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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GLUD1 Gene

protein-coding   GIFtS: 69
GCID: GC10M088809

Glutamate Dehydrogenase 1


(Previous symbol: GLUD)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glutamate Dehydrogenase 11 2     GDH12
GLUD1 2 3     Glutamate Dehydrogenase (NAD(P)+)2
GDH 12 3     Glutamate Dehydrogenase 1, Mitochondrial2
EC 1.4.1.33 8     EC 1.4.18
GDH2     

External Ids:    HGNC: 43351   Entrez Gene: 27462   Ensembl: ENSG000001486727   OMIM: 1381305   UniProtKB: P003673   

Export aliases for GLUD1 gene to outside databases

Previous GC identifers: GC10M087691 GC10M088031 GC10M088941 GC10M088474 GC10M088800 GC10M082663


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and hyperinsulinism-hyperammonemia syndrome, and among its related super-pathways are Metabolic pathways and Urea cycle and metabolism of amino groups. GO annotations related to this gene include ADP binding and GTP binding. An important paralog of this gene is GLUD2.

UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367
Function: May be involved in learning and memory reactions by increasing the turnover of the excitatory
neurotransmitter glutamate (By similarity)

Gene Wiki entry for GLUD1 (Glutamate dehydrogenase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLUD1 gene promoter:
         HOXA9B   HOXA9   ER-alpha   Elk-1   Pax-2   Pax-2a   FOXJ2 (long isoform)   ZIC2/Zic2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLUD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GLUD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLUD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.3   Ensembl cytogenetic band:  10q23.2   HGNC cytogenetic band: 10q23.2

GLUD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLUD1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M088809:  view genomic region     (about GC identifiers)

Start:
88,809,959 bp from pter      End:
88,854,776 bp from pter
Size:
44,818 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367 (See protein sequence)
Recommended Name: Glutamate dehydrogenase 1, mitochondrial precursor  
Size: 558 amino acids; 61398 Da
Subunit: Homohexamer
Subcellular location: Mitochondrion matrix
2 PDB 3D structures from and Proteopedia for GLUD1:
1L1F (3D)        1NR1 (3D)    
Secondary accessions: Q5TBU3

Explore the universe of human proteins at neXtProt for GLUD1: NX_P00367

Explore proteomics data for GLUD1 at MOPED 

Post-translational modifications:

  • UniProtKB: Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00367

  • 4/27 DME Specific Peptides for GLUD1 (P00367) (see all 27)
     QGFGNVG  ARRHYSE  ACVTGKP  GSILEAD 

    GLUD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLUD1 Protein Expression
    REFSEQ proteins: NP_005262.1  
    ENSEMBL proteins: 
     ENSP00000277865   ENSP00000444732   ENSP00000439291  
    Reactome Protein details: P00367
    Human Recombinant Protein Products for GLUD1: 
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    Novus Biologicals GLUD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18688271
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    GLUD1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR006096 Glu/Leu/Phe/Val_DH_C
     IPR006095 Glu/Leu/Phe/Val_DH
     IPR016040 NAD(P)-bd_dom
     IPR006097 Glu/Leu/Phe/Val_DH_dimer_dom

    Graphical View of Domain Structure for InterPro Entry P00367

    ProtoNet protein and cluster: P00367

    1 Blocks protein domain: IPB006095 Glu/Leu/Phe/Val dehydrogenase

    UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367
    Similarity: Belongs to the Glu/Leu/Phe/Val dehydrogenases family


    GLUD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHE3_HUMAN, P00367
    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

         Genatlas biochemistry entry for GLUD1:
    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

         Enzyme Numbers (IUBMB): EC 1.4.1.31 2 EC 1.4.12

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004352glutamate dehydrogenase (NAD+) activity IDA11903050
    GO:0004353glutamate dehydrogenase [NAD(P)+] activity IDA11032875
    GO:0005515protein binding IPI16959573
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IDA11032875
         
    GLUD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GLUD1:
     Cell cycle / mitosis defect 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Glud1):
     endocrine/exocrine gland  growth/size  homeostasis/metabolism 

