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Aliases for GLUD1 Gene

Aliases for GLUD1 Gene

  • Glutamate Dehydrogenase 1 2 3
  • EC 1.4.1.3 4 64
  • GDH 1 3 4
  • GLUD 3 4
  • Glutamate Dehydrogenase 1, Mitochondrial 3
  • Glutamate Dehydrogenase (NAD(P)+) 3
  • EC 1.4.1 64
  • GDH1 3
  • GDH 3

External Ids for GLUD1 Gene

Previous Symbols for GLUD1 Gene

  • GLUD

Summaries for GLUD1 Gene

Entrez Gene Summary for GLUD1 Gene

  • This gene encodes glutamate dehydrogenase protein; 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 and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. 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. Multiple pseudogenes of this gene are present in humans.[provided by RefSeq, Sep 2009]

GeneCards Summary for GLUD1 Gene

GLUD1 (Glutamate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with GLUD1 include hyperinsulinism-hyperammonemia syndrome and hyperinsulinism. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include identical protein binding and ADP binding. An important paralog of this gene is GLUD2.

UniProtKB/Swiss-Prot for GLUD1 Gene

  • 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).

Gene Wiki entry for GLUD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLUD1 Gene

Genomics for GLUD1 Gene

Genomic Location for GLUD1 Gene

Start:
87,050,202 bp from pter
End:
87,095,019 bp from pter
Size:
44,818 bases
Orientation:
Minus strand

Genomic View for GLUD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLUD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLUD1 Gene

Regulatory Elements for GLUD1 Gene

Proteins for GLUD1 Gene

  • Protein details for GLUD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00367-DHE3_HUMAN
    Recommended name:
    Glutamate dehydrogenase 1, mitochondrial
    Protein Accession:
    P00367
    Secondary Accessions:
    • B3KV55
    • B4DGN5
    • Q5TBU3

    Protein attributes for GLUD1 Gene

    Size:
    558 amino acids
    Molecular mass:
    61398 Da
    Quaternary structure:
    • Homohexamer

    Three dimensional structures from OCA and Proteopedia for GLUD1 Gene

    Alternative splice isoforms for GLUD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLUD1 Gene

Proteomics data for GLUD1 Gene at MOPED

Post-translational modifications for GLUD1 Gene

  • ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (By similarity). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys84, Lys162, Lys365, Lys415, Lys527, and Lys545

Other Protein References for GLUD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GLUD1 Gene

UniProtKB/Swiss-Prot:

DHE3_HUMAN
Family:
  • Belongs to the Glu/Leu/Phe/Val dehydrogenases family.:
    • P00367
genes like me logo Genes that share domains with GLUD1: view

No data available for Gene Families for GLUD1 Gene

Function for GLUD1 Gene

Molecular function for GLUD1 Gene

GENATLAS Biochemistry: glutamate dehydrogenase 1,key enzyme linking glutamate metabolism with the Krebs cycle and catalyzing the conversion of alpha-ketoglutarate controlled by allosteric inhibition by GTP
UniProtKB/Swiss-Prot CatalyticActivity: L-glutamate + H(2)O + NAD(P)(+) = 2-oxoglutarate + NH(3) + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation: Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for GLUD1 Gene

Gene Ontology (GO) - Molecular Function for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004352 glutamate dehydrogenase (NAD+) activity IDA 11903050
GO:0004353 glutamate dehydrogenase [NAD(P)+] activity IDA 11032875
GO:0005515 protein binding IPI 16959573
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IDA 11032875
genes like me logo Genes that share ontologies with GLUD1: view

Phenotypes for GLUD1 Gene

genes like me logo Genes that share phenotypes with GLUD1: view

miRNA for GLUD1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GLUD1 Gene

Localization for GLUD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLUD1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLUD1 Gene COMPARTMENTS Subcellular localization image for GLUD1 gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18688271
GO:0005739 mitochondrion IDA 15578726
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GLUD1: view

Pathways for GLUD1 Gene

genes like me logo Genes that share pathways with GLUD1: view

Gene Ontology (GO) - Biological Process for GLUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process --
GO:0006537 glutamate biosynthetic process IDA 11032875
GO:0006538 glutamate catabolic process IDA 11032875
GO:0006541 glutamine metabolic process ISS --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with GLUD1: view

Compounds for GLUD1 Gene

(11) HMDB Compounds for GLUD1 Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Famotidine
  • Amfamox
76824-35-6
Guanosine triphosphate
  • 5'-GTP
86-01-1
L-Aspartic acid
  • (+)-Aspartate
56-84-8
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0

(6) Drugbank Compounds for GLUD1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate
20398-34-9 target
Guanosine-5'-Triphosphate
86-01-1 target
Hexachlorophene
70-30-4 target inhibitor
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
NADH
  • beta-DPNH
606-68-8 target

(109) Novoseek inferred chemical compound relationships for GLUD1 Gene

Compound -log(P) Hits PubMed IDs
glutamate 92.2 256
alpha-ketoglutarate 88.6 69
adp-ribosylcysteine 76.8 1
nadh 76.2 35
glutamine 76.1 69
genes like me logo Genes that share compounds with GLUD1: view

Transcripts for GLUD1 Gene

Unigene Clusters for GLUD1 Gene

Glutamate dehydrogenase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLUD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4: - - - -
SP5: -

Relevant External Links for GLUD1 Gene

GeneLoc Exon Structure for
GLUD1
ECgene alternative splicing isoforms for
GLUD1

Expression for GLUD1 Gene

mRNA expression in normal human tissues for GLUD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLUD1 Gene

This gene is overexpressed in Liver (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLUD1 Gene

SOURCE GeneReport for Unigene cluster for GLUD1 Gene Hs.500409

genes like me logo Genes that share expressions with GLUD1: view

Orthologs for GLUD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLUD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLUD1 36
  • 99.88 (n)
  • 99.82 (a)
GLUD2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLUD1 36
  • 91.1 (n)
  • 95.88 (a)
GLUD1 37
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 91 (a)
ManyToMany
GLUD1 36
  • 92.49 (n)
  • 98.98 (a)
mouse
(Mus musculus)
Mammalia Glud1 36
  • 92.35 (n)
  • 97.85 (a)
Glud1 16
Glud1 37
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 63 (a)
ManyToMany
-- 37
  • 83 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
ManyToMany
-- 37
  • 97 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Glud1 36
  • 90.74 (n)
  • 96.95 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 91 (a)
OneToMany
GLUD1 36
  • 84.8 (n)
  • 95.37 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 87 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.11458 36
tropical clawed frog
(Silurana tropicalis)
Amphibia glud1 36
  • 79.69 (n)
  • 89.81 (a)
Str.4482 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9944 36
zebrafish
(Danio rerio)
Actinopterygii glud1a 36
  • 75.61 (n)
  • 86.03 (a)
glud1a 37
  • 85 (a)
OneToMany
wufb16e02 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004362 36
  • 66.26 (n)
  • 71.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gdh 36
  • 66.48 (n)
  • 69.19 (a)
Gdh 37
  • 65 (a)
OneToMany
Gdh 38
  • 67 (a)
CG4434 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea gdh-1 36
  • 62.31 (n)
  • 63.78 (a)
gdh-1 37
  • 60 (a)
OneToMany
ZK829.4 38
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDH1 37
  • 25 (a)
ManyToMany
GDH3 37
  • 25 (a)
ManyToMany
GDH3 39
thale cress
(Arabidopsis thaliana)
eudicotyledons GDH2 36
  • 51.72 (n)
  • 46.02 (a)
rice
(Oryza sativa)
Liliopsida Os02g0650900 36
  • 52.62 (n)
  • 46.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10003 37
  • 66 (a)
OneToMany
Species with no ortholog for GLUD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLUD1 Gene

