Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2752 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Glutamate-ammonia ligase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
GLUL |
SynonymsGene synonyms aliases
|
DEE116, GLNS, GS, PIG43, PIG59 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q25.3 |
SummarySummary 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 |
SNPsSNP 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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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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 |
|
Sequence |
|
Sequence length |
373 |
Interactions |
View interactions |