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FLASH GENE
Symbol HMCN1 contributors: mct - updated : 05-06-2013
HGNC name hemicentin-1
HGNC id 19194
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven EGF-like domains, and EGF repeats 4 and 5 are required for the hemicentin-dependent assembly
  • 44 Ig-like C2-type (immunoglobulin-like) domains
  • one nidogen G2 beta-barrel domain
  • six TSP type-1 domains
  • one VWFA domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus LOC289094
    Homologene
    FAMILY immunoglobulin superfamily
    CATEGORY structural protein , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
    basic FUNCTION
  • hemicentin tracks facilitate mechanosensory neuron anchorage to the epidermis, gliding of the developing gonad along epithelial basement membranes and germline cellularization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • calcium Ca2+
  • ATP binding
  • protein
  • Fibrillin2 is an indispensable interaction partner of HMCN1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to age-related macular degeneration (see ARMD1)
    Variant & Polymorphism other Gln5345Arg mutation increasing the risk of age-related macular degeneration
    Candidate gene FBLN6
    Marker
    Therapy target
    ANIMAL & CELL MODELS