ECHS1

Protein identityUniProt · HPA

UniProt accession

P30084

Gene

ECHS1

Ensembl

ENSG00000127884

Chromosome

10

Canonical length

290 aa

Protein class

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

Subcellular location

Mitochondria

Quaternary structure

Homohexamer

OverviewNCBI Gene

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>P30084|ECHS1
     1  MAALRVLLSC VRGPLRPPVR CPAWRPFASG ANFEYIIAEK RGKNNTVGLI QLNRPKALNA
    61  LCDGLIDELN QALKTFEEDP AVGAIVLTGG DKAFAAGADI KEMQNLSFQD CYSSKFLKHW
   121  DHLTQVKKPV IAAVNGYAFG GGCELAMMCD IIYAGEKAQF AQPEILIGTI PGAGGTQRLT
   181  RAVGKSLAME MVLTGDRISA QDAKQAGLVS KICPVETLVE EAIQCAEKIA SNSKIVVAMA
   241  KESVNAAFEM TLTEGSKLEK KLFYSTFATD DRKEGMTAFV EKRKANFKDQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ECHS1 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)

0.32

Highest tissue expression

1,286 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ECHS1.

Disease | AllUniProt

Conditions ECHS1 is implicated in, by any mechanism.

• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) MIM:616277

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 405 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
• ECHS1-related disorder
• Leigh syndrome
• Inborn genetic diseases
• See cases

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)

0.96

gnomAD pLI

0

gnomAD missense Z

0.86

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branched-chain amino acid catabolic process
• fatty acid beta-oxidation

Molecular functions

• (2E)-butenoyl-CoA hydratase activity
• delta(3)-delta(2)-enoyl-CoA isomerase activity
• enoyl-CoA hydratase activity
• 3-hydroxypropionyl-CoA dehydratase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Enoyl-CoA hydratase/isomerase-like domain
• Enoyl-CoA hydratase, C-terminal
• Enoyl-CoA hydratase/isomerase, conserved site
• ClpP/crotonase-like domain superfamily
• Enoyl-CoA hydratase/isomerase

KeywordsUniProt

• Acetylation
• Fatty acid metabolism
• Isomerase
• Lipid metabolism
• Lyase
• Mitochondrion
• Neurodegeneration
• Phosphoprotein
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ECHS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CUL7
• LONP1