Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2752
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate-ammonia ligase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLUL
Synonyms (NCBI Gene) Gene synonyms aliases
DEE116, GLNS, GS, PIG43, PIG59
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE116
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base home
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80358214 G>A,T Pathogenic Missense variant, coding sequence variant
rs80358215 G>A Pathogenic Missense variant, coding sequence variant
rs1131691970 T>A Likely-pathogenic Initiator codon variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004021 hsa-miR-29a-3p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 19951903
MIRT004021 hsa-miR-29a-3p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 19951903
MIRT021141 hsa-miR-186-5p Sequencing 20371350
MIRT025018 hsa-miR-183-5p Sequencing 20371350
MIRT030540 hsa-miR-24-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake TAS
GO:0001525 Process Angiogenesis IEA
GO:0004356 Function Glutamate-ammonia ligase activity IBA 21873635
GO:0004356 Function Glutamate-ammonia ligase activity IDA 30158707
GO:0005515 Function Protein binding IPI 21994455, 25910212, 30158707
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138290 4341 ENSG00000135821
Protein
UniProt ID P15104
Protein name Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate--ammonia ligase) (Palmitoyltransferase GLUL) (EC 2.3.1.225)
Protein function Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:16267323, PubMed:30158707, PubMed:36289327). Its role depends on tissue localization: in the brain, it regulates the levels of toxic a
PDB 2OJW , 2QC8 , 7EVT , 8DNU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03951 Gln-synt_N 24 104 Glutamine synthetase, beta-Grasp domain Domain
PF00120 Gln-synt_C 110 361 Glutamine synthetase, catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells. {ECO:0000269|PubMed:30158707}.
Sequence
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Arginine biosynthesis
Alanine, aspartate and glutamate metabolism
Glyoxylate and dicarboxylate metabolism
Nitrogen metabolism
Metabolic pathways
Biosynthesis of amino acids
Necroptosis
Glutamatergic synapse
GABAergic synapse
  Astrocytic Glutamate-Glutamine Uptake And Metabolism
Glutamate and glutamine metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital brain dysgenesis due to glutamine synthetase deficiency, Glutamine deficiency, congenital rs80358214, rs80358215 30440076, 21353613, 20140959, 5336023, 16267323, 30158707, 30053506, 25870278
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
20882379
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
17303389, 21185888, 19125103, 15647480
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 16230605 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
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Alzheimer Disease Associate 26455863
Angina Pectoris Associate 26395743
Angiomyolipoma Associate 29512829
Astrocytoma Associate 21682567
Atherosclerosis Associate 35667160
Autistic Disorder Associate 29356297
Autoimmune Diseases Associate 36073000
Barrett Esophagus Associate 33491460