Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NAT8L Gene

Aliases for NAT8L Gene

  • N-Acetyltransferase 8 Like 2 3
  • N-Acetyltransferase 8-Like (GCN5-Related, Putative) 2 3 5
  • Camello-Like Protein 3 3 4
  • NAA Synthetase 3 4
  • Shati 2 3
  • CML3 3 4
  • N-Acetyltransferase 8-Like Protein 4
  • EC 2.3.1.17 4
  • NAT8-LIKE 3
  • NACED 3

External Ids for NAT8L Gene

Previous GeneCards Identifiers for NAT8L Gene

  • GC04P002031

Summaries for NAT8L Gene

Entrez Gene Summary for NAT8L 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]

GeneCards Summary for NAT8L Gene

NAT8L (N-Acetyltransferase 8 Like) is a Protein Coding gene. Diseases associated with NAT8L include n-acetylaspartate deficiency and canavan disease. Among its related pathways are Alanine, aspartate and glutamate metabolism and Metabolism. GO annotations related to this gene include N-acetyltransferase activity and aspartate N-acetyltransferase activity. An important paralog of this gene is NAT8B.

UniProtKB/Swiss-Prot for NAT8L Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAT8L Gene

Genomics for NAT8L Gene

Regulatory Elements for NAT8L Gene

Enhancers for NAT8L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NAT8L on UCSC Golden Path with GeneCards custom track

Promoters for NAT8L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NAT8L on UCSC Golden Path with GeneCards custom track

Genomic Location for NAT8L Gene

Chromosome:
4
Start:
2,059,512 bp from pter
End:
2,069,089 bp from pter
Size:
9,578 bases
Orientation:
Plus strand

Genomic View for NAT8L Gene

Genes around NAT8L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAT8L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAT8L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAT8L Gene

Proteins for NAT8L Gene

  • Protein details for NAT8L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9F0-NAT8L_HUMAN
    Recommended name:
    N-acetylaspartate synthetase
    Protein Accession:
    Q8N9F0

    Protein attributes for NAT8L Gene

    Size:
    302 amino acids
    Molecular mass:
    32837 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH93906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH93908.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI03749.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04426.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAM15218.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for NAT8L Gene

Proteomics data for NAT8L Gene at MOPED

Post-translational modifications for NAT8L Gene

No Post-translational modifications

Other Protein References for NAT8L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NAT8L Gene

Domains & Families for NAT8L Gene

Gene Families for NAT8L Gene

Protein Domains for NAT8L Gene

Suggested Antigen Peptide Sequences for NAT8L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9F0

UniProtKB/Swiss-Prot:

NAT8L_HUMAN :
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the camello family.
Domain:
  • Contains 1 N-acetyltransferase domain.
Family:
  • Belongs to the camello family.
genes like me logo Genes that share domains with NAT8L: view

Function for NAT8L Gene

Molecular function for NAT8L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + L-aspartate = CoA + N-acetyl-L-aspartate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By methamphetamine in brain, via dopamine receptor activation (at protein level).

Enzyme Numbers (IUBMB) for NAT8L Gene

genes like me logo Genes that share phenotypes with NAT8L: view

Human Phenotype Ontology for NAT8L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAT8L Gene

MGI Knock Outs for NAT8L:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NAT8L Gene

Localization for NAT8L Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAT8L Gene

Cytoplasm. Membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. Rough endoplasmic reticulum membrane; Single-pass membrane protein. Note=Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAT8L Gene COMPARTMENTS Subcellular localization image for NAT8L gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for NAT8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0030867 rough endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with NAT8L: view

Pathways & Interactions for NAT8L Gene

genes like me logo Genes that share pathways with NAT8L: view

Pathways by source for NAT8L Gene

1 BioSystems pathway for NAT8L Gene

Interacting Proteins for NAT8L Gene

Gene Ontology (GO) - Biological Process for NAT8L Gene

None

No data available for SIGNOR curated interactions for NAT8L Gene

Drugs & Compounds for NAT8L Gene

(2) Drugs for NAT8L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra NMDA agonist 0
Coenzyme A Nutra 0

(2) Additional Compounds for NAT8L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
N-Acetyl-L-aspartic acid
  • (2S)-2-acetamidobutanedioate
  • (2S)-2-acetamidobutanedioic acid
  • (S)-2-(acetylamino)butanedioate
  • (S)-2-(acetylamino)butanedioic acid
  • (S)-2-(acetylamino)succinic acid
997-55-7
genes like me logo Genes that share compounds with NAT8L: view

Transcripts for NAT8L Gene

mRNA/cDNA for NAT8L Gene

Unigene Clusters for NAT8L Gene

N-acetyltransferase 8-like (GCN5-related, putative):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAT8L Gene

