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GCDH Gene

protein-coding   GIFtS: 65
GCID: GC19P013001

Glutaryl-CoA Dehydrogenase

(Previous name: glutaryl-Coenzyme A dehydrogenase)
  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)
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Aliases
Glutaryl-CoA Dehydrogenase1 2     Glutaryl-CoA Dehydrogenase, Mitochondrial2
Glutaryl-Coenzyme A Dehydrogenase1 2     EC 1.3.8.63
GCD2 3     EC 1.3.998
ACAD52     EC 1.3.99.78

External Ids:    HGNC: 41891   Entrez Gene: 26392   Ensembl: ENSG000001056077   OMIM: 6088015   UniProtKB: Q929473   

Export aliases for GCDH gene to outside databases

Previous GC identifers: GC19P013133 GC19P013224 GC19P012847 GC19P012862 GC19P012863 GC19P012573


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GCDH Gene:
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative
decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine,
L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor.
The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result
in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative
splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on
chromosome 12. (provided by RefSeq, Mar 2013)

GeneCards Summary for GCDH Gene:
GCDH (glutaryl-CoA dehydrogenase) is a protein-coding gene. Diseases associated with GCDH include organic acidemia, and glutaric acidemia type i. GO annotations related to this gene include fatty-acyl-CoA binding and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.

UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947
Function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative
pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its
electron acceptor. Isoform Short is inactive




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GCDH gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGCDH promoter sequence
   Search Chromatin IP Primers for GCDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GCDH


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P013001:  view genomic region     (about GC identifiers)

Start:
13,001,840 bp from pter      End:
13,025,021 bp from pter
Size:
23,182 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947 (See protein sequence)
Recommended Name: Glutaryl-CoA dehydrogenase, mitochondrial precursor  
Size: 438 amino acids; 48127 Da
Cofactor: FAD
Subunit: Homotetramer
4 PDB 3D structures from and Proteopedia for GCDH:
1SIQ (3D)        1SIR (3D)        2R0M (3D)        2R0N (3D)    
Secondary accessions: A8K2Z2 O14719
Alternative splicing: 2 isoforms:  Q92947-1   Q92947-2   

Explore the universe of human proteins at neXtProt for GCDH: NX_Q92947

Explore proteomics data for GCDH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GCDH (Q92947) (see all 9)
     FGLTEPN  VWARCED  VNTYEGTHD  PIYAYGSEEQ 


    See GCDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000150.1  NP_039663.1  

    ENSEMBL proteins: 
     ENSP00000222214   ENSP00000465618   ENSP00000466845   ENSP00000468125   ENSP00000468452  
     ENSP00000465770   ENSP00000468584   ENSP00000468625   ENSP00000467735   ENSP00000394872  
     ENSP00000394821  
    Reactome Protein details: Q92947

    GCDH Human Recombinant Protein Products:

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    Novus Biologicals GCDH Proteins
    Novus Biologicals GCDH Lysates
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    ProSpec Recombinant Protein for GCDH
    Cloud-Clone Corp. Proteins for GCDH

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    Cloud-Clone Corp. CLIAs for GCDH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR009075 AcylCo_DH/oxidase_C

    Graphical View of Domain Structure for InterPro Entry Q92947

    ProtoNet protein and cluster: Q92947

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    GCDH 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GCDH_HUMAN, Q92947
    Function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative
    pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its
    electron acceptor. Isoform Short is inactive
    Catalytic activity: Glutaryl-CoA + electron-transfer flavoprotein = crotonyl-CoA + CO(2) + reduced
    electron-transfer flavoprotein
    Enzyme regulation: Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit
    of the ackee tree
    Biophysicochemical properties: Kinetic parameters: KM=4.7 uM for glutaryl-CoA (at pH 6.5); KM=5.5 uM for
    glutaryl-CoA (at pH 7.5); KM=8.1 uM for glutaryl-CoA (at pH 7.6); KM=34.0 uM for glutaryl-CoA (at pH 8.5);
    Note=Release of crotonyl-CoA product from the enzyme is the rate-determining step in its steady-state turnover;

