Gene Gene information from NCBI Gene database.
Entrez ID 2752
Gene name Glutamate-ammonia ligase
Gene symbol GLUL
Synonyms (NCBI Gene)
DEE116GLNSGSPIG43PIG59
Chromosome 1
Chromosome location 1q25.3
Summary 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.
3
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.
590
miRTarBase ID miRNA Experiments Reference
MIRT004021 hsa-miR-29a-3p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 19951903
MIRT004021 hsa-miR-29a-3p ImmunoblotLuciferase reporter assayMicroarrayqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0003824 Function Catalytic activity IEA
GO:0004356 Function Glutamine synthetase activity IBA
GO:0004356 Function Glutamine synthetase activity IDA 30158707, 36289327
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138290 4341 ENSG00000135821
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
43
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital brain dysgenesis due to glutamine synthetase deficiency Likely pathogenic; Pathogenic rs1650080437, rs1650179029, rs80358214, rs80358215 RCV001353062
RCV001353063
RCV000017463
RCV000017464
RCV000022586
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 116 Likely pathogenic; Pathogenic rs1131691970 RCV004782761
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 16 Likely pathogenic; Pathogenic rs1131691970, rs2525592797 RCV004526131
RCV004526259
RCV004540681
RCV004525945
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutamine synthetase stabilization disorder Likely pathogenic; Pathogenic rs1131691970, rs2525592797 RCV003883693
RCV003885347
RCV003885348
RCV003884568
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES, METABOLIC, INBORN CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 29512829
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 9745420
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 24746201, 28580885, 31189995
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 9745420
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 29642388
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26455863 Associate
★☆☆☆☆
Found in Text Mining only
Amino Acid Metabolism, Inborn Errors Disorder of amino acid metabolism BEFREE 25896882
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 20060132
★☆☆☆☆
Found in Text Mining only
Angina Pectoris Angina pectoris Pubtator 26395743 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31665640
★☆☆☆☆
Found in Text Mining only