ENSEMBL:
Gene Tree for GLUD1 (if available)
TreeFam:
Gene Tree for GLUD1 (if available)

Paralogs for GLUD1 Gene

Paralogs for GLUD1 Gene

Selected SIMAP similar genes for GLUD1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for GLUD1 Gene

genes like me logo Genes that share paralogs with GLUD1: view

Variants for GLUD1 Gene

Sequence variations from dbSNP and Humsavar for GLUD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs12980 -- 87,050,779(-) CCAAT(A/G)GCCCC utr-variant-3-prime
rs1050306 -- 87,050,742(-) TTTTA(A/G)AGGCT utr-variant-3-prime
rs1050319 -- 87,050,729(-) GCATT(C/T)TGCAC utr-variant-3-prime
rs1050340 -- 87,050,664(-) GAGTT(A/G)TTTGG utr-variant-3-prime
rs1050359 -- 87,050,603(-) TGTAA(A/G)AGTCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GLUD1 Gene

Variant ID Type Subtype PubMed ID
dgv310e1 CNV Complex 17122850
dgv311e1 CNV Complex 17122850
dgv312e1 CNV Complex 17122850
nsv428236 CNV Loss 18775914
essv23924 CNV CNV 17122850
dgv313e1 CNV Complex 17122850
dgv314e1 CNV Complex 17122850
nsv831939 CNV Gain 17160897
nsv895862 CNV Loss 21882294
esv27843 CNV Loss 19812545
nsv8714 CNV Loss 18304495
esv2673849 CNV Deletion 23128226
nsv825493 CNV Gain 20364138

Relevant External Links for GLUD1 Gene

HapMap Linkage Disequilibrium report
GLUD1
Human Gene Mutation Database (HGMD)
GLUD1

Disorders for GLUD1 Gene

(1) OMIM Diseases for GLUD1 Gene (138130)

UniProtKB/Swiss-Prot

DHE3_HUMAN
  • 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:0000269 PubMed:10636977, ECO:0000269 PubMed:11214910, ECO:0000269 PubMed:11297618, ECO:0000269 PubMed:9571255}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GLUD1 Gene

(49) Novoseek inferred disease relationships for GLUD1 Gene

Disease -log(P) Hits PubMed IDs
hyperinsulinism-hyperammonemia syndrome 92.2 10
hyperinsulinism 86.5 33
hyperammonemia 79.9 32
hypoglycemia 62.4 6
olivopontocerebellar atrophies 47.7 2

Genatlas disease for GLUD1 Gene

hyperinsulinism-hyperammonemia syndrome characterized by hyperinsulinemic hypoglycemia with concomittant hyperammonemia

Relevant External Links for GLUD1

GeneTests
GLUD1
GeneReviews
GLUD1
Genetic Association Database (GAD)
GLUD1
Human Genome Epidemiology (HuGE) Navigator
GLUD1
genes like me logo Genes that share disorders with GLUD1: view

Publications for GLUD1 Gene

  1. The human glutamate dehydrogenase gene family: gene organization and structural characterization. (PMID: 8486350) Michaelidis T.M. … Papamatheakis J. (Genomics 1993) 3 4 23
  2. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. (PMID: 9571255) Stanley C.A. … Poncz M. (N. Engl. J. Med. 1998) 3 4 23
  3. Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2. (PMID: 8314555) Tzimagiorgis G. … Moschonas N.K. (Hum. Genet. 1993) 3 4 23
  4. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (PMID: 11214910) Santer R. … Schaub J. (Hum. Genet. 2001) 3 4 23
  5. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. (PMID: 11297618) MacMullen C. … van Vliet G. (J. Clin. Endocrinol. Metab. 2001) 3 4 23

Products for GLUD1 Gene

Sources for GLUD1 Gene

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