         Genatlas biochemistry entry for GCDH:
    glutaryl-CoA dehydrogenase,flavoprotein dependent,mitochondrial matrix,lysine oxidation

         Enzyme Numbers (IUBMB): EC 1.3.99.72 EC 1.3.992 EC 1.3.8.61

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003995acyl-CoA dehydrogenase activity ----
    GO:0004361glutaryl-CoA dehydrogenase activity EXP--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
         
    GCDH for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gcdh):
     behavior/neurological  homeostasis/metabolism  nervous system  renal/urinary system 

    GCDH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GCDH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GCDH

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GCDH using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GCDH:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGCDH 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GCDH

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GCDH (NM_000159)
    Sino Biological Human cDNA Clone for GCDH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCDH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCDH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GCDH_HUMAN, Q92947: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    GCDH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GCDH About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3tryptophan utilization II
    tryptophan utilization II0.71
    tryptophan degradation0.00
    tryptophan utilization I0.71
    glutaryl-CoA degradation0.00
    4Metabolism of amino acids and derivatives
    Lysine catabolism0.00
    Metabolism of amino acids and derivatives
    5Fatty acid metabolism
    Fatty acid degradation0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for GCDH (see all 6)
        glutaryl-CoA degradation
    Fatty Acid Beta Oxidation
    Tryptophan metabolism
    tryptophan degradation
    tryptophan utilization II


    1 Reactome Pathway for GCDH
        Lysine catabolism


    4 Kegg Pathways  (Kegg details for GCDH):
        Fatty acid degradation
    Lysine degradation
    Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947
    Pathway: Amino-acid metabolism; lysine degradation
    Pathway: Amino-acid metabolism; tryptophan metabolism


    GCDH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GCDH: 

              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GCDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for GCDH (Q929471, 3 ENSP000002222144) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOS3P294741, 3EBI-1236978,EBI-1391623 I2D: score=1 
    PSEN1P497681, 3EBI-1236978,EBI-297277 I2D: score=1 
    GRB2P629931, 3, ENSP000003390074EBI-1236978,EBI-401755 I2D: score=1 STRING: ENSP00000339007
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    ECSITQ9BQ953, ENSP000002705174I2D: score=1 STRING: ENSP00000270517
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006554lysine catabolic process TAS--
    GO:0006568tryptophan metabolic process IEA--
    GO:0006637acyl-CoA metabolic process ----
    GO:0008152metabolic process ----
    GO:0019395fatty acid oxidation IEA--

    GCDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GCDH

    Selected HMDB Compounds for GCDH (see all 36)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    2 DrugBank Compounds for GCDH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423
    S-4-Nitrobutyryl-Coa-- --target--17139284 17016423

    10 Novoseek inferred chemical compound relationships for GCDH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-hydroxyglutaric acid 97.8 3 14598231 (1), 17356845 (1), 18775954 (1)
    glutaric acid 95.4 10 11854167 (1), 14598231 (1), 17356845 (1), 15505389 (1) (see all 7)
    glutarylcarnitine 95.3 1 14598231 (1)
    glutaconic acid 92.2 1 15505389 (1)
    glutaryl-coa 90.2 2 12473778 (1), 16377226 (1)
    hydroxylysine 81.5 6 17879145 (1), 16466958 (1), 16641220 (1), 9600243 (1) (see all 5)
    carnitine 68.7 1 17957492 (1)
    acyl-coa 58.8 5 17176108 (1), 10960496 (1)
    lysine 49.6 6 16446282 (1), 16466958 (1), 9633984 (1), 9600243 (1) (see all 5)
    riboflavin 43 2 16377226 (2)



    GCDH for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GCDH gene (2 alternative transcripts): 
    NM_000159.3  NM_013976.3  

    Unigene Cluster for GCDH:

    Glutaryl-CoA dehydrogenase
    Hs.532699  [show with all ESTs]
    Unigene Representative Sequence: AK296446
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222214(uc002mvq.3 uc010xmt.2) ENST00000589039 ENST00000421816(uc010xms.2)
    ENST00000591470 ENST00000590445 ENST00000590530 ENST00000588905 ENST00000587072
    ENST00000590627 ENST00000587832 ENST00000585420 ENST00000585760 ENST00000591043
    ENST00000590472 ENST00000591050 ENST00000588242 ENST00000457854(uc002mvp.3)
    ENST00000422947(uc010xmu.2)
    miRNA
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    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGCDH 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): GCDH (NM_000159)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCDH
    Primer
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    OriGene qPCR primer pairs and template standards for GCDH
    OriGene qSTAR qPCR primer pairs in human, mouse for GCDH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCDH
      QuantiTect SYBR Green Assays in human, mouse, rat GCDH
      QuantiFast Probe-based Assays in human, mouse, rat GCDH

    Additional mRNA sequence: 

    AK098370.1 AK290407.1 AK296446.1 AK298772.1 AK300841.1 AK309892.1 BC002579.2 BT006706.1 
    U69141.1 

    14 DOTS entries:

    DT.415866  DT.100773302  DT.121410645  DT.121410639  DT.95088952  DT.100757337  DT.40132113  DT.100700204 
    DT.100829507  DT.121410591  DT.92434797  DT.95088957  DT.100843711  DT.99959158 

    Selected AceView cDNA sequences (see all 225):

    Z41427 AU076472 BI755368 BU527096 BM831180 CR599782 AU118972 AA322355 
    CA432442 BF062558 BM830975 BM818774 NM_000159 BM825641 NM_013976 CR612140 
    BI754921 AU139663 BQ068107 CR618805 AW615668 BX090910 AI307154 CR626122 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GCDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGCAACTC
    GCDH Expression
    About this image


    GCDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GCDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GCDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532699

    UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947
    Tissue specificity: Isoform 1 and isoform 2 are expressed in fibroblasts and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GCDH: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GCDH
    OriGene qSTAR qPCR primer pairs in human, mouse for GCDH
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GCDH gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gcdh1 , 5 glutaryl-Coenzyme A dehydrogenase1, 5 83.52(n)1
    87.59(a)1
      8 (41.28 cM)5
    2700761  NM_008097.21  NP_032123.31 
     848863935 
    chicken
    (Gallus gallus)
    Aves GCDH1 glutaryl-CoA dehydrogenase 79.06(n)
    82.3(a)
      771098  XM_001231725.3  XP_001231726.3 
    lizard
    (Anolis carolinensis)
    Reptilia GCDH6
    glutaryl-CoA dehydrogenase
    73(a)
    1 ↔ 1
    2(27705187-27723446)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.67132 Xenopus laevis transcribed sequence with weak similarity more 74.17(n)    BX852732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc777042 hypothetical protein MGC77704 77.79(n)   393860  BC063972.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95471 , 3 glutaryl-CoA dehydrogenase3
    CG95471
    68(a)3
    65.33(n)1
    69.25(a)1
      26D93
    339111  NM_135196.21  NP_609040.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F54D5.73
    CELE_F54D5.71
    acyl-CoA dehydrogenase3
    CELE_F54D5.71
    64(a)3
    61.39(n)1
    64.42(a)1
      II(11547428-11549088)3
    1747681  NM_064068.51  NP_496469.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACX41 ACX4 46.51(n)
    37.14(a)
      824347  NM_115043.2  NP_190752.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01594001 Os01g0159400 46.33(n)
    39.26(a)
      4324062  NM_001048619.1  NP_001042084.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GCDH gene
    ACADL2  ACADSB2  ACAD82  ACAD112  ACADS2  ACAD92  ACADM2  ACAD102  
    IVD2  ACADVL2  
    Selected SIMAP similar genes for GCDH using alignment to 11 protein entries:     GCDH_HUMAN (see all proteins) (see all similar genes):
    WARS    APOPT1    SH2B3    SNRPF    TUBA1C    C12orf76
    CHID1    DCTN5    pp12301    LYRM4    MST132    ZNF547
    RBP7    ZNF763    FLJ00047    NF2    COQ5    CTSS

    GCDH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GCDH
    PGOHUM00000258685


