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
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