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FLASH GENE
Symbol SDK1 contributors: mct - updated : 13-02-2008
HGNC name sidekick homolog 1, cell adhesion molecule (chicken)
HGNC id 19307
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal sequence
  • six immunoglobulin C2 motifs
  • 13 fibronectin type III motifs
  • a single transmembrane domain
  • an approximately 200-amino acid cytoplasmic domain
  • A C-terminal hexapeptide, GFSSFV, predicted to bind PDZ domains
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to drosophila Sdk
    Homologene
    FAMILY
  • transmembrane immunoglobulin superfamily
    • CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating homophilic adhesion and direct laminar targeting of neurites
  • having a structure consistent with its participation in cell-cell interaction during eye development
  • determinants of lamina-specific synaptic connectivity
  • important mediator of cellular adhesion in HIV-infected podocytes and may contribute to podocyte clustering that is characteristic of pseudocrescent formation in HIV associated nephropathy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with DSCAM1 (direct lamina-specific synaptic connections in vertebrate retina)
  • associates with the slit diaphragm linker protein MAGI1, which is already known to interact with several critical podocyte proteins including synaptopodin, ACTNA4, NPHS1, IGSF5, and beta-catenin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in glomeruli in HIV-associated nephropathy
    constitutional     --over  
    in podocytes is an important pathogenic factor in FSGS (Focal segmental glomerulosclerosis) and the mechanism involves disruption of the actin cytoskeleton possibly via alterations in MAGI1 function (MID: 20562105)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mouse model of chronic FSGS that implicates the sdk-1 genetic pathway as important to the pathogenesis of glomerular sclerosis