Homo sapiens Gene: EHHADH
Summary
InnateDB Gene IDBG-68450.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EHHADH
Gene Name enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Synonyms ECHD; FRTS3; L-PBE; LBFP; LBP; PBFE
Species Homo sapiens
Ensembl Gene ENSG00000113790
Encoded Proteins
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:185190624-185281990
Strand Reverse strand
Band q27.2
Transcripts
ENST00000231887 ENSP00000231887
ENST00000456310 ENSP00000387746
ENST00000440662 ENSP00000396798
ENST00000483104
ENST00000475987
ENST00000465178
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [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:0003824 catalytic activity
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity
GO:0004165 dodecenoyl-CoA delta-isomerase activity
GO:0004300 enoyl-CoA hydratase activity
GO:0005102 receptor binding
GO:0016491 oxidoreductase activity
GO:0019899 enzyme binding
GO:0050662 coenzyme binding
Biological Process
GO:0006475 internal protein amino acid acetylation
GO:0006631 fatty acid metabolic process
GO:0006635 fatty acid beta-oxidation
GO:0008152 metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Valine, leucine and isoleucine degradation pathway
Butanoate metabolism pathway
Propanoate metabolism pathway
Tryptophan metabolism pathway
Fatty acid degradation pathway
Lysine degradation pathway
PPAR signaling pathway pathway
beta-Alanine metabolism pathway
Peroxisome pathway
INOH
Tryptophan degradation pathway
Propanoate metabolism pathway
Butanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
Lysine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.429879
RefSeq NM_001166415 NM_001966
HUGO
OMIM
CCDS CCDS33901 CCDS54694
HPRD 06125
IMGT
EMBL
GenPept
RNA Seq Atlas