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Protein

N-acetylaspartate synthetase

Gene

NAT8L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

Acetyl-CoA + L-aspartate = CoA + N-acetyl-L-aspartate.

Enzyme regulationi

Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria.1 Publication

GO - Molecular functioni

  • aspartate N-acetyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.3.1.17 2681
ReactomeiR-HSA-70614 Amino acid synthesis and interconversion (transamination)

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylaspartate synthetase (EC:2.3.1.17)
Short name:
NAA synthetase
Alternative name(s):
Camello-like protein 3
N-acetyltransferase 8-like protein
Gene namesi
Name:NAT8L
Synonyms:CML3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000185818.7
HGNCiHGNC:26742 NAT8L
MIMi610647 gene
neXtProtiNX_Q8N9F0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei121 – 141HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

N-acetylaspartate deficiency (NACED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly.
See also OMIM:614063

Organism-specific databases

DisGeNETi339983
MalaCardsiNAT8L
MIMi614063 phenotype
OpenTargetsiENSG00000185818
PharmGKBiPA162396985

Polymorphism and mutation databases

BioMutaiNAT8L
DMDMi259016335

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003052291 – 302N-acetylaspartate synthetaseAdd BLAST302

Proteomic databases

MaxQBiQ8N9F0
PaxDbiQ8N9F0
PeptideAtlasiQ8N9F0
PRIDEiQ8N9F0

Expressioni

Tissue specificityi

Expressed in brain.1 Publication

Inductioni

By methamphetamine in brain, via dopamine receptor activation (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000185818
CleanExiHS_NAT8L
ExpressionAtlasiQ8N9F0 baseline and differential
GenevisibleiQ8N9F0 HS

Organism-specific databases

HPAiHPA040677

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P408554EBI-14384265,EBI-594747

Protein-protein interaction databases

BioGridi130978, 5 interactors
IntActiQ8N9F0, 1 interactor
STRINGi9606.ENSP00000413064

Structurei

3D structure databases

ProteinModelPortaliQ8N9F0
SMRiQ8N9F0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini143 – 283N-acetyltransferasePROSITE-ProRule annotationAdd BLAST141

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi40 – 73Pro-richAdd BLAST34

Sequence similaritiesi

Belongs to the camello family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410KDG3 Eukaryota
ENOG410YY26 LUCA
GeneTreeiENSGT00390000009559
HOGENOMiHOG000202639
HOVERGENiHBG108173
InParanoidiQ8N9F0
KOiK18309
OMAiYMKPTGS
OrthoDBiEOG091G0JGW
PhylomeDBiQ8N9F0
TreeFamiTF324687

Family and domain databases

InterProiView protein in InterPro
IPR016181 Acyl_CoA_acyltransferase
IPR000182 GNAT_dom
PfamiView protein in Pfam
PF00583 Acetyltransf_1, 1 hit
SUPFAMiSSF55729 SSF55729, 1 hit
PROSITEiView protein in PROSITE
PS51186 GNAT, 1 hit

Sequencei

Sequence statusi: Complete.

Q8N9F0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHCGPPDMVC ETKIVAAEDH EALPGAKKDA LLAAAGAMWP PLPAAPGPAA
60 70 80 90 100
APPAPPPAPV AQPHGGAGGA GPPGGRGVCI REFRAAEQEA ARRIFYDGIM
110 120 130 140 150
ERIPNTAFRG LRQHPRAQLL YALLAALCFA VSRSLLLTCL VPAALLGLRY
160 170 180 190 200
YYSRKVIRAY LECALHTDMA DIEQYYMKPP GSCFWVAVLD GNVVGIVAAR
210 220 230 240 250
AHEEDNTVEL LRMSVDSRFR GKGIAKALGR KVLEFAVVHN YSAVVLGTTA
260 270 280 290 300
VKVAAHKLYE SLGFRHMGAS DHYVLPGMTL SLAERLFFQV RYHRYRLQLR

EE
Length:302
Mass (Da):32,837
Last modified:September 22, 2009 - v3
Checksum:i2080E54930F3292B
GO

Sequence cautioni

The sequence AAH93906 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH93908 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI03749 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04426 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAM15218 differs from that shown. Reason: Erroneous gene model prediction.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL132868 Genomic DNA Translation: CAM15218.1 Sequence problems.
CN256164 mRNA No translation available.
BC093906 mRNA Translation: AAH93906.1 Different initiation.
BC093908 mRNA Translation: AAH93908.1 Different initiation.
BC103748 mRNA Translation: AAI03749.1 Different initiation.
AK094797 mRNA Translation: BAC04426.1 Different initiation.
CCDSiCCDS3359.2
RefSeqiNP_848652.2, NM_178557.3
UniGeneiHs.318529

Genome annotation databases

EnsembliENST00000423729; ENSP00000413064; ENSG00000185818
GeneIDi339983
KEGGihsa:339983
UCSCiuc003geq.3 human

Similar proteinsi

Entry informationi

Entry nameiNAT8L_HUMAN
AccessioniPrimary (citable) accession number: Q8N9F0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: September 22, 2009
Last modified: January 31, 2018
This is version 121 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health