InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLUD1

Summary

InnateDB Protein

IDBP-81219.5

Last Modified

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

Gene Symbol

GLUD1

Protein Name

glutamate dehydrogenase 1

Synonyms

GDH; GDH1; GLUD;

Species

Homo sapiens

Ensembl Protein

ENSP00000277865

InnateDB Gene

IDBG-81217 (GLUD1)

Protein Structure

UniProt Annotation

Function

Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). {ECO:0000250}.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver. {ECO:0000269PubMed:10636977, ECO:0000269PubMed:11214910, ECO:0000269PubMed:11297618, ECO:0000269PubMed:9571255}. 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 24 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004352	glutamate dehydrogenase (NAD+) activity
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding
GO:0016491	oxidoreductase activity
GO:0016639	oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor
GO:0042802	identical protein binding
GO:0043531	ADP binding
GO:0070403	NAD+ binding
GO:0070728	leucine binding

Biological Process

GO:0006520	cellular amino acid metabolic process
GO:0006537	glutamate biosynthetic process
GO:0006538	glutamate catabolic process
GO:0006541	glutamine metabolic process
GO:0008652	cellular amino acid biosynthetic process
GO:0021762	substantia nigra development
GO:0032024	positive regulation of insulin secretion
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0072350	tricarboxylic acid metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR006095 Glutamate/phenylalanine/leucine/valine dehydrogenase
IPR006096 Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal
IPR006097 Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain

PFAM

PF00208
PF02812

PRINTS

PR00082

PIRSF

SMART

SM00839

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt