EHHADH

Protein identityUniProt · HPA

UniProt accession

Q08426

Gene

EHHADH

Ensembl

ENSG00000113790

Chromosome

3

Canonical length

723 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

723 residues, UniProt reviewed canonical sequence.

>Q08426|EHHADH
     1  MAEYTRLHNA LALIRLRNPP VNAISTTLLR DIKEGLQKAV IDHTIKAIVI CGAEGKFSAG
    61  ADIRGFSAPR TFGLTLGHVV DEIQRNEKPV VAAIQGMAFG GGLELALGCH YRIAHAEAQV
   121  GLPEVTLGLL PGARGTQLLP RLTGVPAALD LITSGRRILA DEALKLGILD KVVNSDPVEE
   181  AIRFAQRVSD QPLESRRLCN KPIQSLPNMD SIFSEALLKM RRQHPGCLAQ EACVRAVQAA
   241  VQYPYEVGIK KEEELFLYLL QSGQARALQY AFFAERKANK WSTPSGASWK TASARPVSSV
   301  GVVGLGTMGR GIVISFARAR IPVIAVDSDK NQLATANKMI TSVLEKEASK MQQSGHPWSG
   361  PKPRLTSSVK ELGGVDLVIE AVFEEMSLKK QVFAELSAVC KPEAFLCTNT SALDVDEIAS
   421  STDRPHLVIG THFFSPAHVM KLLEVIPSQY SSPTTIATVM NLSKKIKKIG VVVGNCFGFV
   481  GNRMLNPYYN QAYFLLEEGS KPEEVDQVLE EFGFKMGPFR VSDLAGLDVG WKSRKGQGLT
   541  GPTLLPGTPA RKRGNRRYCP IPDVLCELGR FGQKTGKGWY QYDKPLGRIH KPDPWLSKFL
   601  SRYRKTHHIE PRTISQDEIL ERCLYSLINE AFRILGEGIA ASPEHIDVVY LHGYGWPRHK
   661  GGPMFYASTV GLPTVLEKLQ KYYRQNPDIP QLEPSDYLKK LASQGNPPLK EWQSLAGSPS
   721  SKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EHHADH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

322 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EHHADH.

Disease | AllUniProt

Conditions EHHADH is implicated in, by any mechanism.

• Fanconi renotubular syndrome 3 (FRTS3) MIM:615605

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.97

gnomAD pLI

0

gnomAD missense Z

-0.03

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• alpha-linolenic acid metabolic process
• fatty acid beta-oxidation
• fatty acid beta-oxidation using acyl-CoA oxidase
• fatty acid derivative biosynthetic process
• long-chain fatty acid biosynthetic process
• unsaturated fatty acid biosynthetic process

Molecular functions

• (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity
• 3-hydroxyacyl-CoA dehydratase activity
• delta(3)-delta(2)-enoyl-CoA isomerase activity
• enoyl-CoA hydratase activity
• enzyme binding
• intramolecular oxidoreductase activity, transposing C=C bonds
• long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity
• NAD+ binding

Cellular components

• cytosol
• peroxisomal matrix
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Enoyl-CoA hydratase/isomerase-like domain
• 3-hydroxyacyl-CoA dehydrogenase, C-terminal
• 3-hydroxyacyl-CoA dehydrogenase, NAD binding
• 3-hydroxyacyl-CoA dehydrogenase, conserved site
• 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
• Enoyl-CoA hydratase/isomerase, conserved site
• ClpP/crotonase-like domain superfamily
• NAD(P)-binding domain superfamily
• Enoyl-CoA hydratase/isomerase
• 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
• 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

KeywordsUniProt

• Acetylation
• Fatty acid metabolism
• Isomerase
• Lipid metabolism
• Lyase
• Multifunctional enzyme
• NAD
• Oxidoreductase
• Peroxisome
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of EHHADH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KCTD6
• TRIM41
• TRIM63
• ZRANB1