NAGS R509Q [mitochondrial matrix]

Stable Identifier
R-HSA-9955646
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
NAGS, N-acetylglutamate synthetase
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
17421020 Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

Caldovic, L, Morizono, H, Tuchman, M

Hum Mutat 2007
15714518 Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

Caldovic, L, Morizono, H, Panglao, MG, Lopez, GY, Shi, D, Summar, ML, Tuchman, M

Hum Mutat 2005
External Reference Information
External Reference
UniProt:Q8N159 NAGS
Gene Names
NAGS
Chain
transit peptide:1-18, chain:19-534, chain:51-534, chain:92-534
Reference Genes
BioGPS Gene:162417 NAGS
COSMIC - genes:NAGS NAGS
CTD Gene:162417 NAGS
dbSNP Gene:162417 NAGS
ENSEMBL:ENSG00000161653 NAGS
HGNC:17996 NAGS
KEGG:hsa:162417 NAGS
Monarch:162417 NAGS
NCBI Gene:162417 NAGS
OMIM:608300 NAGS
UCSC:Q8N159 NAGS
Reference Transcript
Other Identifiers
11727323_a_at
11727324_at
11751055_a_at
162417
16834689
229432_PM_at
229432_at
3722706
3722707
3722708
3722709
3722710
3722712
3722713
3722714
3722715
3722717
3722718
3722719
3722720
3722722
3722723
3722725
3722727
47145_at
8007550
A_14_P104817
A_14_P110833
A_23_P405794
A_23_P406187
A_32_P32739
GE562752
GO:0000050
GO:0004042
GO:0005739
GO:0005759
GO:0006520
GO:0006526
GO:0006536
GO:0016740
GO:0016746
GO:0016747
GO:0071941
HMNXSV003003071
Hs.8876.0.A1_3p_at
ILMN_1758597
PH_hs_0000936
TC17000561.hg
Participates
as a component of
Other forms of this molecule
NAGS L430P [mitochondrial matrix]
NAGS W484R [mitochondrial matrix]
NAGS E433D [mitochondrial matrix]
NAGS A279T [mitochondrial matrix]
NAGS S410P [mitochondrial matrix]
NAGS W324* [mitochondrial matrix]
NAGS L312P [mitochondrial matrix]
NAGS A518T [mitochondrial matrix]
NAGS C200R [mitochondrial matrix]
NAGS T431I [mitochondrial matrix]
NAGS(19-534) [mitochondrial matrix]
Modified Residues
Name
L-arginine 509 replaced with L-glutamine
Coordinate
509
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
N-acetylglutamate synthase deficiency DOID:0112258 NAG synthetase deficiency, NAGS deficiency, N-acetylglutamate synthetase deficiency, N-acetyl glutamate synthetase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency
Cross References
RefSeq
ENSEMBL
OpenTargets
Mondo
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
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