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Aliases for NAT8L Gene

Aliases for NAT8L Gene

  • N-Acetyltransferase 8 Like 2 3 5
  • N-Acetyltransferase 8-Like (GCN5-Related, Putative) 2 3
  • Camello-Like Protein 3 3 4
  • NAA Synthetase 3 4
  • Shati 2 3
  • CML3 3 4
  • N-Acetyltransferase 8-Like Protein 4
  • N-Acetylaspartate Synthetase 3
  • 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 Cytochrome P450 - arranged by substrate type and Alanine, aspartate and glutamate metabolism. GO annotations related to this gene include N-acetyltransferase activity and aspartate N-acetyltransferase activity. An important paralog of this gene is NAT8.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G002061 0.6 FANTOM5 5.2 +2.3 2322 0.4 HIC1 BCL11A MXD3 ZBTB33 C4orf48 ENSG00000250623 NAT8L ENSG00000270195 FGFR3 GC04P002062 PIR47482
GH04G001837 0.6 FANTOM5 dbSUPER 3.2 -222.3 -222284 0.2 NAT8L FGFR3 PIR36092 GC04M001823
GH04G002388 0.8 FANTOM5 1.8 +328.6 328624 0.3 HDGF ZNF175 UBTF RBBP5 ZIC2 ZNF316 ZFHX2 MAFK EGR2 L3MBTL2 ZFYVE28 LOC105374353 RNF4 ENSG00000251148 MXD4 SH3BP2 NAT8L PIR52561 PIR44270
GH04G002352 0.8 FANTOM5 ENCODE 1.8 +294.0 293976 1.1 ZNF121 PKNOX1 POLR2A SMARCA4 GLIS1 ZFYVE28 ENSG00000251148 MXD4 POLN HAUS3 RNF4 LOC105374353 ENSG00000250623 NAT8L LOC105374352
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000164912 -312 1201 HDAC1 RB1 KLF17 THRB RARA ZNF335 GLIS2 EGR1 PRPF4 ZEB2

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

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 :
  • Belongs to the camello family.
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

Gene Ontology (GO) - Molecular Function for NAT8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008080 N-acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0017188 aspartate N-acetyltransferase activity TAS,IEA --
genes like me logo Genes that share ontologies with NAT8L: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005737 cytoplasm IDA 19524112
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 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

Gene Ontology (GO) - Biological Process for NAT8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with NAT8L: view

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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for NAT8L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAT8L Gene:

NAT8L

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.

Evidence on tissue expression from TISSUES for NAT8L Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAT8L Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with NAT8L: view

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 34 35
  • 93.38 (n)
mouse
(Mus musculus)
Mammalia Nat8l 34 16 35
  • 90.19 (n)
rat
(Rattus norvegicus)
Mammalia Nat8l 34
  • 89.74 (n)
cow
(Bos Taurus)
Mammalia NAT8L 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAT8L 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAT8L 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAT8L 34 35
  • 78.1 (n)
lizard
(Anolis carolinensis)
Reptilia NAT8L 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nat8l 34
  • 68.15 (n)
zebrafish
(Danio rerio)
Actinopterygii nat8l 34 35
  • 66.08 (n)
sbcb562 34
Species where no ortholog for NAT8L was found in the sources mined by GeneCards:
  • 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
rs587777212 Pathogenic 2,059,723(+) CGCGG(-/GGCCGCCGGGGGGGCGCGG)CGTGT reference, frameshift-variant
rs1000010097 -- 2,067,085(+) TGAGT(C/T)GCTGC utr-variant-3-prime
rs1000192836 -- 2,060,158(+) CCTCC(C/T)GGGCA intron-variant
rs1000337597 -- 2,061,696(+) GCTGG(C/G)TCTGG intron-variant
rs1000588621 -- 2,065,845(+) ATTTT(C/G)TTGCA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv8907n54 CNV gain 21841781
dgv8908n54 CNV loss 21841781
dgv8909n54 CNV loss 21841781
esv21718 CNV loss 19812545
esv2677287 CNV deletion 23128226
esv2726835 CNV deletion 23290073
nsv1074133 CNV deletion 25765185
nsv1145019 CNV deletion 24896259
nsv593365 CNV loss 21841781
nsv593366 CNV gain+loss 21841781
nsv822441 CNV loss 20364138
nsv949757 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
NAT8L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. 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 64
  3. SHATI/NAT8L regulates neurite outgrowth via microtubule stabilization. (PMID: 24105954) Toriumi K. … Nabeshima T. (J. Neurosci. Res. 2013) 2 3 64
  4. Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabolism in the CNS. (PMID: 20385109) Ariyannur P.S. … Namboodiri A.M. (Brain Res. 2010) 3 4 64
  5. Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells. (PMID: 19524112) Arun P. … Namboodiri A.M. (Neurochem. Int. 2009) 3 4 64

Products for NAT8L Gene

Sources for NAT8L Gene

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