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FLASH GENE
Symbol MASP1 contributors: mct - updated : 02-12-2010
HGNC name mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)
HGNC id 6901
Corresponding disease
3MC 3MC (Malpuech-Michels-Mingarelli-Carnevale) syndrome
Location 3q27.3      Physical location : 186.933.873 - 187.009.810
Synonym name
  • Ra-reactive factor serine protease p100
  • protease, serine, 5 (mannose-binding protein-associated)
  • complement-activating component of Ra-reactive factor light chain
  • serine protease 5
  • Synonym symbol(s) CRAR, CRARF1, FLJ26383, MASP, MGC126283, MGC126284, PRSS5, RaRF, DKFZp686I01199
    EC.number 3.4.21.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 73.82 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4137 - 728 - 2011 21258343
  • isoform 2, precursor, MASP-3
  • has the same heavy chain as isoform 1 but a different serine protease domain encoded by the single exon 12
  • 18 - 4353 - 699 - 2011 21258343
  • isoform 1, precursor
  • having a light chain containing the serine protease domain encoded by exons 1318
  • 9 - 2072 45 380 . myocardial, skeletal muscle tissue, highly . liver hepatocytes 2008 17938215
  • isoform 3, lacking the serine protease domain
  • complexing with mannose-binding lectin and ficolins
  • is able to inhibit complement C4 deposition
  • composed of a single shortened heavy chain
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   highly
    Reproductivefemale systemuterus  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine or ten short consensus repeats, sushi structure
  • HOMOLOGY
    Homologene
    FAMILY
  • trypsin family of peptidases
  • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria
  • serine protease activating the classical complement pathway by binding to lectin
  • contributes to the activation of the lectin pathway, probably through the activation of MASP2
  • multidomain serine protease, is a component of the lectin pathway of complement
  • MASP1-induced F2RL3 activation could contribute to the development of the inflammatory reaction
  • essential protease of both the lectin and alternative complement pathways
  • has a crucial role in the initiation steps of lectin pathway activation most probably by activating MASP2
  • likely behave as early guidance cues to direct the migration of neural crest cells during embryonic development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    lectin activation pathway, secreted proteins with diverse functions that, as we have shown here, include the orchestration of cell migration during vertebrate embryogenesis
    a component
  • complexing with MBL2, MASP2 and Map19, a spliced isoforms of MASP2 to form the antibody independent activator ofthe classical pathway of complement
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with L-ficolin/P35 (the complex activates the lectin pathway)
  • mostly found associated with mannose-binding lectin (MBL) and ficolins
  • F2RL3 is a target of MASP1 (MASP1-induced F2RL3 activation could contribute to the development of the inflammatory reaction)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) 3MC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS