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

Summary

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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH143238 (e-PCR)
- UniSTS:232485

D17825 (e-PCR)
- UniSTS:159784

GDB:568776 (e-PCR)
- UniSTS:157752

AI266902 (e-PCR)
- UniSTS:179775

Gcdh (e-PCR), detects polymorphism
- UniSTS:143184

NoName (e-PCR)
- UniSTS:235945

RH124647 (e-PCR)
- UniSTS:161469

Gcdh (e-PCR), detects polymorphism
- UniSTS:546788

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 more info	PubMed
located_in mitochondrion	HDA more info	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

EC 1.3.8.6

NP_032123.3

EC 1.3.8.6

XP_036009971.1

EC 1.3.8.6

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)

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
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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

85613016..85629378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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