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FLASH GENE
Symbol LYST contributors: shn/npt - updated : 10-12-2009
HGNC name lysosomal trafficking regulator
HGNC id 1968
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • extended hydrophobic helical domain with the ARM and HEAT motifs
  • a pleckstrin homology (PH) domain
  • seven WD-40 repeats in C-terminal region
  • a BEACH domain
  • a region with homology to the coiled-coil phosphoprotein stathmin
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to Lyst, Mus musculus
    ortholog to Lyst, rattus norvegicus
    ortholog to LYST, Pan troglodytes
    ortholog to lyst, Danio rerio
    Homologene
    FAMILY
    CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • regulating intracellular protein trafficking to and from the lysosome
  • required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules (Faigle 1998)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SNARE-complex protein HRS
  • 14-3-3, and Casein kinase II beta-subunit
  • Troponin I
  • Hepatocyte growth factor–regulated tyrosine kinase substrate (HRS)
  • Cterminus of calmodulin (CALM)
  • C-terminal half of a steroid hormone receptor, estrogen receptor-related protein (ERR1)
  • C-terminal halves of the importin beta-subunit, imogen 38, and norbin
  • DiGeorge syndrome critical region gene 14 (DGS-I)
  • LIP1-LIP9
  • atrophin-1
  • embryonic Fyn substrate-1 (EFS1)
  • the N-terminus of OPA-containing protein heterogeneous nuclear riboprotein M4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation in beige gene, a homologue of the gene for the human disorder Chediak-Higashi syndrome, in mouse results in hypopigmentation, bleeding and immune cell dysfunction (Perou 1996)
  • murine mutant Lyst allele (bg-grey) found in an ENU mutation screen exhibits melanosomes of melanocytes associated with hair follicles and the choroid layer of the eye and melanosomes in the neural tube-derived pigment epithelium of the retina. Secretory vesicles in dermal mast cells of the mutant skin were enlarged. Double heterozygotes (Lyst(bg)/Lyst(bg-grey)) were phenotypically indistinguishable from either homozygous Lyst(bg) or Lyst(bg-grey) (Runkel 2006)
  • Lyst mutant mice uniformly exhibit exfoliation syndrome-like transillumination defects : sawtooth morphology of the iris pigment epithelium, produce an exfoliative-like material and pronounced pigment dispersion (Trantow 2009)