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NAT8L Gene

protein-coding   GIFtS: 45
GCID: GC04P002061

N-Acetyltransferase 8-Like (GCN5-Related, Putative)

(Previous name: N-acetyltransferase 8-like)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Acetyltransferase 8-Like (GCN5-Related, Putative)1 2     N-Acetyltransferase 8-Like1
CML32 3 5     NAT8-LIKE2
Camello-Like Protein 32 3     N-Acetylaspartate Synthetase2
NAA Synthetase2 3     EC 2.3.1.173
NACED2 5     N-Acetyltransferase 8-Like Protein3

External Ids:    HGNC: 267421   Entrez Gene: 3399832   Ensembl: ENSG000001858187   OMIM: 6106475   UniProtKB: Q8N9F03   

Export aliases for NAT8L gene to outside databases

Previous GC identifer: GC04P002031


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (GCN5-related, putative)) is a protein-coding gene. Diseases associated with NAT8L include n-acetylaspartate deficiency, and microcephaly. GO annotations related to this gene include aspartate N-acetyltransferase activity. An important paralog of this gene is NAT8.

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006051.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the NAT8L gene promoter:
         Max1   ER-alpha   HSF1 (long)   LCR-F1   Egr-4   Roaz   MZF-1   Pax-3   HSF1short   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NAT8L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NAT8L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

NAT8L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAT8L gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P002061:  view genomic region     (about GC identifiers)

Start:
2,061,239 bp from pter      End:
2,070,816 bp from pter
Size:
9,578 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0 (See protein sequence)
Recommended Name: N-acetylaspartate synthetase  
Size: 302 amino acids; 32837 Da
Sequence caution: Sequence=AAH93906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH93908.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI03749.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04426.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAM15218.1; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for NAT8L: NX_Q8N9F0

Explore proteomics data for NAT8L at MOPED


See NAT8L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_848652.2  
ENSEMBL proteins: 
 ENSP00000328464   ENSP00000413064  

NAT8L Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for NAT8L
OriGene Custom MassSpec
OriGene Custom Protein Services for NAT8L
GenScript Custom Purified and Recombinant Proteins Services for NAT8L
Novus Biologicals NAT8L Protein
Novus Biologicals NAT8L Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for NAT8L

NAT8L Antibody Products:

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OriGene Custom Antibody Services for NAT8L
Novus Biologicals NAT8L Antibodies
Abcam antibodies for NAT8L
Cloud-Clone Corp. Antibodies for NAT8L
Search ThermoFisher Antibodies for NAT8L
Search LSBio for Antibodies for NAT8L

NAT8L Assay Products:

Browse Kits and Assays available from EMD Millipore
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GenScript Custom Assay Services for NAT8L
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for NAT8L
Cloud-Clone Corp. CLIAs for NAT8L


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR000182 GNAT_dom
 IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q8N9F0

ProtoNet protein and cluster: Q8N9F0

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Similarity: Belongs to the camello family
Similarity: Contains 1 N-acetyltransferase domain


NAT8L for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NAT8L_HUMAN, Q8N9F0
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
Catalytic activity: Acetyl-CoA + L-aspartate = CoA + N-acetyl-L-aspartate
Enzyme regulation: Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria
Induction: By methamphetamine in brain, via dopamine receptor activation (at protein level)

     Enzyme Number (IUBMB): EC 2.3.1.171

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008080N-acetyltransferase activity ----
GO:0017188aspartate N-acetyltransferase activity IDA19524112
     
NAT8L for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for NAT8L:
 Increased gamma-H2AX phosphory  Increased number of cells in m 

     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nat8l):
 behavior/neurological 

NAT8L for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Nat8ltm1Atni for NAT8L

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NAT8L
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NAT8L

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NAT8L
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NAT8L

miRNA
Products:
    
miRTarBase miRNAs that target NAT8L:
hsa-mir-16-5p (MIRT051308), hsa-mir-17-5p (MIRT050986), hsa-mir-615-3p (MIRT040445), hsa-mir-193b-3p (MIRT041507), hsa-mir-1301-3p (MIRT036028)

Block miRNA regulation of human, mouse, rat NAT8L using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NAT8L (see all 76):
hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-759 hsa-miR-3916 hsa-miR-3148 hsa-miR-34c-5p hsa-miR-548o
SwitchGear 3'UTR luciferase reporter plasmidNAT8L 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for NAT8L
Predesigned siRNA for gene silencing in human, mouse, rat NAT8L

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for NAT8L

Clone
Products:
     
