Human Gene GLUD1 (ENST00000277865.5_7) from GENCODE V47lift37
  Description: glutamate dehydrogenase 1, transcript variant 1 (from RefSeq NM_005271.5)
Gencode Transcript: ENST00000277865.5_7
Gencode Gene: ENSG00000148672.10_15
Transcript (Including UTRs)
   Position: hg19 chr10:88,809,959-88,854,600 Size: 44,642 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr10:88,811,508-88,854,526 Size: 43,019 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:88,809,959-88,854,600)mRNA (may differ from genome)Protein (558 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHE3_HUMAN
DESCRIPTION: RecName: Full=Glutamate dehydrogenase 1, mitochondrial; Short=GDH 1; EC=1.4.1.3; Flags: Precursor;
FUNCTION: May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity).
CATALYTIC ACTIVITY: L-glutamate + H(2)O + NAD(P)(+) = 2- oxoglutarate + NH(3) + NAD(P)H.
ENZYME REGULATION: Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme.
SUBUNIT: Homohexamer.
SUBCELLULAR LOCATION: Mitochondrion matrix.
PTM: Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.
DISEASE: Defects in GLUD1 are the cause of familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]; also known as hyperinsulinism-hyperammonemia syndrome (HHS). 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.
SIMILARITY: Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLUD1";
WEB RESOURCE: Name=Wikipedia; Note=Glutamate dehydrogenase 1 entry; URL="http://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GLUD1
Diseases sorted by gene-association score: hyperinsulinism-hyperammonemia syndrome* (1591), glud1-related hyperinsulinism* (500), hyperinsulinism (42), hypoglycemia (24), hyperinsulinemic hypoglycemia (21), hyperammonemia (19), spinocerebellar degeneration (17), lacrimal gland adenoid cystic carcinoma (9), canavan disease (8), 3-hydroxyacyl-coa dehydrogenase deficiency (7), fasting hypoglycemia (7), monocarboxylate transporter 1 deficiency (5), endometritis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 170.43 RPKM in Liver
Total median expression: 2831.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.7074-0.280 Picture PostScript Text
3' UTR -360.701549-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006095 - Glu/Leu/Phe/Val_DH
IPR006096 - Glu/Leu/Phe/Val_DH_C
IPR006097 - Glu/Leu/Phe/Val_DH_dimer_dom
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF00208 - Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
PF02812 - Glu/Leu/Phe/Val dehydrogenase, dimerisation domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain
53223 - Aminoacid dehydrogenase-like, N-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1L1F - X-ray MuPIT 1NR1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P00367
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
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:0055114 oxidation-reduction process
GO:0072350 tricarboxylic acid metabolic process

