Ecel1 endothelin converting enzyme-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ecel1provided by MGI
Official Full Name: endothelin converting enzyme-like 1provided by MGI
Primary source: MGI:MGI:1343461
See related: Ensembl:ENSMUSG00000026247 AllianceGenome:MGI:1343461
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: xce; DINE
Summary: Enables metalloendopeptidase activity. Involved in respiratory system process. Predicted to be active in plasma membrane. Is expressed in cap mesenchyme; central nervous system; and retina. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 5D. Orthologous to human ECEL1 (endothelin converting enzyme like 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 6.2), CNS E14 (RPKM 4.5) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C5; 1 44.06 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (87070596..87084867, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (87142874..87157085, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Brachial Plexus Root Avulsion Injury-Induced Endothelin-Converting Enzyme-Like 1 Overexpression Is Associated with Injured Motor Neurons Survival.
Title: Brachial Plexus Root Avulsion Injury-Induced Endothelin-Converting Enzyme-Like 1 Overexpression Is Associated with Injured Motor Neurons Survival.
This study demonstrated that the ECEL1/DINE G607S and C760R mutations both lead to motor innervation defects as primary causes in ECEL1-mutated congenital contracture disorders.
Title: Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
DINE is expressed in cranial and spinal motor neurons both embryonically and after CNS injury
Title: A Schwanncentric View of Axon Arborization in Neuromuscular Junction (NMJ) Formation.
DINE enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.
Title: Damage-induced neuronal endopeptidase (DINE) enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.
Using two different DINE mutant mice, study found that DINE functional disruption leads to impaired axonal arborization of motor nerves in limb muscles.
Title: ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.
The data of this study suggested that DINE is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions.
Title: Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions.
Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene
Title: Neuronal injury-inducible gene is synergistically regulated by ATF3, c-Jun, and STAT3 through the interaction with Sp1 in damaged neurons.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in neuropeptide signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: endothelin-converting enzyme-like 1

Names: damage-induced neuronal endopeptidase

NP_001264854.1

EC 3.4.24.11

NP_001407080.1

EC 3.4.24.11

NP_001407081.1

EC 3.4.24.11

NP_067281.2

EC 3.4.24.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001277925.2 → NP_001264854.1 endothelin-converting enzyme-like 1

See identical proteins and their annotated locations for NP_001264854.1

Status: VALIDATED

Source sequence(s)

AC102611

Consensus CDS

CCDS15128.1

UniProtKB/Swiss-Prot

Q6PFG4, Q9JMI0

UniProtKB/TrEMBL

Q3TX93

Related

ENSMUSP00000125557.2, ENSMUST00000160810.2

Conserved Domains (1) summary

cd08662
Location:121 → 773

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
NM_001420151.1 → NP_001407080.1 endothelin-converting enzyme-like 1

Status: VALIDATED

Source sequence(s)

AC102611

UniProtKB/Swiss-Prot

Q6PFG4, Q9JMI0
NM_001420152.1 → NP_001407081.1 endothelin-converting enzyme-like 1

Status: VALIDATED

Source sequence(s)

AC102611

UniProtKB/Swiss-Prot

Q6PFG4, Q9JMI0
NM_021306.4 → NP_067281.2 endothelin-converting enzyme-like 1

See identical proteins and their annotated locations for NP_067281.2

Status: VALIDATED

Source sequence(s)

AC102611

Consensus CDS

CCDS15128.1

UniProtKB/Swiss-Prot

Q6PFG4, Q9JMI0

UniProtKB/TrEMBL

Q3TX93

Related

ENSMUSP00000125096.2, ENSMUST00000161002.8

Conserved Domains (1) summary

cd08662
Location:121 → 773

M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I