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

Gene ID: 270076, updated on 21-Apr-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, Apr 2022]
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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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. 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. Seminotti B, et al. Mol Neurobiol, 2022 Aug. PMID 35639256
  2. Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1. Leandro J, et al. J Inherit Metab Dis, 2020 Nov. PMID 32567100
  3. l-Carnitine prevents oxidative stress in striatum of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload. Guerreiro G, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Sep 1. PMID 31181292
  4. Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity. Schmiesing J, et al. Cell Rep, 2018 Sep 11. PMID 30208319
  5. Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice. Olivera-Bravo S, et al. Mol Neurobiol, 2019 Jan. PMID 29779173

See all (63) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (3) 

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 acyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
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 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 ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the CH-CH group of donors IEA
Inferred from Electronic Annotation
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 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
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane HDA PubMed 
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

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