Description: Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA. RefSeq Summary (NM_001033056): 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 homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Transcript (Including UTRs) Position: hg19 chr1:182,350,839-182,360,539 Size: 9,701 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr1:182,353,540-182,357,872 Size: 4,333 Coding Exon Count: 6
ID:GLNA_HUMAN DESCRIPTION: RecName: Full=Glutamine synthetase; Short=GS; EC=6.3.1.2; AltName: Full=Glutamate decarboxylase; EC=4.1.1.15; AltName: Full=Glutamate--ammonia ligase; FUNCTION: This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts. CATALYTIC ACTIVITY: ATP + L-glutamate + NH(3) = ADP + phosphate + L-glutamine. CATALYTIC ACTIVITY: L-glutamate = 4-aminobutanoate + CO(2). COFACTOR: Biotin (By similarity). COFACTOR: Magnesium or manganese (By similarity). SUBUNIT: Homooctamer and homotetramer. Interacts with PALMD (By similarity). INTERACTION: Self; NbExp=3; IntAct=EBI-746653, EBI-746653; SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion (By similarity). DEVELOPMENTAL STAGE: Expressed during early fetal stages. INDUCTION: By glucocorticoids. Vitamin D and the Wnt signaling pathway inhibit its expression and activity. PTM: Ubiquitinated by ZNRF1 (By similarity). DISEASE: Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD) [MIM:610015]. CSGD is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid. SIMILARITY: Belongs to the glutamine synthetase family. WEB RESOURCE: Name=Wikipedia; Note=Glutamine synthetase entry; URL="http://en.wikipedia.org/wiki/Glutamine_synthetase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15104
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