    GLUD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLUD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GLUD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLUD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLUD1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidGLUD1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector: GLUD1 (NM_005271)
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                         Customized lentivirus expression plasmids for stable overexpression of GLUD1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLUD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GLUD1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    3Reversible Hydration of Carbon Dioxide
    Nitrogen metabolism0.67
    4glutamine degradation I
    D-Glutamine and D-glutamate metabolism0.40
    5Proximal tubule bicarbonate reclamation
    Proximal tubule bicarbonate reclamation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for GLUD1
        Neuroscience
    Glucose / Energy Metabolism

    1 BioSystems Pathway for GLUD1
        Urea cycle and metabolism of amino groups

    3        Reactome Pathways for GLUD1
        Metabolism
    Amino acid synthesis and interconversion (transamination)
    Metabolism of amino acids and derivatives


    5/6         Kegg Pathways  (Kegg details for GLUD1) (see all 6):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    D-Glutamine and D-glutamate metabolism
    Nitrogen metabolism
    Metabolic pathways


    GLUD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GLUD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/343 Interacting proteins for GLUD1 (P003672, 3 ENSP000002778654) via UniProtKB, MINT, STRING, and/or I2D (see all 343)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132332, 3MINT-48295 I2D: score=2 
    MAP3K14Q995582, 3MINT-48817 I2D: score=2 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    GCKP355573, ENSP000002233664I2D: score=1 STRING: ENSP00000223366
    HDAC5Q9UQL63, ENSP000002259834I2D: score=1 STRING: ENSP00000225983
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process ----
    GO:0006537glutamate biosynthetic process IDA11032875
    GO:0006538glutamate catabolic process IDA11032875
    GO:0006541glutamine metabolic process ISS--
    GO:0008652cellular amino acid biosynthetic process TAS--

    GLUD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GLUD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GLUD1 (DHE3)

    10/11 HMDB Compounds for GLUD1 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    FamotidineAmfamox (see all 83)76824-35-6--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--

    6 DrugBank Compounds for GLUD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Triphosphate-- 86-01-1target--17139284 17016423 10592235
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 8288265 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423
    Hexachlorophene-- 70-30-4targetinhibitor570044 19531491
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    10/109 Novoseek inferred chemical compound relationships for GLUD1 gene (see all 109)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 92.2 1268 8271111 (6), 11722565 (6), 2359406 (6), 11746417 (5) (see all 99)
    alpha-ketoglutarate 88.6 92 11679254 (2), 17269701 (2), 15895690 (2), 19376872 (2) (see all 60)
    adp-ribosylcysteine 76.8 1 11350929 (1)
    nadh 76.2 51 17269701 (2), 2007403 (2), 10684881 (2), 15236246 (2) (see all 30)
    glutamine 76.1 93 7915141 (4), 11872671 (2), 10516271 (2), 8971000 (2) (see all 59)
    nad+ 74.2 31 12193607 (4), 10684881 (2), 7811694 (1), 11350929 (1) (see all 18)
    aspartate 73.4 83 17078811 (2), 8154228 (2), 1799375 (1), 8000794 (1) (see all 67)
    malate 71.6 26 7945441 (2), 8584799 (2), 2082781 (1), 10535746 (1) (see all 22)
    acetylpyridine adenine dinucleotide 70.9 3 15165751 (1), 7912492 (1)
    gtp 70.3 92 11600502 (8), 11903050 (6), 10453735 (4), 11297618 (3) (see all 30)

    Search CenterWatch for drugs/clinical trials and news about GLUD1 / DHE3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GLUD1 gene: 
    NM_005271.3  

    Unigene Cluster for GLUD1:

    Glutamate dehydrogenase 1
    Hs.500409  [show with all ESTs]
    Unigene Representative Sequence: NM_005271
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000277865(uc001keh.3) ENST00000487058 ENST00000465164 ENST00000474574
    ENST00000544149 ENST00000537649(uc001keg.3 uc010qmp.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate GLUD1 (see all 35):
    hsa-miR-15a hsa-miR-30d hsa-miR-374a* hsa-miR-4314 hsa-miR-183* hsa-miR-1244 hsa-miR-9 hsa-miR-424
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLUD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLUD1
    Sirion Biotech Customized lentivirus for stable overexpression of GLUD1 
                         Customized lentivirus expression plasmids for stable overexpression of GLUD1 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLUD1

    Additional mRNA sequence: 

