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UniProtKB - Q8N9F0 (NAT8L_HUMAN)
Protein
N-acetylaspartate synthetase
Gene
NAT8L
Organism
Homo sapiens (Human)
Status
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 PublicationCatalytic activityi
- EC:2.3.1.17By similarity
Activity regulationi
Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria.1 Publication
GO - Molecular functioni
- aspartate N-acetyltransferase activity Source: UniProtKB
- N-acetyltransferase activity Source: GO_Central
GO - Biological processi
- aspartate family amino acid metabolic process Source: Reactome
Keywordsi
Molecular function | Acyltransferase, Transferase |
Enzyme and pathway databases
BRENDAi | 2.3.1.17, 2681 |
PathwayCommonsi | Q8N9F0 |
Reactomei | R-HSA-8963693, Aspartate and asparagine metabolism |
SignaLinki | Q8N9F0 |
Names & Taxonomyi
Protein namesi | Recommended name: N-acetylaspartate synthetaseCurated (EC:2.3.1.17By similarity)Short name: NAA synthetase Alternative name(s): Camello-like protein 3 N-acetyltransferase 8-like protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26742, NAT8L |
MIMi | 610647, gene |
neXtProti | NX_Q8N9F0 |
VEuPathDBi | HostDB:ENSG00000185818 |
Subcellular locationi
Mitochondrion
Cytoplasm and Cytosol
Endoplasmic reticulum
- Microsome membrane By similarity; Single-pass membrane protein By similarity
- Rough endoplasmic reticulum membrane By similarity; Single-pass membrane protein By similarity
Other locations
- Membrane Curated; Single-pass membrane protein Curated
Note: Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment.
Endoplasmic reticulum
- rough endoplasmic reticulum membrane Source: UniProtKB-SubCell
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrial membrane Source: UniProtKB
- mitochondrion Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 121 – 141 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, MitochondrionPathology & Biotechi
Involvement in diseasei
N-acetylaspartate deficiency (NACED)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly.
Related information in OMIMOrganism-specific databases
DisGeNETi | 339983 |
MalaCardsi | NAT8L |
MIMi | 614063, phenotype |
OpenTargetsi | ENSG00000185818 |
PharmGKBi | PA162396985 |
Miscellaneous databases
Pharosi | Q8N9F0, Tbio |
Chemistry databases
GuidetoPHARMACOLOGYi | 3144 |
Genetic variation databases
BioMutai | NAT8L |
DMDMi | 259016335 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000305229 | 1 – 302 | N-acetylaspartate synthetaseAdd BLAST | 302 |
Proteomic databases
EPDi | Q8N9F0 |
MassIVEi | Q8N9F0 |
MaxQBi | Q8N9F0 |
PaxDbi | Q8N9F0 |
PeptideAtlasi | Q8N9F0 |
PRIDEi | Q8N9F0 |
ProteomicsDBi | 72525 |
PTM databases
iPTMneti | Q8N9F0 |
PhosphoSitePlusi | Q8N9F0 |
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
Bgeei | ENSG00000185818, Expressed in occipital lobe and 171 other tissues |
Genevisiblei | Q8N9F0, HS |
Organism-specific databases
HPAi | ENSG00000185818, Group enriched (adipose tissue, brain) |
Interactioni
Binary interactionsi
Q8N9F0
With | #Exp. | IntAct |
---|---|---|
PEX19 [P40855] | 3 | EBI-14384265,EBI-594747 |
Protein-protein interaction databases
BioGRIDi | 130978, 9 interactors |
IntActi | Q8N9F0, 3 interactors |
STRINGi | 9606.ENSP00000413064 |
Miscellaneous databases
RNActi | Q8N9F0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 143 – 283 | N-acetyltransferasePROSITE-ProRule annotationAdd BLAST | 141 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 46 – 72 | DisorderedSequence analysisAdd BLAST | 27 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 46 – 62 | Pro residuesSequence analysisAdd BLAST | 17 |
Sequence similaritiesi
Belongs to the camello family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3139, Eukaryota |
GeneTreei | ENSGT00950000182932 |
HOGENOMi | CLU_013985_10_0_1 |
InParanoidi | Q8N9F0 |
OMAi | HCGPPDM |
