InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLUL

Summary

InnateDB Protein

IDBP-389787.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLUL

Protein Name

glutamate-ammonia ligase

Synonyms

GLNS; GS; PIG43; PIG59;

Species

Homo sapiens

Ensembl Protein

ENSP00000398320

InnateDB Gene

IDBG-105226 (GLUL)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm. Mitochondrion {ECO:0000250}.

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

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]
Protein-Protein	25 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004351	glutamate decarboxylase activity
GO:0004356	glutamate-ammonia ligase activity
GO:0042802	identical protein binding

Biological Process

GO:0001504	neurotransmitter uptake
GO:0006538	glutamate catabolic process
GO:0006542	glutamine biosynthetic process
GO:0006807	nitrogen compound metabolic process
GO:0007268	synaptic transmission
GO:0008283	cell proliferation
GO:0008652	cellular amino acid biosynthetic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process