• Gene id: 3033

Gene Summary

• Gene Symbol: HADH   Gene   UCSC   Ensembl
• Aliases: HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD, SCHAD
• Gene name: hydroxyacyl-CoA dehydrogenase
• Alternate names: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial, L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, testis secretory sperm-binding protein Li,
• Gene location: 4q25 (107989838: 108035174)     Exons: 10     NC_000004.12
• Gene summary(Entrez): This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activit
• OMIM: 601609

Protein Summary

• Protein general information: Q16836  
  • Name: Hydroxyacyl coenzyme A dehydrogenase, mitochondrial (HCDH) (EC 1.1.1.35) (Medium and short chain L 3 hydroxyacyl coenzyme A dehydrogenase) (Short chain 3 hydroxyacyl CoA dehydrogenase)
  • Length: 314  
  • Mass: 34294
  • Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle.
• Sequence:

  MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLR
  KVAKKKFAENLKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSS
  LQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVP
  YLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAEN
  KFGKKTGEGFYKYK

• Structural information:
  • Interpro: IPR022694  IPR006180  IPR006176  IPR006108  IPR008927   IPR013328  IPR036291  
  • Prosite: PS00067
  • PDB: 1F0Y 1F12 1F14 1F17 1IL0 1LSJ 1LSO 1M75 1M76 2HDH 3HAD 3RQS
  • PDBsum: 1F0Y 1F12 1F14 1F17 1IL0 1LSJ 1LSO 1M75 1M76 2HDH 3HAD 3RQS
  • STRING: ENSP00000474560
• Other Databases: GeneCards:  HADH  Malacards:  HADH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0070403	NAD+ binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00310	Lysine degradation
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00380	Tryptophan metabolism
hsa00650	Butanoate metabolism
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
3-Hydroxyacyl-CoA dehydrogenase deficiency	KEGG:H01364
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
3-Hydroxyacyl-CoA dehydrogenase deficiency	KEGG:H01364
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)