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 KTVTFSKLLocalizationUniProt · 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
- 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
- Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase Ech1-like
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.
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