Tbio GLUD1 Glutamate dehydrogenase 1, mitochondrial

Protein Summary

Description

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). This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]

Uniprot Accession IDs

• P00367
• B3KV55
• B4DGN5
• Q5TBU3
• GDH 1

Gene Name

• GLUD1

Ensembl ID

• ENST00000277865
• ENSP00000277865
• ENSG00000148672

Symbol

• GLUD
• GDH
• GDH1
• GLUD

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.99
disease perturbation	0.97
hub protein	0.97
interacting protein	0.97
transcription factor binding site profile	0.88

Protein Classes

PANTHER Classes

Protein / Oxidoreductase / Dehydrogenase / Glutamate Dehydrogenase 1, Mitochondrial

DTO Classes

Protein / Enzyme / Oxidoreductase / Dehydrogenase / Glutamate Dehydrogenase 1, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 353.75   (req: < 5)

Gene RIFs: 64   (req: <= 3)

Antibodies: 231   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 353.75   (req: >= 5)

Gene RIFs: 64   (req: > 3)

Antibodies: 231   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (176)

Explore Interacting Targets

1 – 10 of 176

• See Interactions on String-DB

BIRC8

Tchem

Novelty:  0.05142518

p_int:  0.943350768

p_ni:  0.056649232

Score:  0.513

Data Source:  BioPlex,STRINGDB

KLHL22

Tbio

Novelty:  0.24456252

p_int:  0.892251723

p_ni:  0.107748277

Score:  0.603

Data Source:  BioPlex,STRINGDB

GLUD2

Tbio

Family:  Enzyme

Novelty:  0.01470266

p_int:  0.811162024

p_ni:  0.188837976

Score:  0.994

Data Source:  BioPlex,STRINGDB

GOT2

Tbio

Family:  Enzyme

Novelty:  0.00054023

Score:  0.986

Data Source:  STRINGDB

GLUL

Tchem

Family:  Enzyme

Novelty:  0.00086054

Score:  0.983

Data Source:  STRINGDB

GOT1

Tbio

Family:  Enzyme

Novelty:  0.00448817

Score:  0.979

Data Source:  STRINGDB

GPT2

Tbio

Family:  Enzyme

Novelty:  0.00478585

Score:  0.966

Data Source:  STRINGDB

IDH2

Tclin

Family:  Enzyme

Novelty:  0.00131782

Score:  0.965

Data Source:  STRINGDB

ALDH4A1

Tbio

Family:  Enzyme

Novelty:  0.01316227

Score:  0.963

Data Source:  STRINGDB

SIRT4

Tbio

Family:  Epigenetic

Novelty:  0.00245755

Score:  0.961

Data Source:  Reactome,STRINGDB

Nearest Tclin Targets (1)

Explore Nearest Tclin Targets

Upstream (1)

1 – 1 of 1

CPS1

Tclin

Family:  Enzyme

KEGG Distance:  1

Common Pathways:  5

1: Alanine, aspartate and glutamate metabolism

2: Carbon metabolism

3: Metabolic pathways

4: Nitrogen metabolism

5: Arginine biosynthesis

Pathways (27)

Reactome (6)

KEGG (8)

PathwayCommons (7)

WikiPathways (6)

Glutamate and glutamine metabolism (R-HSA-8964539)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Glutamate and glutamine metabolism	13 targets	R-HSA-8964539
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of amino acids and derivatives	373 targets	R-HSA-71291
Reactome	Mitochondrial biogenesis	89 targets	R-HSA-1592230
Reactome	Organelle biogenesis and maintenance	276 targets	R-HSA-1852241

Name	Explore in Pharos	Explore in Source
Glutamate and glutamine metabolism	13 targets	R-HSA-8964539
Metabolism	2112 targets	R-HSA-1430728
Metabolism of amino acids and derivatives	373 targets	R-HSA-71291
Mitochondrial biogenesis	89 targets	R-HSA-1592230
Organelle biogenesis and maintenance	276 targets	R-HSA-1852241

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (18)

Functions (8)

Components (3)

Processes (7)

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1 – 8 of 8

GO Term	Evidence	Assigned by
ADP binding	Inferred from Direct Assay (IDA)	BHF-UCL
glutamate dehydrogenase (NAD+) activity	Inferred from Direct Assay (IDA)	UniProtKB
glutamate dehydrogenase [NAD(P)+] activity	Inferred from Direct Assay (IDA)	BHF-UCL
GTP binding	Inferred from Direct Assay (IDA)	BHF-UCL
leucine binding	Inferred from Direct Assay (IDA)	BHF-UCL
NAD+ binding	Inferred from Direct Assay (IDA)	BHF-UCL
identical protein binding	Traceable Author Statement (TAS)	BHF-UCL
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (7)

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1 – 5 of 7

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
urate measurement	EFO_0004531	4	3	4		86.8
gout	EFO_0004274	5	4	0	1.4	86
hemoglobin measurement	EFO_0004509	2	2	2		75.7
hematocrit	EFO_0004348	2	2	2		66.6
red blood cell density measurement	EFO_0007978	1	1	1		63.7

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
urate measurement	EFO_0004531	4		86.8
gout	EFO_0004274	0	1.4	86
hemoglobin measurement	EFO_0004509	2		75.7
hematocrit	EFO_0004348	2		66.6
red blood cell density measurement	EFO_0007978	1		63.7

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UniProt Keyword Find Similar Targets

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3D-structure
Acetylation
ADP-ribosylation
Alternative splicing
ATP-binding
Complete proteome
Direct protein sequencing
Disease mutation
GTP-binding
Mitochondrion

GWAS Trait Find Similar Targets

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glomerular filtration rate
gout
hematocrit
hemoglobin measurement
red blood cell density measurement
urate measurement
uric acid measurement

MGI Phenotype Find Similar Targets

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endocrine/exocrine gland phenotype
homeostasis/metabolism phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	glutamate dehydrogenase 1	VGNC:3868	450576
Macaque	glutamate dehydrogenase 1, mitochondrial		693461
Mouse	glutamate dehydrogenase 1	MGI:95753	14661
Rat	glutamate dehydrogenase 1	RGD:2708	24399
Dog	glutamate dehydrogenase 1		100684847

Species	Name	OMA	EggNOG	Inparanoid
Chimp	glutamate dehydrogenase 1
Macaque	glutamate dehydrogenase 1, mitochondrial
Mouse	glutamate dehydrogenase 1
Rat	glutamate dehydrogenase 1
Dog	glutamate dehydrogenase 1

Publication Statistics

PubMed Score 353.75

PubMed score by year

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PubTator Score 441.87

PubTator score by year

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Related Publications

Text Mined References (127)

GeneRif Annotations (64)

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PMID	Year	Title