ECHDC1
Ethylmalonyl-CoA decarboxylase
Also known as: dJ351K20.2, ECHD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NTX5
- Gene
- ECHDC1
- Ensembl
- ENSG00000093144
- Chromosome
- 6
- Canonical length
- 307 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
Predicted to enable carboxy-lyase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
307 residues, UniProt reviewed canonical sequence.
>Q9NTX5|ECHDC1
1 MALKQEMAKS LLKTASLSGR TKLLHQTGLS LYSTSHGFYE EEVKKTLQQF PGGSIDLQKE
61 DNGIGILTLN NPSRMNAFSG VMMLQLLEKV IELENWTEGK GLIVRGAKNT FSSGSDLNAV
121 KSLGTPEDGM AVCMFMQNTL TRFMRLPLIS VALVQGWALG GGAEFTTACD FRLMTPESKI
181 RFVHKEMGII PSWGGTTRLV EIIGSRQALK VLSGALKLDS KNALNIGMVE EVLQSSDETK
241 SLEEAQEWLK QFIQGPPEVI RALKKSVCSG RELYLEEALQ NERDLLGTVW GGPANLEAIA
301 KKGKFNKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ECHDC1 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)
- 0.28
- Highest tissue expression
- 88 nTPM
Expression across tissuesHPA
Tissue
- liver: 88 nTPM
- adipose tissue: 87 nTPM
- kidney: 86 nTPM
- colon: 55 nTPM
- lung: 54 nTPM
- rectum: 51 nTPM
Single-cell type
- adipocytes: 310 nCPM
- alveolar cells type 2: 226 nCPM
- parietal cells: 225 nCPM
- transitional alveolar cells: 201 nCPM
- lacrimal acinar cells: 186 nCPM
- retinal pigment epithelial cells: 171 nCPM
Immune cell
- classical monocyte: 72 nTPM
- myeloid DC: 67 nTPM
- intermediate monocyte: 58 nTPM
- plasmacytoid DC: 51 nTPM
- total PBMC: 44 nTPM
- non-classical monocyte: 43 nTPM
Brain region
- choroid plexus: 58 nTPM
- white matter: 55 nTPM
- medulla oblongata: 49 nTPM
- hypothalamus: 46 nTPM
- cerebellum: 45 nTPM
- pons: 43 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ECHDC1.
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 34 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 1.52
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.65
- DepMap mean gene effect
- 0.17
- DepMap dependency class
- none
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
Molecular functions
- carboxy-lyase activity
- methyl/ethyl malonyl-CoA decarboxylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ECHDC1 as an antibody target. Whether an autoantibody or antibody against ECHDC1 could matter depends on whether native ECHDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ECHDC1 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 ECHDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...