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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Lymphoid/Immunespleen   highly
Nervousbrainhindbrainmedulla oblongata  
Reproductivemale systemtestis  highly
Visualeyeuveachoroid  
 eyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningendometrium  
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousoptic nerve
Skin/Tegumentmelanocyte
Visualamacrine cell
Visualbipolar cell
Visualcone photoreceptor Homo sapiens
Visualganglion cell
cell lineage
cell lines
fluid/secretion
at STAGE
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