Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MMEL1 contributors: mct - updated : 05-09-2008
HGNC name membrane metallo-endopeptidase-like 1
HGNC id 14668
Location 1p36.32      Physical location : 2.522.080 - 2.564.481
Synonym name
  • neprilysin-like metallopeptidase 2
  • soluble secreted endopeptidase
  • membrane metallo-endopeptidase-like 2
  • zinc metallopeptidase
  • neprilysin II
    • Synonym symbol(s) NL1, NL2, SEP, MMEL2, NEPII, MGC119454, MGC119455, MGC119456, MELL1, NEP2
    EC.number 3.4.24.11
    DNA
    TYPE functioning gene
    STRUCTURE 42.35 kb     24 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 2902 - 779 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • furin cleavage site
  • zinc binding consensus sequence HEXXH
  • seven potential N-glycosylation sites
    • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to NEP
    intraspecies homolog to rat Nep2 (91 p100)
    Homologene
    FAMILY
  • membrane metallo-endopeptidase (MME) family
  • peptidase M13 family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text type II transmembrane protein
    basic FUNCTION
  • play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis
  • developmentally-regulated and playing a specific role in the reproductive system, possibly explaining its narrow substrate specificity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to NEP
    intraspecies homolog to rat Nep2 (91 p100)
    Homologene
    FAMILY membrane metallo-endopeptidase (MME) family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text type II transmembrane protein
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to rheumatoid arthritis
  • to primary biliary cirrhosis
    • Variant & Polymorphism SNP , other
  • variant increasing the risk of rheumatoid arthritis
  • two SNPs (rs3890745 and rs3748816) strongly associated to primary biliary cirrhosis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS