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FLASH GENE
Symbol PLEKHM1 contributors: mct/npt/shn - updated : 06-02-2019
HGNC name pleckstrin homology domain containing, family M (with RUN domain) member 1
HGNC id 29017
Corresponding disease
OPTB6 osteopetrosis type B6
Location 17q21.31      Physical location : 128.328 - 43.568.146
Synonym name
  • 162 kDa adapter protein
  • PH domain-containing family M member 1
  • pleckstrin homology domain-containing family M member 1
    • Synonym symbol(s) KIAA0356, AP162, B2, OPTB6
    DNA
    TYPE functioning gene
    STRUCTURE 54.84 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D17S686 - D17S950 - PLEKHM1 - D17S810 - D17S1380E - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5277 117 1056 - Van Wesenbeeck (2007)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly Homo sapiens
    Reproductivefemale systemplacenta  lowly Homo sapiens
     female systemovary  lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    Urinarykidney   lowly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RUN domain of PLEKHM1 is necessary and sufficient for interaction with ARL8B and its subsequent localization to lysosomes
  • a RH domain
    • HOMOLOGY
    interspecies ortholog to Plekhm1, Mus musculus
    ortholog to Plekhm1, Rattus norvegicus
    ortholog to PLEKHM1, Pan troglodytes
    Homologene
    FAMILY
  • pleckstrin-like family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text colocalized with RAB7 to late endosomal/lysosomal vesicles
    basic FUNCTION
  • essential protein for bone resorption, may be linked to small GTPase signaling (
  • having a putative critical function in vesicular transport in the osteoclast (
  • involved in osteoclast endosomal vesicle acidification and ACP5 exocytosis, contributing to events involved in osteoclast-osteoblast cross-talk
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • sialyl-Le(x)-positive mucin (
  • Rab7 (
  • PLEKHM1, DEF8, FAM98A, and NDEL1 constitute a molecular complex that regulates lysosome positioning and secretion through RAB7
  • PLEKHM1 simultaneously binds RAB7A and ARL8B, bringing about clustering and fusion of late endosomes and lysosomes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPTB6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    osteopetrotic phenotype of the incisors absent rat (Van Wesenbeeck 2007)