Homo sapiens Protein: HADH | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-33473.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | HADH | ||||||||||||||||||
Protein Name | hydroxyacyl-CoA dehydrogenase | ||||||||||||||||||
Synonyms | HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD; SCHAD; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000312288 | ||||||||||||||||||
InnateDB Gene | IDBG-33469 (HADH) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Plays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. | ||||||||||||||||||
Subcellular Localization | Mitochondrion matrix. | ||||||||||||||||||
Disease Associations | 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269Ref.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in liver, kidney, pancreas, heart and skeletal muscle. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001327
Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain IPR001732 UDP-glucose/GDP-mannose dehydrogenase, N-terminal IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like |
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PFAM |
PF00070
PF03721 PF00725 PF02737 PF01262 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM01002
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q16836 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q16836 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3033 | ||||||||||||||||||
UniGene | Hs.713095 | ||||||||||||||||||
RefSeq | NP_005318 | ||||||||||||||||||
HUGO | HGNC:4799 | ||||||||||||||||||
OMIM | 601609 | ||||||||||||||||||
CCDS | CCDS3678 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC114733 AC118062 AF001902 AF001903 AF001904 AF095703 BC000306 X96752 | ||||||||||||||||||
GenPept | AAB54008 AAB54009 AAB58153 AAD13581 AAH00306 AAY41050 CAA65528 | ||||||||||||||||||