GLUD1 - glutamate dehydrogenase 1 Gene

Also Known as GDH; GDH1; GLUD; hGDH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2746

About GLUD1

Cytogenetic location: 10q23.2 Genomic coordinates (GRCh38): 10:87,050,202-87,094,843 (from NCBI)

This gene has 27 transcripts (splice variants), 280 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 169.1), kidney (RPKM 95.6) and 24 other tissues.

Summary

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]

GLUD1 Products (7)

mRNA	Protein	Name
NM_001318900.1	NP_001305829.1	glutamate dehydrogenase 1, mitochondrial isoform b
NM_001318901.1	NP_001305830.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318902.1	NP_001305831.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318904.2	NP_001305833.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318905.2	NP_001305834.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_001318906.2	NP_001305835.1	glutamate dehydrogenase 1, mitochondrial isoform c
NM_005271.5	NP_005262.1	glutamate dehydrogenase 1, mitochondrial isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ADP binding	IDA IDA: Inferred from direct assay	12742085	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	11032875	GOA
enables L-leucine binding	IDA IDA: Inferred from direct assay	12742085	GOA
enables NAD+ binding	IDA IDA: Inferred from direct assay	12193607	GOA
enables glutamate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	11903050	GOA
enables glutamate dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	11032875	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16959573	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11903050	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glutamate biosynthetic process	IDA IDA: Inferred from direct assay	11032875	GOA
involved in glutamate catabolic process	IDA IDA: Inferred from direct assay	6121377	GOA
involved in positive regulation of insulin secretion	IMP IMP: Inferred from mutant phenotype	11502802	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18688271	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19448744	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15578726	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLUD1 Protein Structure

ELFV_dehydrog_N

ELFV_dehydrog

0
100
200
300
400
500
558 a.a.

Protein Preferred Names	Protein Names
glutamate dehydrogenase 1, mitochondrial	epididymis secretory sperm binding protein

GLUD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83281	Glutamate Dehydrogenase 1 Antibody (YA3026)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinism-Hyperammonemia Syndrome HHF6 Familial Hyperinsulinemic Hypoglycemia 6 Hi/Ha Syndrome Ha/Hi Syndrome Hyperinsulinemic Hypoglycemia Familial 6 Hyperinsulinism Hyperammonemia Syndrome Hhs
Hyperinsulinism	Hyperinsulinemia
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Olivopontocerebellar Atrophy	Thomas Syndrome Olivopontocerebellar Atrophies Dejerine-Thomas Syndrome Thomas' Syndrome Wadia-Swami Syndrome Opca Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome Spinocerebellar Ataxia Type 2
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Hyperinsulinemic Hypoglycemia, Familial, 7	HHF7 Exercise-Induced Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinism Familial Hyperinsulinemic Hypoglycemia 7 Eihi Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency Hyperinsulinism Due To Slc16a1 Deficiency Hyperinsulinemic Hypoglycemia, Exercise-Induced Exercise Induced Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinemic Hypoglycemia Familial 7
Primary Cerebellar Degeneration	Spinocerebellar Degenerations Cerebellar Degenerations, Primary Spinocerebellar Degeneration
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Hypoglycemia, Leucine-Induced	Leucine-Sensitive Hypoglycemia Of Infancy Leucine-Induced Hypoglycemia LIH Hypoglycemia Of Infancy, Leucine-Sensitive Familial Infantile Hypoglycemia Precipitated By Leucine Hypoglycemia Leucine Induced Hypoglycemia Leucine-Induced
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency MCT1D Ketosis
Endometritis
Immunodeficiency 24	Severe Combined Immunodeficiency Due To Ctps1 Deficiency IMD24 Scid Due To Ctps1 Deficiency Immunodeficiency, Type 24
Mixed Malaria	Malaria By More Than One Parasite Malaria Fever By More Than One Parasite
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Multiple System Atrophy 1	Multiple System Atrophy Shy-Drager Syndrome Msa MSA1 Multiple System Atrophy 1, Susceptibility To Sporadic Olivopontocerebellar Atrophy Multisystem Atrophy Msa1, Susceptibility To Multiple System Atrophy, Susceptibility To Opca Progressive Autonomic Failure With Multiple System Atrophy Sds
Fetal Erythroblastosis	Erythroblastosis, Fetal Ef - Erythroblastosis Foetalis Erythroblastosis Fetalis Haemolytic Disease Due To Rhesus Isoimmunisation Rhesus Isoimmunisation Of The Newborn
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-150526	EGCG-4″-sulfate	Inducer	/	Phase 4

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13653	(-)-Epigallocatechin Gallate	Inducer	99.75%	Yes
HY-103096	R162	Inhibitor	99.89%	Unkown
HY-13653R	(-)-Epigallocatechin Gallate (Standard)	Inducer	98.05%	Unkown
HY-13653S1	(-)-Epigallocatechin Gallate-d4	Inducer	97.14%	Unkown
HY-RS05507	GLUD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05795	GRID1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-170017S	(−)-Epigallocatechin Gallate-d3/d4	Inducer	/	Unkown
HY-RS17659	Glud1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24120	Glud1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLUD1	RGD	RGD:2708
Mus musculus	GLUD1	MGD	MGI:95753
Others	GLUD1	NCBI