Mmel1 membrane metallo-endopeptidase-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mmel1provided by MGI
Official Full Name: membrane metallo-endopeptidase-like 1provided by MGI
Primary source: MGI:MGI:1351603
See related: Ensembl:ENSMUSG00000058183 AllianceGenome:MGI:1351603
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: NL2; Nl1; SEP; NEP2; NL-1; Mell1; NEPII; NEP2(m)
Summary: Predicted to enable metalloendopeptidase activity and zinc ion binding activity. Predicted to be involved in protein processing. Located in Golgi apparatus and endoplasmic reticulum. Orthologous to human MMEL1 (membrane metalloendopeptidase like 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 51.8) and ovary adult (RPKM 4.3) See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 85.54 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (154954042..154979987)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (154869585..154895530)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Rho-kinase inhibitor hydroxyfasudil protects against HIV-1 Tat-induced dysfunction of tight junction and neprilysin/Abeta transfer receptor expression in mouse brain microvessels.
Title: Rho-kinase inhibitor hydroxyfasudil protects against HIV-1 Tat-induced dysfunction of tight junction and neprilysin/Aβ transfer receptor expression in mouse brain microvessels.
Sustained Rho activation in NEP(-/-) pulmonary artery smooth muscle cells is associated with a decrease in SM-protein levels and increased migration and proliferation.
Title: Sustained Activation of Rho GTPases Promotes a Synthetic Pulmonary Artery Smooth Muscle Cell Phenotype in Neprilysin Null Mice.
These studies help to characterize our complex transgenic model of NEP overexpression and further demonstrate NEP's protective effects against plasma extravasation.
Title: Protection against vascular leak in neprilysin transgenic mice with complex overexpression pattern.
This study demonstrated that Cortical fast-spiking parvalbumin interneurons enwrapped in the perineuronal net express the Neprilysin in mice.
Title: Cortical fast-spiking parvalbumin interneurons enwrapped in the perineuronal net express the metallopeptidases Adamts8, Adamts15 and Neprilysin.
neprilysin x ABCC1 double-deficient mice present a new model for early effects of amyloid-beta-related mild cognitive impairment that allows investigations without artificial overexpression of inherited Alzheimer's disease genes
Title: Accumulation of murine amyloid-β mimics early Alzheimer's disease.
Data show that intranasal delivery of drugs can be used to model Alzheimer disease and suggest that other phosphoramidon-sensitive peptidases are degrading amyloid beta in neprilysin/NEP2-deficient mice.
Title: Intranasal phosphoramidon increases beta-amyloid levels in wild-type and NEP/NEP2-deficient mice.
In NEP/NEP2 double-knockout mice, Abeta levels were marginally increased ( approximately 1.5- to 2-fold), compared with NEP(-/-)/NEP2(+/+) controls.
Title: Neprilysin-2 is an important β-amyloid degrading enzyme.
Intracellular transport and secretion of NEP2 is regulated by processes such as glycosylation, endoplasmic reticulum-Golgi transport, and intracellular calcium levels.
Title: Biosynthesis, processing, trafficking, and enzymatic activity of mouse neprilysin 2.
One of the roles of NL1 in mice is related to sperm function. NL1 modulates the processes of fertilization and early embryonic development in vivo.
Title: Reduced fertility in male mice deficient in the zinc metallopeptidase NL1.
Modification of the structure of the C-terminal region will either impair substrate hydrolysis or completely abolish the secretion and enzymatic activity of the secreted isoform of rat NEP2.
Title: The ultimate tryptophan residue of neprilysin 2 is not involved in protein maturation and enzymatic activity.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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 proteolysis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: membrane metallo-endopeptidase-like 1

Names: NEPLP alpha; NEPLP beta; NEPLP gamma; mel transforming oncogene-like 1; neprilysin 2; neprilysin II; neprilysin-like 1; neprilysin-like peptidase; soluble secreted endopeptidase

NP_038811.2

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_013783.2 → NP_038811.2 membrane metallo-endopeptidase-like 1

Status: VALIDATED

Source sequence(s)

AF157105, AF176569, AF302076, BY105444

Consensus CDS

CCDS51401.1

UniProtKB/Swiss-Prot

Q3U495, Q9ERK2, Q9ERK3, Q9JLI3, Q9QZV6, Q9QZV7

UniProtKB/TrEMBL

B1AS15, E9PVK7

Related

ENSMUSP00000131753.2, ENSMUST00000163732.8

Conserved Domains (2) summary

cd08662
Location:97 → 764

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

COG3590
Location:89 → 766

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]