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


-  Descriptions from all associated GenBank mRNAs
  AF086070 - Homo sapiens full length insert cDNA clone YZ35C09.
LF384978 - JP 2014500723-A/192481: Polycomb-Associated Non-Coding RNAs.
X07674 - Human mRNA for glutamate dehydrogenase (EC 1.4.1.3., GDH).
BC112946 - Homo sapiens glutamate dehydrogenase 1, mRNA (cDNA clone MGC:132003 IMAGE:6138490), complete cds.
GQ891382 - Homo sapiens clone HEL-S-177n epididymis secretory sperm binding protein mRNA, complete cds.
M20867 - Human glutamate dehydrogenase (GDH) mRNA, complete cds.
AB209406 - Homo sapiens mRNA for glutamate dehydrogenase 1 variant protein.
AK122685 - Homo sapiens cDNA FLJ16138 fis, clone BRALZ2017531, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
M37154 - Human glutamate dehydrogenase (GDH) mRNA, complete cds.
X07769 - Human mRNA for glutamate dehydrogenase (Glud-1, EC 1.4.1.3).
J03248 - Human liver glutamate dehydrogenase mRNA, complete cds.
AK094782 - Homo sapiens cDNA FLJ37463 fis, clone BRAWH2011400, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
LF333944 - JP 2014500723-A/141447: Polycomb-Associated Non-Coding RNAs.
JD209555 - Sequence 190579 from Patent EP1572962.
JD320950 - Sequence 301974 from Patent EP1572962.
JD320951 - Sequence 301975 from Patent EP1572962.
JD295572 - Sequence 276596 from Patent EP1572962.
JD420705 - Sequence 401729 from Patent EP1572962.
JD137160 - Sequence 118184 from Patent EP1572962.
LF333942 - JP 2014500723-A/141445: Polycomb-Associated Non-Coding RNAs.
BC040132 - Homo sapiens glutamate dehydrogenase 1, mRNA (cDNA clone MGC:48805 IMAGE:5740251), complete cds.
JD475788 - Sequence 456812 from Patent EP1572962.
JD284339 - Sequence 265363 from Patent EP1572962.
JD021385 - Sequence 2409 from Patent EP1572962.
JD024187 - Sequence 5211 from Patent EP1572962.
JD403164 - Sequence 384188 from Patent EP1572962.
JD272115 - Sequence 253139 from Patent EP1572962.
JD029818 - Sequence 10842 from Patent EP1572962.
AK297456 - Homo sapiens cDNA FLJ55926 complete cds, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
AK297441 - Homo sapiens cDNA FLJ55493 complete cds, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
JD130228 - Sequence 111252 from Patent EP1572962.
JD434656 - Sequence 415680 from Patent EP1572962.
LF333940 - JP 2014500723-A/141443: Polycomb-Associated Non-Coding RNAs.
AK303458 - Homo sapiens cDNA FLJ56193 complete cds, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
AK294685 - Homo sapiens cDNA FLJ55203 complete cds, highly similar to Glutamate dehydrogenase 1, mitochondrial precursor (EC 1.4.1.3).
JD101323 - Sequence 82347 from Patent EP1572962.
M17697 - Human glutamate dehydrogenase mRNA.
AK222818 - Homo sapiens mRNA for glutamate dehydrogenase 1 variant, clone: HEP04613.
JD420683 - Sequence 401707 from Patent EP1572962.
JD199196 - Sequence 180220 from Patent EP1572962.
JD355719 - Sequence 336743 from Patent EP1572962.
JD326583 - Sequence 307607 from Patent EP1572962.
DL492062 - Novel nucleic acids.
GU727646 - Homo sapiens epididymis tissue sperm binding protein Li 18mP mRNA, complete cds.
KJ896891 - Synthetic construct Homo sapiens clone ccsbBroadEn_06285 GLUD1 gene, encodes complete protein.
AB590770 - Synthetic construct DNA, clone: pFN21AE1982, Homo sapiens GLUD1 gene for glutamate dehydrogenase 1, without stop codon, in Flexi system.
DL490611 - Novel nucleic acids.
LF333939 - JP 2014500723-A/141442: Polycomb-Associated Non-Coding RNAs.
LF333938 - JP 2014500723-A/141441: Polycomb-Associated Non-Coding RNAs.
LF333937 - JP 2014500723-A/141440: Polycomb-Associated Non-Coding RNAs.
AK311722 - Homo sapiens cDNA, FLJ18764.
LF333934 - JP 2014500723-A/141437: Polycomb-Associated Non-Coding RNAs.
LF333933 - JP 2014500723-A/141436: Polycomb-Associated Non-Coding RNAs.
LF333932 - JP 2014500723-A/141435: Polycomb-Associated Non-Coding RNAs.
LF333931 - JP 2014500723-A/141434: Polycomb-Associated Non-Coding RNAs.
LF333922 - JP 2014500723-A/141425: Polycomb-Associated Non-Coding RNAs.
LF333911 - JP 2014500723-A/141414: Polycomb-Associated Non-Coding RNAs.
LF333903 - JP 2014500723-A/141406: Polycomb-Associated Non-Coding RNAs.
JD561604 - Sequence 542628 from Patent EP1572962.
JD056983 - Sequence 38007 from Patent EP1572962.
MA620555 - JP 2018138019-A/192481: Polycomb-Associated Non-Coding RNAs.
MA569521 - JP 2018138019-A/141447: Polycomb-Associated Non-Coding RNAs.
MA569519 - JP 2018138019-A/141445: Polycomb-Associated Non-Coding RNAs.
MA569517 - JP 2018138019-A/141443: Polycomb-Associated Non-Coding RNAs.
MA569516 - JP 2018138019-A/141442: Polycomb-Associated Non-Coding RNAs.
MA569515 - JP 2018138019-A/141441: Polycomb-Associated Non-Coding RNAs.
MA569514 - JP 2018138019-A/141440: Polycomb-Associated Non-Coding RNAs.
MA569511 - JP 2018138019-A/141437: Polycomb-Associated Non-Coding RNAs.
MA569510 - JP 2018138019-A/141436: Polycomb-Associated Non-Coding RNAs.
MA569509 - JP 2018138019-A/141435: Polycomb-Associated Non-Coding RNAs.
MA569508 - JP 2018138019-A/141434: Polycomb-Associated Non-Coding RNAs.
MA569499 - JP 2018138019-A/141425: Polycomb-Associated Non-Coding RNAs.
MA569488 - JP 2018138019-A/141414: Polycomb-Associated Non-Coding RNAs.
MA569480 - JP 2018138019-A/141406: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
ARGININE-SYN4-PWY - ornithine de novo biosynthesis
GLUDEG-I-PWY - GABA shunt
GLUTAMATE-SYN2-PWY - L-glutamate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P00367 (Reactome details) participates in the following event(s):

R-HSA-5688276 SIRT4 transfers ADPRib to GLUD
R-HSA-5688289 SIRT3 deacetylates ACCS2, GLUD, IDH2, SOD2
R-HSA-70589 alpha-ketoglutarate + NH4+ + NAD(P)H + H+ <=> glutamate + NAD(P)+ [GLUD1]
R-HSA-70600 glutamate + NAD(P)+ => alpha-ketoglutarate + NH4+ + NAD(P)H + H+ [GLUD1]
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3KV55, B4DGN5, DHE3_HUMAN, ENST00000277865.1, ENST00000277865.2, ENST00000277865.3, ENST00000277865.4, GLUD, NM_005271, P00367, Q5TBU3, uc317jni.1, uc317jni.2
UCSC ID: ENST00000277865.5_7
RefSeq Accession: NM_005271.5
Protein: P00367 (aka DHE3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GLUD1:
hi (Nonsyndromic Genetic Hyperinsulinism Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.