InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HADHB

Summary

InnateDB Protein

IDBP-35298.6

Last Modified

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

Gene Symbol

HADHB

Protein Name

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

Synonyms

ECHB; MTPB; TP-BETA;

Species

Homo sapiens

Ensembl Protein

ENSP00000325136

InnateDB Gene

IDBG-35294 (HADHB)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:21527675}. Mitochondrion inner membrane {ECO:0000269PubMed:21527675}. Mitochondrion outer membrane {ECO:0000269PubMed:21527675}. Endoplasmic reticulum {ECO:0000269PubMed:21527675}.

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:12754706, ECO:0000269PubMed:8651282, ECO:0000269PubMed:9259266}. 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 1 interaction(s) predicted by orthology.

Experimentally validated
Total	59 [view]
Protein-Protein	56 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [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:0003988	acetyl-CoA C-acyltransferase activity
GO:0004300	enoyl-CoA hydratase activity
GO:0005515	protein binding
GO:0016508	long-chain-enoyl-CoA hydratase activity
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups
GO:0032403	protein complex binding
GO:0044822	poly(A) RNA binding
GO:0051287	NAD binding

Biological Process

GO:0006635	fatty acid beta-oxidation
GO:0006644	phospholipid metabolic process
GO:0008152	metabolic process
GO:0035965	cardiolipin acyl-chain remodeling
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process

Cellular Component

GO:0005739	mitochondrion
GO:0005740	mitochondrial envelope
GO:0005741	mitochondrial outer membrane
GO:0005743	mitochondrial inner membrane
GO:0005783	endoplasmic reticulum
GO:0016507	mitochondrial fatty acid beta-oxidation multienzyme complex
GO:0042645	mitochondrial nucleoid
GO:0070062	extracellular vesicular exosome