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FLASH GENE
Symbol LYST contributors: shn/npt - updated : 10-12-2009
HGNC name lysosomal trafficking regulator
HGNC id 1968
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouthtongue  highly
Endocrinethyroid   highly
Lymphoid/Immunespleen   highly
Skin/Tegumentskin   highly
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Epithelial    
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticneutrophil
Blood/Hematopoieticplatelet
Skin/Tegumentmelanocyte
cell lineage
cell lines
fluid/secretion
at STAGE
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)