Human Gene GCDH (ENST00000222214.10) from GENCODE V44
Description: Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant 4, non-coding RNA. (from RefSeq NR_102317) RefSeq Summary (NM_000159): 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]. Gencode Transcript: ENST00000222214.10 Gencode Gene: ENSG00000105607.13 Transcript (Including UTRs) Position: hg38 chr19:12,891,160-12,899,999 Size: 8,840 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr19:12,891,305-12,899,541 Size: 8,237 Coding Exon Count: 11
ID:GCDH_HUMAN DESCRIPTION: RecName: Full=Glutaryl-CoA dehydrogenase, mitochondrial; Short=GCD; EC=1.3.8.6; Flags: Precursor; 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 = (E)-but-2-enoyl-CoA + CO(2) + reduced electron-transfer flavoprotein. COFACTOR: FAD. PATHWAY: Amino-acid metabolism; lysine degradation. PATHWAY: Amino-acid metabolism; tryptophan metabolism. SUBUNIT: Homotetramer. INTERACTION: P62993:GRB2; NbExp=1; IntAct=EBI-1236978, EBI-401755; P29474:NOS3; NbExp=1; IntAct=EBI-1236978, EBI-1391623; P49768:PSEN1; NbExp=1; IntAct=EBI-1236978, EBI-297277; SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in fibroblasts and liver. DISEASE: Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCDH";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92947
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.