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FLASH GENE
Symbol MFSD8 contributors: mct - updated : 21-04-2011
HGNC name major facilitator superfamily domain containing 8
HGNC id 28486
EXPRESSION
Rna function mRNA is 5-fold more abundant in hippocampus than midbrain, cerebellum or striatum, while cerebral cortices showed an intermediate level (
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Endocrineneuroendocrinepituitary  highly
Hearing/Equilibriumearinnercochlea highly
Nervousbrainlimbic systemhippocampus   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • several cytoplasmic lysosomal targeting signals of which the N-terminal dileucine-based motif is required for the predominant lysosomal targeting along the indirect pathway and clathrin-mediated endocytosis of CLN7 (
  • 12 predicted transmembrane domains
  • an MFS domain (MFS_1)
  • a sugar transporter domain (Sugar_tr)
  • C-terminal tyrosine-based motifs play a minor role in CLN7 targeting
  • HOMOLOGY
    interspecies homolog to murine Mfsd8 (81.7 pc)
    Homologene
    FAMILY
  • major facilitator superfamily (MFS) of transporter proteins
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • multi-pass membrane protein
  • localizes to lysosomes and late endosomes (
  • 20826447)
    basic FUNCTION
  • may be a carrier that transport small solutes by using chemiosmotic ion gradients
  • polytopic lysosomal membrane protein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLN7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS