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    Gcdh glutaryl-Coenzyme A dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 270076, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gcdhprovided by MGI
    Official Full Name
    glutaryl-Coenzyme A dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:104541
    See related
    Ensembl:ENSMUSG00000003809 AllianceGenome:MGI:104541
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GCD; 9030411L18
    Summary
    Predicted to enable fatty-acyl-CoA binding activity; flavin adenine dinucleotide binding activity; and glutaryl-CoA dehydrogenase activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase and fatty-acyl-CoA biosynthetic process. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study glutaric acidemia I. Human ortholog(s) of this gene implicated in glutaric acidemia I. Orthologous to human GCDH (glutaryl-CoA dehydrogenase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 212.2), kidney adult (RPKM 105.6) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gcdh in Genome Data Viewer
    Location:
    8 C3; 8 41.28 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (85613016..85629378, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (84886387..84893921, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700122E12 gene Neighboring gene predicted gene 5911 Neighboring gene phenylalanyl-tRNA synthetase, alpha subunit Neighboring gene STARR-positive B cell enhancer ABC_E11391 Neighboring gene microRNA 7069 Neighboring gene synaptonemal complex central element protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E1763 Neighboring gene predicted gene, 39213 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:87427053-87427162 Neighboring gene STARR-positive B cell enhancer ABC_E1373 Neighboring gene Kruppel-like transcription factor 1 (erythroid) Neighboring gene deoxyribonuclease II alpha Neighboring gene predicted gene, 38426 Neighboring gene microtubule associated serine/threonine kinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice. Amaral AU, et al. Neurotox Res, 2018 Apr. PMID 29235064
    2. Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I. Posset R, et al. J Inherit Metab Dis, 2015 Mar. PMID 25214427
    3. Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I. Sauer SW, et al. Biochim Biophys Acta, 2015 May. PMID 25558815
    4. Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I. Olivera-Bravo S, et al. Hum Mol Genet, 2015 Aug 15. PMID 25968119
    5. Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload. Amaral AU, et al. Brain Res, 2015 Sep 16. PMID 25998543

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disturbance of Mitochondrial Dynamics, Endoplasmic Reticulum-Mitochondria Crosstalk, Redox Homeostasis, and Inflammatory Response in the Brain of Glutaryl-CoA Dehydrogenase-Deficient Mice: Neuroprotective Effects of Bezafibrate.
      Title: Disturbance of Mitochondrial Dynamics, Endoplasmic Reticulum-Mitochondria Crosstalk, Redox Homeostasis, and Inflammatory Response in the Brain of Glutaryl-CoA Dehydrogenase-Deficient Mice: Neuroprotective Effects of Bezafibrate.
    2. Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
      Title: Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
    3. myelin damage seen in Gcdh-/- mice fed with 2.8% Lys seems to be mediated by a long-term increased levels of Glutaric acidemia type I metabolites having deleterious effects in myelinating oligodendrocytes over neurons.
      Title: Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.
    4. The present data indicate that QA significantly contributes to the histopathological changes observed in the striatum of Gcdh-/- mice.
      Title: Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.
    5. Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
      Title: Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
    6. Quinolinic acid increased lactate release in both Gcdh (+/+) and Gcdh (-/-) mice and reduced the activities of complex IV and creatine kinase only in the striatum of Gcdh (-/-) mice.
      Title: Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I.
    7. Using an experimental model with a phenotype similar to that of GA-I in humans-the Gcdh(-/-) mice under high lysine diet (Gcdh(-/-) -Lys)-we provide evidence that a reduction in cortical inhibition of Gcdh(-/-) -Lys mice, probably induced by GAD dysfunction, leads to hyperexcitability and increased slow oscillations associated with neurologic abnormalities in glutaric academia type I.
      Title: Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
    8. The data of this study indicate higher susceptibility of Gcdh(-/-) mice to excitotoxic damage.
      Title: Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.
    9. GCDH-defective astrocytes actively contribute to produce and accumulate GA and 3HGA when Lys catabolism is stressed
      Title: Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.
    10. L-pipecolate is a major degradation product from L-lysine in murine brain generated by alpha-deamination of this amino acid in Gcdh-deficient mouse model for glutaric aciduria type I.
      Title: Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables fatty-acyl-CoA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty-acyl-CoA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables flavin adenine dinucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glutaryl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutaryl-CoA dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutaryl-CoA dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid oxidation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fatty-acyl-CoA biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty-acyl-CoA biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tryptophan metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    glutaryl-CoA dehydrogenase, mitochondrial
    NP_001038209.2
    NP_032123.3
    XP_036009971.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001044744.1 → NP_001038209.2  glutaryl-CoA dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_001038209.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC161765, AI181022, AK078866, AU080952
      Consensus CDS
      CCDS22482.2
      UniProtKB/TrEMBL
      A0A0A0MQ68, A0A1S6GWJ2
      Related
      ENSMUSP00000105367.2, ENSMUST00000109745.8
      Conserved Domains (1) summary
      cd01151
      Location:57 → 443
      GCD; Glutaryl-CoA dehydrogenase

    2. NM_008097.2 → NP_032123.3  glutaryl-CoA dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_032123.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC161765, AI181022, AK078866, AK165406
      Consensus CDS
      CCDS22482.2
      UniProtKB/TrEMBL
      A0A0A0MQ68, A0A1S6GWJ2
      Related
      ENSMUSP00000003907.9, ENSMUST00000003907.14
      Conserved Domains (1) summary
      cd01151
      Location:57 → 443
      GCD; Glutaryl-CoA dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      85613016..85629378 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154078.1 → XP_036009971.1  glutaryl-CoA dehydrogenase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A0A0MQ68, A0A1S6GWJ2
      Conserved Domains (1) summary
      cd01151
      Location:57 → 443
      GCD; Glutaryl-CoA dehydrogenase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60759.2 GenPept UniProtKB/Swiss-Prot:Q60759

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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