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FLASH GENE
Symbol SHROOM1 contributors: mct - updated : 26-10-2011
HGNC name shroom family member 1
HGNC id 24084
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a PDZ
  • a unique domain, ASD2 (Apx/Shroom domain 2), characteristic signature of the SHRM family
    • HOMOLOGY
    interspecies homolog to murine Shroom1
    Homologene
    FAMILY SHROOM family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • putatively involved in the regulation of amiloride-sensitive sodium channel activity
  • critical determinant of the cellular architecture requirig for prosper neurulation
  • SHROOM family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons
  • PDZ-domain protein involved in the regulation and maintenance of cytoskeletal architecture by binding to actin
  • involved in linking MCAM to the cytoskeleton
  • SHROOM family proteins play an important role in the morphogenesis of several different epithelial tissues during development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • regulator of cell shape changes in the developing nervous system
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the cytoplasmic domain of melanoma cell adhesion molecule (MCAM)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in pulmonary arterial hypertension suggesting a link between SHROOM1 expression and pulmonary arterial smooth muscle cell hypertrophy in pulmonary arterial hypertension (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutated in mouse Shrm causing exencepaly, acrania, facial clefting and spina bifida, all of wich can be attributed to failes neural tube closure