ECEL1 (Endothelin Converting Enzyme Like 1)
A metalloprotease involved in distal arthrogryposis and neuronal development
Gene Information Card
| Symbol | ECEL1 |
|---|---|
| Full Name | Endothelin Converting Enzyme Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 9429 ncbi.nlm.nih.gov/gene/9429 |
| Ensembl ID | ENSG00000171551 |
| UniProt ID | O95672 |
| OMIM ID | 605896 |
| HGNC ID | 3152 |
| Aliases | DA5D, DINE, ECE-2, XCE |
Description
ECEL1 encodes a type II integral membrane zinc metalloprotease belonging to the M13 peptidase family. The protein is primarily expressed in the nervous system and is involved in the processing of neuropeptides and regulation of neuromuscular junction development. Loss-of-function mutations in ECEL1 cause distal arthrogryposis type 5D (DA5D), a congenital disorder characterized by joint contractures and neurological abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal Arthrogryposis Type 5D (DA5D) | Loss-of-function mutations impair proteolytic activity required for motor neuron axon guidance and neuromuscular junction formation, leading to joint contractures and ptosis. | OMIM #615065; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Spinal Cord | 3.8 | Low |
| Testis | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.1 | Neuronal lineage |
| U-87 MG (glioblastoma) | 1.5 | Glial lineage |
| HEK 293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535C>T (p.Arg179*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1288G>A (p.Gly430Arg) | Missense | Rare | Impaired catalytic activity |
| c.1742delC (p.Pro581Leufs*12) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Majority of reported ECEL1 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced or absent enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • proteolysis (GO:0006508) |
| • plasma membrane (GO:0005886) | • nervous system development (GO:0007399) |
| • chemical synaptic transmission (GO:0007268) |
Pathways
• ['Neuropeptide processing (Reactome:R-HSA-422085)']
• ['Axon guidance (KEGG:hsa04360)']
Protein Summary
ECEL1 is a 775-amino-acid zinc metalloprotease anchored to the plasma membrane. It contains a short N-terminal cytoplasmic domain, a transmembrane helix, and a large extracellular catalytic domain. The enzyme cleaves small peptides such as big endothelin-1 and bradykinin, and is essential for normal development of the neuromuscular junction. Mutations that disrupt its catalytic activity or stability lead to distal arthrogryposis type 5D.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECEL1 Knockout HEK293 Cell Line | EDJ-KQ2505 | Human | 9427 | Details Get a Quote |
| ECEL1 Knockout HeLa Cell Line | EDJ-KQ23101 | Human | 9427 | Details Get a Quote |
| ECEL1 Knockout A-549 Cell Line | EDJ-KQ63643 | Human | 9427 | Details Get a Quote |
| ECEL1 Knockout HCT 116 Cell Line | EDJ-KQ72104 | Human | 9427 | Details Get a Quote |
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