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FLASH GENE
Symbol SHROOM1 contributors: mct - updated : 26-10-2011
HGNC name shroom family member 1
HGNC id 24084
Location 5q31.1      Physical location : 132.157.834 - 132.166.590
Synonym name
  • apical protein from Xenopus laevis-like 2
  • SHROOM1 protein
    • Synonym symbol(s) KIAA1960, APXL2
    DNA
    TYPE functioning gene
    STRUCTURE 8.76 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4039 - 852 - 2006 16684770
    7 - 3389 - 847 - 2006 16684770
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveintestinelarge intestinecolon   Homo sapiens
     intestinesmall intestine    Homo sapiens
    Nervousbrain     Homo sapiens
    Reproductivefemale systemplacenta    Homo sapiens
    Respiratorylung     Homo sapiens
    Urinarykidney     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth  predominantly Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • broadly expressed in developing epithelial organs, and the epithelial cells that express SHROOM are elongated
    • 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