Human Gene NAT8L (uc003geq.2)
  Description: Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.
RefSeq Summary (NM_178557): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly.
Transcript (Including UTRs)
   Position: hg19 chr4:2,061,239-2,070,816 Size: 9,578 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr4:2,061,239-2,065,854 Size: 4,616 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:2,061,239-2,070,816)mRNA (may differ from genome)Protein (302 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAT8L_HUMAN
DESCRIPTION: RecName: Full=N-acetylaspartate synthetase; Short=NAA synthetase; EC=2.3.1.17; AltName: Full=Camello-like protein 3; AltName: Full=N-acetyltransferase 8-like protein;
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.
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Expressed in brain.
INDUCTION: By methamphetamine in brain, via dopamine receptor activation (at protein level).
DISEASE: Defects in NAT8L are the cause of N-acetylaspartate deficiency (NACED) [MIM:614063]. A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly.
SIMILARITY: Belongs to the camello family.
SIMILARITY: Contains 1 N-acetyltransferase domain.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAT8L
Diseases sorted by gene-association score: n-acetylaspartate deficiency* (969), canavan disease (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 78.59 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 680.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -2560.934962-0.516 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR000182 - GNAT_dom

Pfam Domains:
PF00583 - Acetyltransferase (GNAT) family
PF13508 - Acetyltransferase (GNAT) domain
PF13673 - Acetyltransferase (GNAT) domain

SCOP Domains:
55729 - Acyl-CoA N-acyltransferases (Nat)

ModBase Predicted Comparative 3D Structure on Q8N9F0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0017188 aspartate N-acetyltransferase activity