    AF086070.1 AK094782.1 AK122685.1 AK222818.1 AK294685.1 AK297441.1 AK297456.1 AK303458.1 
    AK311722.1 BC040132.1 BC112946.1 GU727646.1 J03248.1 M17697.1 M20867.1 M37154.1 
    X07674.1 X07769.1 

    22 DOTS entries:

    DT.454907  DT.101962257  DT.100818693  DT.91769355  DT.102840028  DT.91769361  DT.99982198  DT.100818694 
    DT.40111902  DT.91769354  DT.100818695  DT.40297415  DT.91769352  DT.97766798  DT.100760791  DT.121227320 
    DT.121227329  DT.121227338  DT.303589  DT.91769357  DT.95242250  DT.95355575 

    24/477 AceView cDNA sequences (see all 477):

    F05499 BM793768 CB123998 BG285834 BM848484 BM801548 BG564674 AI753411 
    AI346963 N31622 BU684723 AW299819 BG256247 BG402958 AI139103 AA576838 
    AI424426 AU123155 BQ440777 AA383708 BQ007959 CD673630 N20253 X07674 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GLUD1    About this scheme

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


    ECgene alternative splicing isoforms for GLUD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GLUD1 expression in normal human tissues (normalized intensities)      GLUD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTAACCTG
    GLUD1 Expression
    About this image


    GLUD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See GLUD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLUD1

    SOURCE GeneReport for Unigene cluster: Hs.500409
        SABiosciences Expression via Pathway-Focused PCR Arrays including GLUD1: 
              Amino Acid Metabolism I in human mouse rat
              Necrosis in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GLUD1 gene from 10/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glud11 , 5 glutamate dehydrogenase 11, 5 92.35(n)1
    97.85(a)1
      14 (20.80 cM)5
    146611  NM_008133.41  NP_032159.11 
     343107275 
    chicken
    (Gallus gallus)
    Aves GLUD11 glutamate dehydrogenase 1 83.89(n)
    94.02(a)
      423612  XM_421497.3  XP_421497.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLUD16
    GLUD26
    Glutamate dehydrogenase
    87(a)
    67(a)
    possible ortholog
    possible ortholog
    GL343199.1(4105571-4144227)
    GL343526.1(439687-463559)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114582 Xenopus laevis transcribed sequence with moderate similarity more 79.78(n)    CD326857.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb16e022 wufb16e02 79.83(n)   321470  BC063940.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gdh1 , 3 glutamate dehydrogenase (NAD(P)+)3
    Glutamate dehydrogenase1
    67(a)
    (best of 2)3
    66.79(n)1
    69.52(a)1
      428321  NM_079746.51  NP_524470.41 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK829.43
    gdh-11
    glutamate dehydrogenase3
    Protein GDH-11
    62(a)3
    62.24(n)1
    63.78(a)1
      IV(11953424-11955386)3
    1781301  NM_069866.31  NP_502267.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GDH3(YAL062W)4 NADP(+)-dependent glutamate dehydrogenase, synthesizes more   --   1(31567-32940) 851237  NP_009339.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GDH21 glutamate dehydrogenase 2 52.84(n)
    48.55(a)
      830635  NM_001125711.1  NP_001119183.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06509001 hypothetical protein 52.95(n)
    47.59(a)
      4330164  NM_001054124.1  NP_001047589.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLUD1 gene
    GLUD22  
    1 SIMAP similar gene for GLUD1 using alignment to 6 protein entries:     DHE3_HUMAN (see all proteins):
    GLUD2

    GLUD1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GLUD1
    PGOHUM00000235074 PGOHUM00000241496


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/902 SNPs in GLUD1 are shown (see all 902)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0092714
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0092712 E A mis40--------
    VAR_0167654
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0167652 R H mis40--------
    VAR_0167604
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0167602 S C mis40--------
    VAR_0167644
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0167642 R C mis40--------
    VAR_0086704
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0086702 H Y mis40--------
    VAR_0092704
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0092702 R K mis40--------
    VAR_0167634
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0167632 Y C mis40--------
    VAR_0086694
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0086692 S P mis40--------
    VAR_0086664
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0086662 S L mis40--------
    VAR_0086674
    Familial hyperinsulinemic hypoglycemia 6 (HHF6)4--see VAR_0086672 G D mis40--------

