Homo sapiens Protein: NAT8L | |||||||||||
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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.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||
PDB ID | |||||||||||
InterPro |
IPR000182
GNAT domain IPR016181 Acyl-CoA N-acyltransferase |
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PFAM |
PF00583
PF13302 PF13508 PF13673 PF13718 |
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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 | ||||||||||