OrthoDBi | 1341682at2759 |
PhylomeDBi | Q8N9F0 |
TreeFami | TF324687 |
Family and domain databases
InterProi | View protein in InterPro IPR016181, Acyl_CoA_acyltransferase IPR000182, GNAT_dom |
Pfami | View protein in Pfam PF00583, Acetyltransf_1, 1 hit |
SUPFAMi | SSF55729, SSF55729, 1 hit |
PROSITEi | View protein in PROSITE PS51186, GNAT, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8N9F0-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAH93906 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH93908 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI03749 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04426 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL132868 Genomic DNA No translation available. 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. |
CCDSi | CCDS3359.2 |
RefSeqi | NP_848652.2, NM_178557.3 |
Genome annotation databases
Ensembli | ENST00000423729; ENSP00000413064; ENSG00000185818 |
GeneIDi | 339983 |
KEGGi | hsa:339983 |
MANE-Selecti | ENST00000423729.3; ENSP00000413064.2; NM_178557.4; NP_848652.2 |
UCSCi | uc003geq.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL132868 Genomic DNA No translation available. 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. |
CCDSi | CCDS3359.2 |
RefSeqi | NP_848652.2, NM_178557.3 |
3D structure databases
SMRi | Q8N9F0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130978, 9 interactors |
IntActi | Q8N9F0, 3 interactors |
STRINGi | 9606.ENSP00000413064 |
Chemistry databases
GuidetoPHARMACOLOGYi | 3144 |
PTM databases
iPTMneti | Q8N9F0 |
PhosphoSitePlusi | Q8N9F0 |
Genetic variation databases
BioMutai | NAT8L |
DMDMi | 259016335 |
Proteomic databases
EPDi | Q8N9F0 |
MassIVEi | Q8N9F0 |
MaxQBi | Q8N9F0 |
PaxDbi | Q8N9F0 |
PeptideAtlasi | Q8N9F0 |
PRIDEi | Q8N9F0 |
ProteomicsDBi | 72525 |
Protocols and materials databases
Antibodypediai | 50620, 89 antibodies from 22 providers |
DNASUi | 339983 |
Genome annotation databases
Ensembli | ENST00000423729; ENSP00000413064; ENSG00000185818 |
GeneIDi | 339983 |
KEGGi | hsa:339983 |
MANE-Selecti | ENST00000423729.3; ENSP00000413064.2; NM_178557.4; NP_848652.2 |
UCSCi | uc003geq.3, human |
Organism-specific databases
CTDi | 339983 |
DisGeNETi | 339983 |
GeneCardsi | NAT8L |
HGNCi | HGNC:26742, NAT8L |
HPAi | ENSG00000185818, Group enriched (adipose tissue, brain) |
MalaCardsi | NAT8L |
MIMi | 610647, gene 614063, phenotype |
neXtProti | NX_Q8N9F0 |
OpenTargetsi | ENSG00000185818 |
PharmGKBi | PA162396985 |
VEuPathDBi | HostDB:ENSG00000185818 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3139, Eukaryota |
GeneTreei | ENSGT00950000182932 |
HOGENOMi | CLU_013985_10_0_1 |
InParanoidi | Q8N9F0 |
OMAi | HCGPPDM |
OrthoDBi | 1341682at2759 |
PhylomeDBi | Q8N9F0 |
TreeFami | TF324687 |
Enzyme and pathway databases
BRENDAi | 2.3.1.17, 2681 |
PathwayCommonsi | Q8N9F0 |
Reactomei | R-HSA-8963693, Aspartate and asparagine metabolism |
SignaLinki | Q8N9F0 |
Miscellaneous databases
BioGRID-ORCSi | 339983, 6 hits in 1008 CRISPR screens |
ChiTaRSi | NAT8L, human |
GenomeRNAii | 339983 |
Pharosi | Q8N9F0, Tbio |
PROi | PR:Q8N9F0 |
RNActi | Q8N9F0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185818, Expressed in occipital lobe and 171 other tissues |
Genevisiblei | Q8N9F0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016181, Acyl_CoA_acyltransferase IPR000182, GNAT_dom |
Pfami | View protein in Pfam PF00583, Acetyltransf_1, 1 hit |
SUPFAMi | SSF55729, SSF55729, 1 hit |
PROSITEi | View protein in PROSITE PS51186, GNAT, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NAT8L_HUMAN | |
Accessioni | Q8N9F0Primary (citable) accession number: Q8N9F0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 2, 2007 |
Last sequence update: | September 22, 2009 | |
Last modified: | February 23, 2022 | |
This is version 145 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families