    HapMap Linkage Disequilibrium report for GLUD1 (88809959 - 88854776 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for GLUD1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673849CNV Deletion23128226
    nsv895862CNV Loss21882294
    nsv8714CNV Loss18304495
    nsv428236CNV Loss18775914
    esv27843CNV Loss19812545
    nsv831939CNV Gain17160897
    nsv825493CNV Gain20364138
    essv23924CNV CNV17122850
    dgv312e1CNV Complex17122850
    dgv310e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): GLUD1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138130   
    OMIM disorders: 606762  
    UniProtKB/Swiss-Prot: DHE3_HUMAN, P00367
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/68 diseases for GLUD1 (see all 68):    About MalaCards
    hyperinsulinism    hyperinsulinism-hyperammonemia syndrome    spinocerebellar degeneration    glud1-related hyperinsulinism
    leucine-sensitive hypoglycemia of infancy    fasting hypoglycemia    lead poisoning    clostridium difficile
    familial hyperinsulinism    hyperinsulinemic hypoglycemia    olivopontocerebellar atrophy    3-hydroxyacyl-coa dehydrogenase deficiency
    succinic semialdehyde dehydrogenase deficiency    drug-induced hepatitis    canavan disease    hypoglycemia
    maple syrup urine disease    endometritis    multiple system atrophy    alpha 1-antitrypsin deficiency

    3 diseases from the University of Copenhagen DISEASES database for GLUD1:
    Hyperinsulinemic hypoglycemia     Hyperinsulinism     Hypoglycemia

    GLUD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/49 Novoseek inferred disease relationships for GLUD1 gene (see all 49)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperinsulinism-hyperammonemia syndrome 92.2 16 15232227 (2), 9571255 (2), 11214910 (2), 19625687 (1) (see all 7)
    hyperinsulinism 86.5 49 11201367 (3), 16492430 (2), 16492972 (2), 11502802 (2) (see all 27)
    hyperammonemia 79.9 43 16492972 (2), 11502802 (2), 15050973 (2), 11201367 (2) (see all 25)
    hypoglycemia 62.4 7 11872671 (1), 12444083 (1), 15530324 (1), 15756227 (1) (see all 6)
    olivopontocerebellar atrophies 47.7 3 7914669 (1), 8433819 (1)
    liver damage 44 4 10611993 (1), 7493878 (1), 18687108 (1), 8536056 (1)
    spinocerebellar degenerations 39.8 3 1740378 (2), 8197908 (1)
    encephalopathies metabolic 33.8 1 8122033 (1)
    insulinoma 30.3 2 11872671 (1), 14532172 (1)
    ketosis 28.9 1 9465772 (1)

    Genatlas disease: GLUD1
    hyperinsulinism-hyperammonemia syndrome characterized by hyperinsulinemic hypoglycemia with concomittant
    hyperammonemia

    GeneTests: GLUD1
    GeneReviews: GLUD1
    Genetic Association Database (GAD): GLUD1
    Human Genome Epidemiology (HuGE) Navigator: GLUD1 (6 documents)

    Export disorders for GLUD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GLUD1 gene, integrated from 9 sources (see all 553):
    (articles sorted by number of sources associating them with GLUD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. (PubMed id 11903050)1, 2, 9 Fang J....Stanley C.A. (2002)
    2. Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2. (PubMed id 8314555)1, 2, 9 Tzimagiorgis G....Moschonas N.K. (1993)
    3. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. (PubMed id 11297618)1, 2, 9 MacMullen C.... van Vliet G. (2001)
    4. The human glutamate dehydrogenase gene family: gene organization and structural characterization. (PubMed id 8486350)1, 2, 9 Michaelidis T.M.... Papamatheakis J. (1993)
    5. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (PubMed id 11214910)1, 2, 9 Santer R.... Schaub J. (2001)
    6. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. (PubMed id 9571255)1, 2, 9 Stanley C.A.... Poncz M. (1998)
    7. Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation. (PubMed id 12653548)1, 2, 9 Banerjee S.... Smith T.J. (2003)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    9. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    10. Common variants conferring risk of schizophrenia: a p athway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2746 HGNC: 4335 AceView: GLUD1 Ensembl:ENSG00000148672 euGenes: HUgn2746
    ECgene: GLUD1 Kegg: 2746 H-InvDB: GLUD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GLUD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLUD1
    Wikipedia http://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLUD1 gene:
    Search GeneIP for patents involving GLUD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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