Biological Process:
GO:0008652 cellular amino acid biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030867 rough endoplasmic reticulum membrane
GO:0031090 organelle membrane
GO:0031966 mitochondrial membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  JA482228 - Sequence 211 from Patent WO2011072091.
JE980520 - Sequence 211 from Patent EP2862929.
BC103748 - Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative), mRNA (cDNA clone MGC:117272 IMAGE:6195512), complete cds.
AK094797 - Homo sapiens cDNA FLJ37478 fis, clone BRAWH2013219, weakly similar to Homo sapiens N-acetyltransferase Camello 2 (CML2) mRNA.
BC093908 - Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative), mRNA (cDNA clone MGC:120943 IMAGE:7939753), complete cds.
BC093906 - Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative), mRNA (cDNA clone MGC:120941 IMAGE:7939751), complete cds.
KJ904200 - Synthetic construct Homo sapiens clone ccsbBroadEn_13594 NAT8L gene, encodes complete protein.
JD056246 - Sequence 37270 from Patent EP1572962.
JD460583 - Sequence 441607 from Patent EP1572962.
JD123378 - Sequence 104402 from Patent EP1572962.
JD271088 - Sequence 252112 from Patent EP1572962.
JD364055 - Sequence 345079 from Patent EP1572962.
JD218520 - Sequence 199544 from Patent EP1572962.
JD427498 - Sequence 408522 from Patent EP1572962.
JD282970 - Sequence 263994 from Patent EP1572962.
JD477338 - Sequence 458362 from Patent EP1572962.
JD399564 - Sequence 380588 from Patent EP1572962.
JD465367 - Sequence 446391 from Patent EP1572962.
JD420525 - Sequence 401549 from Patent EP1572962.
JD486067 - Sequence 467091 from Patent EP1572962.
JD381664 - Sequence 362688 from Patent EP1572962.
JD487376 - Sequence 468400 from Patent EP1572962.
JD335470 - Sequence 316494 from Patent EP1572962.
JD456938 - Sequence 437962 from Patent EP1572962.
JD383376 - Sequence 364400 from Patent EP1572962.
JD335128 - Sequence 316152 from Patent EP1572962.
JD067864 - Sequence 48888 from Patent EP1572962.
JD356193 - Sequence 337217 from Patent EP1572962.
JD544446 - Sequence 525470 from Patent EP1572962.
JD383628 - Sequence 364652 from Patent EP1572962.
JD450330 - Sequence 431354 from Patent EP1572962.
JD403398 - Sequence 384422 from Patent EP1572962.
JD078508 - Sequence 59532 from Patent EP1572962.
JD424842 - Sequence 405866 from Patent EP1572962.
JD214819 - Sequence 195843 from Patent EP1572962.
JD475064 - Sequence 456088 from Patent EP1572962.
JD251091 - Sequence 232115 from Patent EP1572962.
JD450633 - Sequence 431657 from Patent EP1572962.
JD315184 - Sequence 296208 from Patent EP1572962.
JD253698 - Sequence 234722 from Patent EP1572962.
DQ586371 - Homo sapiens piRNA piR-53483, complete sequence.
JD360452 - Sequence 341476 from Patent EP1572962.
JD538247 - Sequence 519271 from Patent EP1572962.
JD483321 - Sequence 464345 from Patent EP1572962.
JD230747 - Sequence 211771 from Patent EP1572962.
JD560171 - Sequence 541195 from Patent EP1572962.
JD464822 - Sequence 445846 from Patent EP1572962.
JD385324 - Sequence 366348 from Patent EP1572962.
JD151208 - Sequence 132232 from Patent EP1572962.
JD153975 - Sequence 134999 from Patent EP1572962.
JD078936 - Sequence 59960 from Patent EP1572962.
JD158150 - Sequence 139174 from Patent EP1572962.
JD401035 - Sequence 382059 from Patent EP1572962.
JD159195 - Sequence 140219 from Patent EP1572962.
JD276068 - Sequence 257092 from Patent EP1572962.
JD456658 - Sequence 437682 from Patent EP1572962.
JD111552 - Sequence 92576 from Patent EP1572962.
JD524545 - Sequence 505569 from Patent EP1572962.
JD037381 - Sequence 18405 from Patent EP1572962.
JD258338 - Sequence 239362 from Patent EP1572962.
JD132929 - Sequence 113953 from Patent EP1572962.
JD278105 - Sequence 259129 from Patent EP1572962.
JD144519 - Sequence 125543 from Patent EP1572962.
JD515412 - Sequence 496436 from Patent EP1572962.
JD077405 - Sequence 58429 from Patent EP1572962.
JD278230 - Sequence 259254 from Patent EP1572962.
JD387021 - Sequence 368045 from Patent EP1572962.
JD270566 - Sequence 251590 from Patent EP1572962.
JD457682 - Sequence 438706 from Patent EP1572962.
DQ586293 - Homo sapiens piRNA piR-53405, complete sequence.
DQ597554 - Homo sapiens piRNA piR-35620, complete sequence.
JD492770 - Sequence 473794 from Patent EP1572962.
JD406411 - Sequence 387435 from Patent EP1572962.
JD544037 - Sequence 525061 from Patent EP1572962.
JD199203 - Sequence 180227 from Patent EP1572962.
JD468914 - Sequence 449938 from Patent EP1572962.
JD565537 - Sequence 546561 from Patent EP1572962.
JD424320 - Sequence 405344 from Patent EP1572962.
JD467305 - Sequence 448329 from Patent EP1572962.
JD301298 - Sequence 282322 from Patent EP1572962.
JD314693 - Sequence 295717 from Patent EP1572962.
JD280385 - Sequence 261409 from Patent EP1572962.
JD240206 - Sequence 221230 from Patent EP1572962.
BC010045 - Homo sapiens cDNA clone IMAGE:3636372, partial cds.
JD057395 - Sequence 38419 from Patent EP1572962.
JD377922 - Sequence 358946 from Patent EP1572962.
JD233317 - Sequence 214341 from Patent EP1572962.
JD350223 - Sequence 331247 from Patent EP1572962.
JD166111 - Sequence 147135 from Patent EP1572962.
JD561783 - Sequence 542807 from Patent EP1572962.
JD534362 - Sequence 515386 from Patent EP1572962.
JD549157 - Sequence 530181 from Patent EP1572962.
JD428767 - Sequence 409791 from Patent EP1572962.
JD551375 - Sequence 532399 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N9F0 (Reactome details) participates in the following event(s):

R-HSA-8954468 NAT8L transfers acetyl group from Ac-CoA to L-Asp, forming NAA
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CML3, NAT8L_HUMAN, NM_178557, NP_848652, Q8N9F0
UCSC ID: uc003geq.2
RefSeq Accession: NM_178557
Protein: Q8N9F0 (aka NAT8L_HUMAN)
CCDS: CCDS3359.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_178557.3
exon count: 3CDS single in 3' UTR: no RNA size: 5894
ORF size: 909CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1639.50frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.