Entity Details

Primary name NAT8L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N9F0
EntryNameNAT8L_HUMAN
FullNameN-acetylaspartate synthetase
TaxID9606
Evidenceevidence at protein level
Length302
SequenceStatuscomplete
DateCreated2007-10-02
DateModified2021-06-02

Ontological Relatives

GenesNAT8L

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0008080 N-acetyltransferase activity
GO:0009066 aspartate family amino acid metabolic process
GO:0016021 integral component of membrane
GO:0017188 aspartate N-acetyltransferase activity
GO:0030867 rough endoplasmic reticulum membrane
GO:0031966 mitochondrial membrane

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane
Microsome membrane
Mitochondrion membrane
Rough endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000182 GNAT domainDomainDomain
IPR016181 Acyl-CoA N-acyltransferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614063 OMIMN-acetylaspartate deficiency (NACED)A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
NAT8L_HUMANPEX19_HUMANBioGRID, IntAct32296183 details