OriGene clones in human, mouse for NAT8L (see all 7)
OriGene ORF clones in mouse, rat for NAT8L
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NAT8L (NM_178557)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAT8L
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT8L

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for NAT8L
Browse ESI BIO Cell Lines and PureStem Progenitors for NAT8L 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAT8L


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NAT8L_HUMAN, Q8N9F0: Cytoplasm. Membrane; Single-pass membrane protein (Potential). Microsome membrane;
Single-pass membrane protein (By similarity). Mitochondrion membrane; Single-pass membrane protein. Rough
endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Note=Its enzymatic activity
contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
mitochondrion5
extracellular2
cytosol1
lysosome1
peroxisome1
plasma membrane1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA19524112
GO:0005789endoplasmic reticulum membrane ----
GO:0016021integral component of membrane IEA--
GO:0030867rough endoplasmic reticulum membrane IEA--
GO:0031966mitochondrial membrane IDA19524112

NAT8L for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NAT8L About                                                                                                See pathways by source

SuperPathContained pathways About
1Biological oxidations
metapathway biotransformation0.42


1 BioSystems Pathway for NAT8L
    metapathway biotransformation


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NAT8L
Interactions:

    Search GeneGlobe Interaction Network for NAT8L

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

Selected Interacting proteins for NAT8L (ENSP000003284644) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
InteractantInteraction Details
GeneCardExternal ID(s)
NAA35ENSP000003549724STRING: ENSP00000354972
RPS3ENSP000002785724STRING: ENSP00000278572
XRN1ENSP000002649514STRING: ENSP00000264951
USO1ENSP000004116984STRING: ENSP00000411698
UBE2FENSP000002729304STRING: ENSP00000272930
About this table

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008152metabolic process IDA19524112
GO:0051586positive regulation of dopamine uptake involved in synaptic transmission IEA--

NAT8L for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NAT8L



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NAT8L gene: 
NM_178557.3  

Unigene Cluster for NAT8L:

N-acetyltransferase 8-like (GCN5-related, putative)
Hs.318529  [show with all ESTs]
Unigene Representative Sequence: NM_178557
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000331662 ENST00000423729(uc003geq.2)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat NAT8L using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NAT8L (see all 76):
hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-759 hsa-miR-3916 hsa-miR-3148 hsa-miR-34c-5p hsa-miR-548o
SwitchGear 3'UTR luciferase reporter plasmidNAT8L 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for NAT8L
Predesigned siRNA for gene silencing in human, mouse, rat NAT8L
Clone
Products:
     
OriGene clones in human, mouse for NAT8L (see all 7)
OriGene ORF clones in mouse, rat for NAT8L
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NAT8L (NM_178557)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAT8L
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT8L
Primer
Products:
    
OriGene qPCR primer pairs and template standards for NAT8L
OriGene qSTAR qPCR primer pairs in human, mouse for NAT8L
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NAT8L
  QuantiTect SYBR Green Assays in human, mouse, rat NAT8L
  QuantiFast Probe-based Assays in human, mouse, rat NAT8L

Additional mRNA sequence: 

AK094797.1 AL137326.1 AL137444.1 BC010045.2 BC093906.1 BC093908.1 BC103748.1 

3 DOTS entries:

DT.425156  DT.92037245  DT.100657725 

Selected AceView cDNA sequences (see all 90):

BG222544 BQ926344 AI871391 BM692785 AI565540 AL137326 BQ950958 BE222771 
BF363480 BM557912 BI918419 BU850310 CA406507 AL137444 BC010045 CD105803 
BM670056 AA527169 BE261975 BM474834 AI890566 BV179538 BE378463 BE275376 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NAT8L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGTGCGAGTG
NAT8L Expression
About this image

NAT8L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NAT8L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.318529

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Tissue specificity: Expressed in brain

    Custom PCR Arrays for NAT8L
Primer
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OriGene qPCR primer pairs and template standards for NAT8L
OriGene qSTAR qPCR primer pairs in human, mouse for NAT8L
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NAT8L
QuantiTect SYBR Green Assays in human, mouse, rat NAT8L
QuantiFast Probe-based Assays in human, mouse, rat NAT8L
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAT8L

