Gene

NAT8L

Species
Homo sapiens
Symbol
NAT8L
Name
N-acetyltransferase 8 like
Synonyms
  • camello-like protein 3
  • CML3
Biotype
protein coding gene
Automated Description
Enables aspartate N-acetyltransferase activity. Predicted to be involved in acetate metabolic process; aspartate metabolic process; and positive regulation of dopamine uptake involved in synaptic transmission. Located in mitochondrial membrane.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13947
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            2.060M2.061M2.062M2.063M2.064M2.065M2.066M2.067M2.068M2.069M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            NAT8L molecule type
            Interactor gene
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              Genetic Interactions

              NAT8L role
              NAT8L genetic perturbation
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