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EHHADH

GENERAL INFORMATION

Gene name

 EHHADH

Gene description

 Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (kidney, liver)
GTEx:Group enriched (kidney, liver)
FANTOM5:Tissue enhanced (kidney, liver)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic granular expression in hepatocytes and renal proximal tubules.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 2 antibodies.
HPA036401 , HPA042021
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, liver)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney, liver)

GENE INFORMATION

Gene name

 EHHADH (HGNC Symbol)

Synonyms

 ECHD

Description

 Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (HGNC Symbol)

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]

Chromosome

 3

Cytoband

 q27.2

Chromosome location (bp)

 185190624 - 185281990

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000113790 (version 83.38)

Entrez gene

 1962

UniProt

 Q08426 (UniProt - Evidence at protein level)

neXtProt

 NX_Q08426

Antibodypedia

 EHHADH antibodies

PROTEIN BROWSER
EHHADH-001
EHHADH-002
EHHADH-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EHHADH-001
ENSP00000231887
ENST00000231887
Q08426 [Direct mapping]
Peroxisomal bifunctional enzyme Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase 3-hydroxyacyl-CoA dehydrogenase
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Enzymes
   ENZYME proteins
   Oxidoreductases
   Lyases
   Isomerase
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005777 [peroxisome]
GO:0005829 [cytosol]
GO:0006475 [internal protein amino acid acetylation]
GO:0006631 [fatty acid metabolic process]
GO:0006635 [fatty acid beta-oxidation]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0019899 [enzyme binding]
GO:0055114 [oxidation-reduction process]
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 723 aa
79.5 kDa 		No 0
EHHADH-002
ENSP00000387746
ENST00000456310
Q08426 [Direct mapping]
Peroxisomal bifunctional enzyme Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase 3-hydroxyacyl-CoA dehydrogenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Lyases
   Isomerase
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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:0005515 [protein binding]
GO:0005777 [peroxisome]
GO:0006475 [internal protein amino acid acetylation]
GO:0006631 [fatty acid metabolic process]
GO:0006635 [fatty acid beta-oxidation]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0019899 [enzyme binding]
GO:0055114 [oxidation-reduction process]
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 627 aa
69.2 kDa 		No 0
EHHADH-005
ENSP00000396798
ENST00000440662
C9JJE0 [Direct mapping]
Peroxisomal bifunctional enzyme
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
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 76 aa
8.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.