ECHDC3
Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
Also known as: ECHD3_HUMAN, FLJ20909
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96DC8
- Gene
- ECHDC3
- Ensembl
- ENSG00000134463
- Chromosome
- 10
- Canonical length
- 303 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
Predicted to enable enoyl-CoA hydratase activity. Involved in positive regulation of cellular response to insulin stimulus. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
303 residues, UniProt reviewed canonical sequence.
>Q96DC8|ECHDC3
1 MAAVAVLRAF GASGPMCLRR GPWAQLPARF CSRDPAGAGR RESEPRPTSA RQLDGIRNIV
61 LSNPKKRNAL SLAMLKSLQS DILHDADSND LKVIIISAEG PVFSSGHDLK ELTEEQGRDY
121 HAEVFQTCSK VMMHIRNHPV PVIAMVNGLA AAAGCQLVAS CDIAVASDKS SFATPGVNVG
181 LFCSTPGVAL ARAVPRKVAL EMLFTGEPIS AQEALLHGLL SKVVPEAELQ EETMRIARKI
241 ASLSRPVVSL GKATFYKQLP QDLGTAYYLT SQAMVDNLAL RDGQEGITAF LQKRKPVWSH
301 EPVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ECHDC3 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)
- 0.34
- Highest tissue expression
- 158 nTPM
Expression across tissuesHPA
Tissue
- liver: 158 nTPM
- skeletal muscle: 123 nTPM
- adipose tissue: 67 nTPM
- heart muscle: 64 nTPM
- kidney: 62 nTPM
- tongue: 56 nTPM
Single-cell type
- thymic myoid cells: 407 nCPM
- neutrophils: 218 nCPM
- hepatocytes: 173 nCPM
- esophageal apical cells: 120 nCPM
- cardiomyocytes: 108 nCPM
- cytotrophoblasts: 105 nCPM
Immune cell
- eosinophil: 16 nTPM
- neutrophil: 3.6 nTPM
- basophil: 3 nTPM
- classical monocyte: 1.8 nTPM
- myeloid DC: 1.7 nTPM
- naive B-cell: 1.7 nTPM
Brain region
- choroid plexus: 34 nTPM
- hypothalamus: 6.5 nTPM
- white matter: 4.5 nTPM
- medulla oblongata: 4.2 nTPM
- spinal cord: 3.8 nTPM
- midbrain: 3.5 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)
- 1.74
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.19
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Enoyl-CoA hydratase/isomerase-like domain
- Enoyl-CoA hydratase, C-terminal
- ClpP/crotonase-like domain superfamily
- Enoyl-CoA hydratase/isomerase
- Mitochondrial enoyl-CoA hydratase domain-containing protein
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ECHDC3 as an antibody target. Whether an autoantibody or antibody against ECHDC3 could matter depends on whether native ECHDC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ECHDC3 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 ECHDC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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