Mmel1 MGI Mouse Gene Detail - MGI:1351603 - membrane metallo-endopeptidase-like 1

Symbol

Mmel1
Name

membrane metallo-endopeptidase-like 1
Synonyms

Mell1, Nep2, NEPLP alpha, NEPLP beta, NEPLP gamma, Nl1, SEP

Feature Type

protein coding gene
IDs

MGI:1351603
NCBI Gene: 27390
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr4:154954042-154979985 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 85.54 cM, cytoband E2
Mapping Data

1 experiment

SNPs within 2kb

852 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351603	protein coding gene	Chr4:154954042-154979987 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029200	protein coding gene	Chr4:159150790-159177301 (+)
A/J	MGP_AJ_G0029165	protein coding gene	Chr4:152473149-152498579 (+)
AKR/J	MGP_AKRJ_G0029113	protein coding gene	Chr4:156628893-156655031 (+)
BALB/cJ	MGP_BALBcJ_G0029181	protein coding gene	Chr4:152939736-152966879 (+)
C3H/HeJ	MGP_C3HHeJ_G0028902	protein coding gene	Chr4:157167487-157192236 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029630	protein coding gene	Chr4:164834416-164868545 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026876	protein coding gene	Chr4:144774049-144800653 (+)
CAST/EiJ	MGP_CASTEiJ_G0028315	protein coding gene	Chr4:154590156-154619832 (+)
CBA/J	MGP_CBAJ_G0028864	protein coding gene	Chr4:169775520-169806612 (+)
DBA/2J	MGP_DBA2J_G0029013	protein coding gene	Chr4:152498353-152524236 (+)
FVB/NJ	MGP_FVBNJ_G0028977	protein coding gene	Chr4:151714765-151741715 (+)
LP/J	MGP_LPJ_G0029103	protein coding gene	Chr4:159071181-159100589 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029004	protein coding gene	Chr4:172661206-172689355 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029662	protein coding gene	Chr4:157217009-157246089 (+)
PWK/PhJ	MGP_PWKPhJ_G0028035	protein coding gene	Chr4:148616789-148645591 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027869	protein coding gene	Chr4:151504061-151528618 (+)
WSB/EiJ	MGP_WSBEiJ_G0028395	protein coding gene	Chr4:157385576-157411877 (+)

Human Ortholog

MMEL1, membrane metalloendopeptidase like 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MMEL1, membrane metalloendopeptidase like 1
Synonyms

MMEL2, NEP2, NEPII, NL1, NL2, SEP
Links

HGNC:14668

NCBI Gene ID: 79258

neXtProt AC: NX_Q495T6

UniProt: Q495T6
Chr Location

1p36.32

MGI Vertebrate Homology

Mmel1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MMEL1
Gene Tree

Mmel1

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Endonuclease-mediated

3
Gene trapped

2
Targeted

4
Genomic Mutations

3 involving Mmel1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display impaired male fertility. Female fertility is not affected.

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All GO Annotations

17
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

4
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mmel1

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All Sequences

48
RefSeq

2
UniProt

6
CCDS

CCDS51401.1

Ensembl

ENSMUSG00000058183 (Evidence)
NCBI Gene

27390

			Length	Strain/Species	Flank
genomic	ENSMUSG00000058183	Ensembl Gene Model \| MGI Sequence Detail	25944	C57BL/6J	± kb
transcript	ENSMUST00000079269	Ensembl \| MGI Sequence Detail	2934	Not Applicable
polypeptide	ENSMUSP00000078252	Ensembl \| MGI Sequence Detail	768	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000010467 membrane metallo-endopeptidase-like 1

(term hierarchy)
EC

3.4.24.11
InterPro Domains

IPR024079 Metallopeptidase, catalytic domain superfamily

IPR000718 Peptidase M13

IPR018497 Peptidase M13, C-terminal domain

IPR042089 Peptidase M13, domain 2

IPR008753 Peptidase M13, N-terminal domain
GlyGen

Q9JLI3 5 sites

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All nucleic 4

cDNA 4

Microarray probesets 3

Summaries

All 36

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 9
Earliest

J:58258 Ikeda K, et al., Molecular identification and characterization of novel membrane-bound metalloprotease, the soluble secreted form of which hydrolyzes a variety of vasoactive peptides. J Biol Chem. 1999 Nov 5;274(45):32469-77
Latest

J:284960 Karoor V, et al., Sustained Activation of Rho GTPases Promotes a Synthetic Pulmonary Artery Smooth Muscle Cell Phenotype in Neprilysin Null Mice. Arterioscler Thromb Vasc Biol. 2018 Jan;38(1):154-163

TSS for Mmel1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40599	Chr4:154954021-154954023 (+)	-20 bp
Tssr40600	Chr4:154954045-154954091 (+)	26 bp
Tssr40601	Chr4:154954099-154954115 (+)	65 bp
Tssr40602	Chr4:154962537-154962577 (+)	8,515 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24