InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HADHA

Summary

InnateDB Protein

IDBP-35127.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HADHA

Protein Name

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

Synonyms

ECHA; GBP; HADH; LCEH; LCHAD; MTPA; TP-ALPHA;

Species

Homo sapiens

Ensembl Protein

ENSP00000370023

InnateDB Gene

IDBG-35125 (HADHA)

Protein Structure

UniProt Annotation

Function

Bifunctional subunit.

Subcellular Localization

Mitochondrion.

Disease Associations

Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. {ECO:0000269PubMed:9739053}. Note=The disease is caused by mutations affecting the gene represented in this entry.Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. {ECO:0000269PubMed:7811722, ECO:0000269PubMed:9266371}. Note=The disease is caused by mutations affecting the gene represented in this entry.Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). {ECO:0000269PubMed:7846063}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	59 [view]
Protein-Protein	57 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000062	fatty-acyl-CoA binding
GO:0003824	catalytic activity
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity
GO:0003985	acetyl-CoA C-acetyltransferase activity
GO:0003988	acetyl-CoA C-acyltransferase activity
GO:0004300	enoyl-CoA hydratase activity
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0016508	long-chain-enoyl-CoA hydratase activity
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity
GO:0032403	protein complex binding
GO:0051287	NAD binding

Biological Process

GO:0006631	fatty acid metabolic process
GO:0006635	fatty acid beta-oxidation
GO:0006644	phospholipid metabolic process
GO:0008152	metabolic process
GO:0032868	response to insulin
GO:0035965	cardiolipin acyl-chain remodeling
GO:0042493	response to drug
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0016507	mitochondrial fatty acid beta-oxidation multienzyme complex
GO:0042645	mitochondrial nucleoid

Protein Structure and Domains

PDB ID

InterPro

IPR001753 Crotonase superfamily
IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal
IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR012803 Fatty acid oxidation complex, alpha subunit, mitochondrial
IPR029045 ClpP/crotonase-like domain

PFAM

PF00378
PF00725
PF02737

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P40939

PhosphoSite