RBCC Red Blood Cell Collection

GLNA_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GLUL , GLNS
Protein names and data: GLNA_HUMAN , Glutamine synthetase; GS; 6.3.1.2 , Glutamate decarboxylase; 4.1.1.15; Glutamate--ammonia ligase Lenght: 373 a.a.
Mass: 42064 Da
fasta formatted sequence
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. L-glutamate = 4-aminobutanoate + CO(2).
Disease: ( OMIM: 138290 610015 ) Congenital systemic glutamine deficiency (CSGD) [MIM:610015]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Mitochondrion (By similarity).

Genetic variants

324 - 324 R -> C (in CSGD; reduced glutamine synthetase activity). VAR_026560
341 - 341 R -> C (in CSGD; suggests reduced glutamine synthetase activity). VAR_026561

Database cross-references

UniProt: P15104
Ensembl: ENST00000311223
Ensembl: ENST00000331872
Ensembl: ENST00000339526
Ensembl: ENST00000417584
MIM: 138290
MIM: 610015
neXtProt: NX_P15104
Antibodypedia: P15104 (may not find the protein thus also not any antibody)
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