Gene/Proteome Database (LMPD)

LMPD ID
LMP002229
Gene ID
1962
Species
Homo sapiens (Human)
Gene Name
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Gene Symbol
EHHADH
Synonyms
ECHD; FRTS3; L-PBE; LBFP; LBP; PBFE
Alternate Names
peroxisomal bifunctional enzyme; PBE; 3,2-trans-enoyl-CoA isomerase; peroxisomal enoyl-CoA hydratase; L-3-hydroxyacyl-CoA dehydrogenase; L-bifunctional protein, peroxisomal; enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
Chromosome
3
Map Location
3q26.3-q28
EC Number
4.2.1.17
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]
Orthologs
View orthologs and multiple alignments for EHHADH

Proteins

peroxisomal bifunctional enzyme isoform 1
Refseq ID NP_001957
Protein GI 68989263
UniProt ID Q08426
mRNA ID NM_001966
Length 723
RefSeq Status REVIEWED
MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHTIKAIVICGAEGKFSAGADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFGGGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSVGVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFLSRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPSSKL
peroxisomal bifunctional enzyme isoform 2
Refseq ID NP_001159887
Protein GI 261878539
UniProt ID Q08426
mRNA ID NM_001166415
Length 627
RefSeq Status REVIEWED
MAFGGGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSVGVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFLSRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPSSKL

Gene Information

Entrez Gene ID
1962
Gene Name
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Gene Symbol
EHHADH
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:HPA C cytoplasm
GO:0005829 IEA:Ensembl C cytosol
GO:0043231 IDA:HPA C intracellular membrane-bounded organelle
GO:0005739 IEA:Ensembl C mitochondrion
GO:0005634 IDA:HPA C nucleus
GO:0005777 IDA:UniProtKB C peroxisome
GO:0003857 NAS:UniProtKB F 3-hydroxyacyl-CoA dehydrogenase activity
GO:0050662 IEA:InterPro F coenzyme binding
GO:0004165 IEA:UniProtKB-EC F dodecenoyl-CoA delta-isomerase activity
GO:0004300 NAS:UniProtKB F enoyl-CoA hydratase activity
GO:0019899 IPI:UniProtKB F enzyme binding
GO:0005102 IPI:UniProtKB F receptor binding
GO:0006635 NAS:UniProtKB P fatty acid beta-oxidation
GO:0006475 IDA:UniProtKB P internal protein amino acid acetylation

KEGG Pathway Links

KEGG Pathway ID Description
hsa01200 Carbon metabolism
hsa03320 PPAR signaling pathway
hsa04146 Peroxisome

Domain Information

InterPro Annotations

Accession Description
IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal
IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding
IPR006180 3-hydroxyacyl-CoA dehydrogenase, conserved site
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR029045 ClpP/crotonase-like domain
IPR001753 Crotonase_core_superfam
IPR013328 Dehydrogenase, multihelical
IPR018376 Enoyl-CoA hydratase/isomerase, conserved site
IPR016040 NAD(P)-binding domain

UniProt Annotations

Entry Information

Gene Name
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Protein Entry
ECHP_HUMAN
UniProt ID
Q08426
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08426-1; Sequence=Displayed; Name=2; IsoId=Q08426-2; Sequence=VSP_042811;
Catalytic Activity (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O.
Catalytic Activity (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl- CoA.
Catalytic Activity (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
Disease Fanconi renotubular syndrome 3 (FRTS3) [MIM
Enzyme Regulation Enzyme activity enhanced by acetylation.
Miscellaneous Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.
Pathway Lipid metabolism; fatty acid beta-oxidation.
Ptm Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids. {ECO
Similarity In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family.
Similarity In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
Subcellular Location Peroxisome.
Subunit Monomer.
Tissue Specificity Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP002229 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
68989263 RefSeq NP_001957 723 peroxisomal bifunctional enzyme isoform 1
261878539 RefSeq NP_001159887 627 peroxisomal bifunctional enzyme isoform 2

Identical Sequences to LMP002229 proteins

Reference Database Accession Length Protein Name
GI:261878539 DBBJ BAG63025.1 627 unnamed protein product [Homo sapiens]
GI:68989263 EMBL CAD22483.1 723 L-3-hydroxyacyl-CoA dehydrogenase [Homo sapiens]
GI:68989263 GenBank AAI10461.1 723 Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase [Homo sapiens]
GI:68989263 GenBank EAW78229.1 723 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase, isoform CRA_b [Homo sapiens]
GI:68989263 GenBank EAW78230.1 723 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase, isoform CRA_b [Homo sapiens]
GI:68989263 GenBank AIC48685.1 723 EHHADH, partial [synthetic construct]
GI:68989263 SwissProt Q08426.3 723 RecName: Full=Peroxisomal bifunctional enzyme; Short=PBE; Short=PBFE; Includes: RecName: Full=Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase; Includes: RecName: Full=3-hydroxyacyl-CoA dehydrogenase [Homo sapiens]

Related Sequences to LMP002229 proteins

Reference Database Accession Length Protein Name
GI:261878539 DBBJ BAD97180.1 723 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase variant, partial [Homo sapiens]
GI:68989263 DBBJ BAF84487.1 723 unnamed protein product [Homo sapiens]
GI:261878539 EMBL CAD22483.1 723 L-3-hydroxyacyl-CoA dehydrogenase [Homo sapiens]
GI:261878539 GenBank AAH38948.1 723 Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase [Homo sapiens]
GI:261878539 GenBank AAI10461.1 723 Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase [Homo sapiens]
GI:68989263 GenBank JAA10687.1 723 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase [Pan troglodytes]
GI:68989263 GenBank JAA11474.1 723 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase [Pan troglodytes]
GI:68989263 GenBank JAA23334.1 723 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase [Pan troglodytes]
GI:68989263 GenBank JAA35089.1 723 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase [Pan troglodytes]
GI:68989263 GenBank JAA35090.1 723 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase [Pan troglodytes]
GI:261878539 GenBank AIC48685.1 723 EHHADH, partial [synthetic construct]
GI:261878539 SwissProt Q08426.3 723 RecName: Full=Peroxisomal bifunctional enzyme; Short=PBE; Short=PBFE; Includes: RecName: Full=Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase; Includes: RecName: Full=3-hydroxyacyl-CoA dehydrogenase [Homo sapiens]