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for NAT8L gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nat8l1 , 5 N-acetyltransferase 8-like1, 5 90.19(n)1
93.31(a)1
  5 (17.83 cM)5
2696421  NM_001001985.31  NP_001001985.31 
 339959845 
chicken
(Gallus gallus)
Aves NAT8L1 N-acetyltransferase 8-like (GCN5-related, putative) 78.1(n)
80.23(a)
  422893  XM_420835.4  XP_420835.4 
lizard
(Anolis carolinensis)
Reptilia NAT8L6
N-acetyltransferase 8-like (GCN5-related, putative...
65(a)
1 ↔ 1
GL343297.1(193594-236383)
tropical clawed frog
(Xenopus tropicalis)
Amphibia nat8l1 N-acetyltransferase 8-like (GCN5-related, putative) 68.15(n)
70.67(a)
  100124940  NM_001102880.1  NP_001096350.1 
zebrafish
(Danio rerio)
Actinopterygii sbcb5622 sbcb562 78.21(n)   368296  BI428117.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NAT8L gene
NAT82  
2 SIMAP similar genes for NAT8L using alignment to 1 protein entry:     NAT8L_HUMAN:
NAT8B    NAT8

NAT8L for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NAT8L (see all 204)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1409529141,2
--2000546(+) CCATGC/TGGGGT 1 -- us2k10--------
rs1501928151,2
--2000722(+) GAGTAC/TAGGGC 1 -- us2k10--------
rs1917389961,2
--2000746(+) CCCCAA/CTCACG 1 -- us2k10--------
rs1465304941,2
C--2000838(+) TGTTCC/TTGGAA 1 -- us2k10--------
rs1411269801,2
--2001005(+) TCCACA/GCTGCA 1 -- us2k10--------
rs1448350231,2
--2001383(+) CGCATG/TTCGGG 1 -- us2k10--------
rs351776081,2
C,F--2001537(-) CTTGTA/GGGACC 1 -- us2k14Minor allele frequency- G:0.12NA 126
rs31351601,2
C,H--2003068(-) CACACT/CGCTTC 1 -- int17Minor allele frequency- C:0.38WA NA EA 366
rs1130046101,2
F--2003242(+) CGGGGA/CAGCTC 1 -- int11Minor allele frequency- C:0.00CSA 1
rs783246891,2
--2003542(+) GCCGCA/GCCGCT 1 -- int10--------

HapMap Linkage Disequilibrium report for NAT8L (2061239 - 2070816 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for NAT8L:    About this table    
Variant IDTypeSubtypePubMed ID
esv2677287CNV Deletion23128226
esv2726835CNV Deletion23290073
dgv5420n71CNV Loss21882294
nsv822441CNV Loss20364138
esv21718CNV Loss19812545
nsv878418CNV Loss21882294

Human Gene Mutation Database (HGMD): NAT8L
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NAT8L
DNA2.0 Custom Variant and Variant Library Synthesis for NAT8L

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610647   
OMIM disorders: 614063  
UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
  • N-acetylaspartate deficiency (NACED) [MIM:614063]: A metabolic disorder resulting in truncal ataxia,
    marked developmental delay, seizures, and secondary microcephaly. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for NAT8L:    About MalaCards
    n-acetylaspartate deficiency    microcephaly    neuroblastoma    ataxia
    neuronitis    multiple myeloma    myeloma


    NAT8L for disorders           About GeneDecksing


    Export disorders for NAT8L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NAT8L gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with NAT8L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PubMed id 11397015)1, 2, 3 Popsueva A.E....Belyavsky A.V. (Dev. Biol. 2001)
    2. Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabolism in the CNS. (PubMed id 20385109)1, 2 Ariyannur P.S.... Namboodiri A.M. (Brain Res. 2010)
    3. Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. (PubMed id 19807691)1, 2 Wiame E.... van Schaftingen E. (Biochem. J. 2010)
    4. Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells. (PubMed id 19524112)1, 2 Arun P.... Namboodiri A.M. (Neurochem. Int. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. NAT8L (N-acetyltransferase 8-like) accelerates lipid turnover and increases energy expenditure in brown adipocytes. (PubMed id 24155240)1 Pessentheiner A.R....Bogner-Strauss J.G. (J. Biol. Chem. 2013)
    7. Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase. (PubMed id 21936773)1 Tahay G....Van Schaftingen E. (Biochem. J. 2012)
    8. Molecular characterization of N-acetylaspartylglutamate synthetase. (PubMed id 20643647)1 Becker I....Eckhardt M. (J. Biol. Chem. 2010)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 339983 HGNC: 26742 AceView: FLJ37478 Ensembl:ENSG00000185818 euGenes: HUgn339983
    ECgene: NAT8L H-InvDB: NAT8L

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NAT8L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for NAT8L gene:
    Search GeneIP for patents involving NAT8L

    GeneCards and IP:
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