Seroatlas · Human Serome Atlas

ECH1

Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial

Also known as: ECH1_HUMAN, HPXEL

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13011
Gene
ECH1
Ensembl
ENSG00000104823
Chromosome
19
Canonical length
328 aa
Protein class
Metabolic proteins, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homohexamer

OverviewNCBI Gene

This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

328 residues, UniProt reviewed canonical sequence.

>Q13011|ECH1
     1  MAAGIVASRR LRDLLTRRLT GSNYPGLSIS LRLTGSSAQE EASGVALGEA PDHSYESLRV
    61  TSAQKHVLHV QLNRPNKRNA MNKVFWREMV ECFNKISRDA DCRAVVISGA GKMFTAGIDL
   121  MDMASDILQP KGDDVARISW YLRDIITRYQ ETFNVIERCP KPVIAAVHGG CIGGGVDLVT
   181  ACDIRYCAQD AFFQVKEVDV GLAADVGTLQ RLPKVIGNQS LVNELAFTAR KMMADEALGS
   241  GLVSRVFPDK EVMLDAALAL AAEISSKSPV AVQSTKVNLL YSRDHSVAES LNYVASWNMS
   301  MLQTQDLVKS VQATTENKEL KTVTFSKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ECH1 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)
0.33
Highest tissue expression
904 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 904 nTPM
  • heart muscle: 769 nTPM
  • liver: 615 nTPM
  • tongue: 424 nTPM
  • adrenal gland: 350 nTPM
  • kidney: 281 nTPM

Single-cell type

  • cytotrophoblasts: 385 nCPM
  • migrating cytotrophoblasts: 333 nCPM
  • syncytiotrophoblasts: 278 nCPM
  • extravillous trophoblasts: 202 nCPM
  • enterocytes: 189 nCPM
  • enteric stem cells: 176 nCPM

Immune cell

  • total PBMC: 542 nTPM
  • T-reg: 393 nTPM
  • memory B-cell: 370 nTPM
  • naive B-cell: 363 nTPM
  • NK-cell: 344 nTPM
  • basophil: 317 nTPM

Brain region

  • choroid plexus: 51 nTPM
  • thalamus: 45 nTPM
  • cerebellum: 42 nTPM
  • basal ganglia: 41 nTPM
  • pons: 40 nTPM
  • white matter: 39 nTPM

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)
1.13
gnomAD pLI
0
gnomAD missense Z
0.04
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • delta(3
  • 5)-delta(2
  • 4)-dienoyl-CoA isomerase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ECH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ECH1 as an antibody target. Whether an autoantibody or antibody against ECH1 could matter depends on whether native ECH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ECH1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ECH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ECH1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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