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GCDH (see all 320)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0003674
    Glutaric aciduria 1 (GA1)4--see VAR_0003672 R L mis40--------
    VAR_0003944
    Glutaric aciduria 1 (GA1)4--see VAR_0003942 L W mis40--------
    VAR_0004204
    Glutaric aciduria 1 (GA1)4--see VAR_0004202 A V mis40--------
    VAR_0004134
    Glutaric aciduria 1 (GA1)4--see VAR_0004132 R Q mis40--------
    VAR_0004024
    Glutaric aciduria 1 (GA1)4--see VAR_0004022 E K mis40--------
    VAR_0003894
    Glutaric aciduria 1 (GA1)4--see VAR_0003892 Y H mis40--------
    VAR_0004144
    Glutaric aciduria 1 (GA1)4--see VAR_0004142 H R mis40--------
    VAR_0003954
    Glutaric aciduria 1 (GA1)4--see VAR_0003952 R W mis40--------
    VAR_0004154
    Glutaric aciduria 1 (GA1)4--see VAR_0004152 N K mis40--------
    VAR_0003714
    Glutaric aciduria 1 (GA1)4--see VAR_0003712 R G mis40--------

    HapMap Linkage Disequilibrium report for GCDH (13001840 - 13025021 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GCDH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911082CNV Loss21882294
    nsv833754CNV Loss17160897
    dgv3733n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GCDH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GCDH
    DNA2.0 Custom Variant and Variant Library Synthesis for GCDH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608801   
    OMIM disorders: 231670  
    UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947
  • Glutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by
    progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for GCDH (see all 23):    
    About MalaCards
    organic acidemia    glutaric acidemia type i    corneal granular dystrophy    the organic acidemias: an
    athetosis    l-2-hydroxyglutaric aciduria    d-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria
    neurologic diseases    breast cyst    cerebral palsy    corneal dystrophy
    tonsillitis    cerebritis    tuberculosis    alzheimer's disease
    colorectal cancer    malaria    multiple myeloma    myeloma

    5 diseases from the University of Copenhagen DISEASES database for GCDH:
    Corneal dystrophy     Organic acidemia     Cerebral palsy     Movement disease
    L-2-hydroxyglutaric aciduria

    GCDH for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GCDH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    encephalopathy acute 74.7 1 11174631 (1)
    encephalopathy 34.8 1 1956737 (1)
    neurological disorders 32.4 3 17957492 (2), 15505395 (1)
    neurodegeneration 31.2 3 10960496 (1), 10649503 (1), 15318278 (1)
    cell damage 9.75 1 15505386 (1)
    neurodegenerative diseases 0.722 1 7490088 (1)

    Genetic Association Database (GAD): GCDH
    Human Genome Epidemiology (HuGE) Navigator: GCDH (4 documents)

    Export disorders for GCDH 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)
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    PubMed articles for GCDH gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with GCDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pork and human cDNAs encoding glutaryl-CoA dehydrogenase. (PubMed id 1438360)1, 2, 3 Goodman S.I.... Frerman F.E. (Prog. Clin. Biol. Res. 1992)
    2. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). (PubMed id 18775954)1, 2, 9 Keyser B.... Braulke T. (Hum. Mol. Genet. 2008)
    3. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. (PubMed id 8900227)1, 2, 9 Biery B.J.... Goodman S.I. (Am. J. Hum. Genet. 1996)
    4. Kinetic mechanism of glutaryl-CoA dehydrogenase. (PubMed id 17176108)1, 2, 9 Rao K.S....Frerman F.E. (Biochemistry 2006)
    5. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. (PubMed id 15274622)1, 2, 9 Fu Z.... Kim J.-J.P. (Biochemistry 2004)
    6. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. (PubMed id 9600243)1, 2, 9 Schwartz M.... Brandt N.J. (Hum. Genet. 1998)
    7. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. (PubMed id 9711871)1, 2, 9 Goodman S.I.... Elpeleg O.N. (Hum. Mutat. 1998)
    8. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. (PubMed id 8088809)1, 3, 9 Greenberg C.R....Goodman S.I. (Genomics 1994)
    9. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2639 HGNC: 4189 AceView: GCDH Ensembl:ENSG00000105607 euGenes: HUgn2639
    ECgene: GCDH Kegg: 2639 H-InvDB: GCDH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GCDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GCDH[genesymbol]

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

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



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