• Gene id: 2639

Gene Summary

• Gene Symbol: GCDH   Gene   UCSC   Ensembl
• Aliases: ACAD5, GCD
• Gene name: glutaryl-CoA dehydrogenase
• Alternate names: glutaryl-CoA dehydrogenase, mitochondrial, glutaryl-Coenzyme A dehydrogenase, truncated GCDH, truncated glutaryl-CoA dehydrogenase,
• Gene location: 19p13.13 (12891128: 12915344)     Exons: 16     NC_000019.10
• Gene summary(Entrez): 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 us
• OMIM: 608801

Protein Summary

• Protein general information: Q92947  
  • Name: Glutaryl CoA dehydrogenase, mitochondrial (GCD) (EC 1.3.8.6)
  • Length: 438  
  • Mass: 48127
  • Tissue specificity: Isoform Long and isoform Short are expressed in fibroblasts and liver.
• Sequence:

  MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDTFRTYC
  QERLMPRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMH
  PIYAYGSEEQRQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVW
  ARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWG
  VLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNC
  GKALDIARQARDMLGGNGISDEYHVIRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  
  • Prosite: PS00072 PS00073
  • PDB: 1SIQ 1SIR 2R0M 2R0N
  • PDBsum: 1SIQ 1SIR 2R0M 2R0N
  • STRING: ENSP00000222214
• Other Databases: GeneCards:  GCDH  Malacards:  GCDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046949	fatty-acyl-CoA biosynthetic process	IBA	biological process
GO:0000062	fatty-acyl-CoA binding	IBA	molecular function
GO:0004361	glutaryl-CoA dehydrogenase activity	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA	biological process
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004361	glutaryl-CoA dehydrogenase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0004361	glutaryl-CoA dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006554	lysine catabolic process	TAS	biological process
GO:0046949	fatty-acyl-CoA biosynthetic process	IEA	biological process
GO:0019395	fatty acid oxidation	IEA	biological process
GO:0006637	acyl-CoA metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0004361	glutaryl-CoA dehydrogenase activity	IEA	molecular function
GO:0000062	fatty-acyl-CoA binding	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006568	tryptophan metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation
hsa00071	Fatty acid degradation
hsa00380	Tryptophan metabolism

Diseases

Associated diseases	References
Glutaric acidemia	KEGG:H00178
Glutaric acidemia	KEGG:H00178
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881