ECEL1 Back

endothelin converting enzyme-like 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of ECEL1
This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes.

Community Annotation of ECEL1 Add / Edit ECEL1: Annotations

No community annotations yet for ECEL1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ECEL1 is highly significantly mutated in
(none)
ECEL1 is significantly mutated in
(none)
ECEL1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ECEL1