InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HADH

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.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0050660	flavin adenine dinucleotide binding
GO:0051287	NAD binding
GO:0070403	NAD+ binding

Biological Process

GO:0006631	fatty acid metabolic process
GO:0006635	fatty acid beta-oxidation
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

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

PFAM

PF00070
PF03721
PF00725
PF02737
PF01262

PRINTS

PIRSF

SMART

SM01002

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q16836