No ASD Table

Relevant External Links for NAT8L Gene

GeneLoc Exon Structure for
NAT8L
ECgene alternative splicing isoforms for
NAT8L

Expression for NAT8L Gene

mRNA expression in normal human tissues for NAT8L Gene

mRNA differential expression in normal tissues according to GTEx for NAT8L Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.5), Brain - Putamen (basal ganglia) (x4.7), Brain - Nucleus accumbens (basal ganglia) (x4.5), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for NAT8L Gene

This gene is overexpressed in Frontal cortex (58.4) and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NAT8L Gene



SOURCE GeneReport for Unigene cluster for NAT8L Gene Hs.318529

mRNA Expression by UniProt/SwissProt for NAT8L Gene

Q8N9F0-NAT8L_HUMAN
Tissue specificity: Expressed in brain.
genes like me logo Genes that share expression patterns with NAT8L: view

Protein tissue co-expression partners for NAT8L Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for NAT8L Gene

Orthologs for NAT8L Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAT8L Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia NAT8L 35
  • 93.38 (n)
  • 94.7 (a)
NAT8L 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nat8l 35
  • 90.19 (n)
  • 93.31 (a)
Nat8l 16
Nat8l 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nat8l 35
  • 89.74 (n)
  • 93.65 (a)
cow
(Bos Taurus)
Mammalia NAT8L 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAT8L 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAT8L 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAT8L 35
  • 78.1 (n)
  • 80.23 (a)
NAT8L 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAT8L 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nat8l 35
  • 68.15 (n)
  • 70.67 (a)
zebrafish
(Danio rerio)
Actinopterygii nat8l 35
  • 66.08 (n)
  • 63.83 (a)
sbcb562 35
nat8l 36
  • 50 (a)
OneToOne
Species with no ortholog for NAT8L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAT8L Gene

ENSEMBL:
Gene Tree for NAT8L (if available)
TreeFam:
Gene Tree for NAT8L (if available)

Paralogs for NAT8L Gene

Paralogs for NAT8L Gene

(2) SIMAP similar genes for NAT8L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NAT8L: view

Variants for NAT8L Gene

Sequence variations from dbSNP and Humsavar for NAT8L Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs558749 -- 2,065,796(+) CCCCG(C/T)TGGGG utr-variant-3-prime
rs375117 -- 2,061,775(-) CCGGC(A/G)TGGGG intron-variant
rs376673 -- 2,068,005(-) CCACC(A/G)TGGCC utr-variant-3-prime
rs378300 -- 2,067,583(-) GGGTG(C/T)CCCAG utr-variant-3-prime
rs379233 -- 2,061,783(-) TGCGG(C/G)ATCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAT8L Gene

Variant ID Type Subtype PubMed ID
nsv878418 CNV Loss 21882294
nsv822441 CNV Loss 20364138
esv2726835 CNV Deletion 23290073
dgv5420n71 CNV Loss 21882294
esv2677287 CNV Deletion 23128226
esv21718 CNV Loss 19812545

Variation tolerance for NAT8L Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAT8L Gene

HapMap Linkage Disequilibrium report
NAT8L
Human Gene Mutation Database (HGMD)
NAT8L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAT8L Gene

Disorders for NAT8L Gene

MalaCards: The human disease database

(2) MalaCards diseases for NAT8L Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
n-acetylaspartate deficiency
  • hypoacetylaspartia
canavan disease
  • canavan-van bogaert-bertrand disease
- elite association - COSMIC cancer census association via MalaCards
Search NAT8L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAT8L_HUMAN
  • N-acetylaspartate deficiency (NACED) [MIM:614063]: A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. {ECO:0000269 PubMed:19807691}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NAT8L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAT8L
genes like me logo Genes that share disorders with NAT8L: view

No data available for Genatlas for NAT8L Gene

Publications for NAT8L Gene

  1. Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. (PMID: 19807691) Wiame E. … van Schaftingen E. (Biochem. J. 2010) 2 3 4 67
  2. SHATI/NAT8L regulates neurite outgrowth via microtubule stabilization. (PMID: 24105954) Toriumi K. … Nabeshima T. (J. Neurosci. Res. 2013) 2 3
  3. Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PMID: 11397015) Popsueva A.E. … Belyavsky A.V. (Dev. Biol. 2001) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Deletion of SHATI/NAT8L increases dopamine D1 receptor on the cell surface in the nucleus accumbens, accelerating methamphetamine dependence. (PMID: 24246274) Toriumi K. … Nabeshima T. (Int. J. Neuropsychopharmacol. 2014) 3

Products for NAT8L Gene

Sources for NAT8L Gene

Content