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FLASH GENE
Symbol CSMD1 contributors: mct - updated : 06-12-2017
HGNC name CUB and Sushi multiple domains 1
HGNC id 14026
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminus, which contains a signal peptide,
  • 14 alternating CUB and sushi domains
  • 13 additional tandem sushi domains
  • a transmembrane region,
  • 63-amino acid C-terminal cytoplasmic tail, which contains several phosphorylation site
  • C terminal transmembrane domain
  • HOMOLOGY
    interspecies homolog to murine Csmd1
    Homologene
    FAMILY CSMD gene family
    CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a possible role in carcinogenesis
  • may be an important regulator of complement activation and inflammation in the developing CNS, and it may also play a role in the context of growth cone function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in head and neck carcinoma
    Susceptibility to multiple sclerosis
    Variant & Polymorphism other increasing the risk of multiple sclerosis (Baranzini (2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS