InnateDB Protein
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IDBP-105232.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GLUL
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Protein Name
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glutamate-ammonia ligase
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Synonyms
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GLNS; GS; PIG43; PIG59;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000344958
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InnateDB Gene
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IDBG-105226 (GLUL)
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Protein Structure
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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. {ECO:0000250, ECO:0000269PubMed:18662667}.
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Subcellular Localization |
Cytoplasm. Mitochondrion {ECO:0000250}.
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Disease Associations |
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. {ECO:0000269PubMed:16267323}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
27
[view]
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Protein-Protein |
25
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008146
Glutamine synthetase, catalytic domain
IPR008147
Glutamine synthetase, beta-Grasp
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PFAM |
PF00120
PF03951
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P15104
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PhosphoSite |
PhosphoSite-P15104
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TrEMBL |
B4DWM6
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UniProt Splice Variant |
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Entrez Gene |
2752
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UniGene |
Hs.708180
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RefSeq |
XP_006711341
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HUGO |
HGNC:4341
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OMIM |
138290
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CCDS |
CCDS1344
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HPRD |
00701
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IMGT |
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EMBL |
AK122784
AK301600
AL139344
AY486122
AY486123
AY947343
BC010037
BC011700
BC011852
BC018992
BC031964
BC051726
BX537384
CH471067
S70290
X59834
Y00387
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GenPept |
AAB30693
AAH10037
AAH11700
AAH11852
AAH18992
AAH31964
AAH51726
AAS57904
AAS57905
AAY57874
BAG53728
BAG63088
CAA42495
CAA68457
CAD97626
CAI19842
EAW91116
EAW91117
EAW91119
EAW91120
EAW91122
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