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FLASH GENE
Symbol EXPH5 contributors: mct/pgu - updated : 12-01-2013
HGNC name exophilin 5
HGNC id 30578
Location 11q22.3      Physical location : 108.376.158 - 108.464.374
Genatlas name melanophilin
Synonym name
  • cDNA sequence,expressed in brain,>100kDa
  • Slp homolog lacking C2 domains b
  • synaptotagmin-like homologue lacking C2 domains b
  • Synonym symbol(s) MGC133291, DKFZp781H0795, KIAA0624, SLAC2-B, DKFZp586F1223, MGC134967
    DNA
    TYPE functioning gene
    STRUCTURE 88.22 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 10164 213.24 1913 - 2002 1218914
    6 - 10208 22.4 1989 - 2002 1218914
    3 - 9850 201 1801 - 2002 1218914
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Skin/Tegument      Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal Slp homology domain (SHD), synaptotagmin-like protein (Slp) homology domain (SHD), referred to as RBD27 (Rab-binding domain specific for RAB27 isoforms)
  • two Ca2+ dependent targeting domains (C2) at the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • SLP family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • localized more to intracellular vesicles and at the periphery of spreading cells where some colocalization with RAB27B was seen
  • basic FUNCTION
  • function as an in vivo Rab27A binding domain
  • RAB27B and EXPH5 have putative roles in intracellular vesicle trafficking
  • role in maintaining keratinocyte integrity, and in inherited skin fragility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB27A by the Slp domain
  • SYTL4 and EXPH5 are RAB27A and RAB27B effectors
  • specific role in controlling beta4 integrin function in keratinocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in autosomal-recessive inherited skin fragility
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS