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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
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)