Homo sapiens Protein: NAT8L
Summary
InnateDB Protein IDBP-360947.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NAT8L
Protein Name N-acetyltransferase 8-like (GCN5-related, putative)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000413064
InnateDB Gene IDBG-7315 (NAT8L)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:19524112}.
Subcellular Localization Cytoplasm. Membrane {ECO:0000305}; Single- pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Mitochondrion membrane; Single-pass membrane protein. Rough endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment.
Disease Associations N-acetylaspartate deficiency (NACED) [MIM:614063]: A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. {ECO:0000269PubMed:19807691}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in brain. {ECO:0000269PubMed:19807691}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008080 N-acetyltransferase activity
GO:0017188 aspartate N-acetyltransferase activity
Biological Process
GO:0008152 metabolic process
GO:0051586 positive regulation of dopamine uptake involved in synaptic transmission
Cellular Component
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0030867 rough endoplasmic reticulum membrane
GO:0031966 mitochondrial membrane
Protein Structure and Domains
PDB ID
InterPro IPR000182 GNAT domain
IPR016181 Acyl-CoA N-acyltransferase
PFAM PF00583
PF13302
PF13508
PF13673
PF13718
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N9F0
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 339983
UniGene Hs.318529
RefSeq NP_848652
HUGO HGNC:26742
OMIM 610647
CCDS CCDS3359
HPRD 08224
IMGT
EMBL AK094797 AL132868 BC093906 BC093908 BC103748 CN256164
GenPept AAH93906 AAH93908 AAI03749 BAC04426 CAM15218