

gnomAD missense Z

2.15

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-amino acid metabolic process

Molecular functions

• L-aspartate N-acetyltransferase activity

Cellular components

• cytoplasm
• endoplasmic reticulum membrane
• mitochondrial matrix
• mitochondrial membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• GNAT domain
• Acyl-CoA N-acyltransferase
• N-acetyltransferase, camello-type
• Acetyltransferase (GNAT) family

KeywordsUniProt

• Acyltransferase
• Cytoplasm
• Endoplasmic reticulum
• Membrane
• Microsome
• Mitochondrion
• Transferase
• Transmembrane
• Transmembrane helix