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FLASH GENE
Symbol OSTM1 contributors: mct/npt - updated : 21-02-2012
HGNC name osteopetrosis associated transmembrane protein 1
HGNC id 21652
Corresponding disease
OPTB5 osteopetrosis type 1B 5
Location 6q21      Physical location : 108.362.614 - 108.395.941
Synonym name
  • grey-lethal osteopetrosis
  • GAIP-interacting protein N terminus
    • Synonym symbol(s) HSPC019, GL, GIPN, UNQ6098/PRO21201, OPTB5
    DNA
    TYPE functioning gene
    STRUCTURE 33.33 kb     6 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • a single M-box (MITF-binding site) in the promoter
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 4467 37.2 334 - 2006 16525474
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Endocrineneuroendocrinepituitary  highly
     thyroid   highly
    Nervousnerve   highly
    Respiratorylung    
    Skin/Tegumentskin   highly
    Urinarybladder    
     kidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoclast
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal leucine-rich region
  • a central RING finger-like domain
  • a putative C-terminal transmembrane domain, that suffices for its CLCN7-dependent trafficking to lysosomes
    • conjugated GlycoP
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies ortholog to murine Ostm1
    homolog to chimpanzee LOC462917
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text
  • co-localized with CLCN7 in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts
    • basic FUNCTION
  • playing an essential role for both osteoclast and melanocyte maturation and function
  • may have an E3-ubiquitin ligase activity and promote proteasome-dependent degradation of Galphai3 subunits
  • could play a role in several hematopoietic cell types, major role in myelopoiesis and lymphopoiesis
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a molecular complex with CLCN7
  • being a beta-subunit of CLCN7
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to RGS proteins
  • interacting with MITF (MITF regulation of the cathepsin K, CLCN7, and OSTM1 genes, which are critical for osteoclast resorption, suggesting that MITF may be a master regulator of osteoclast function and bone resorption)
    • cell & other
    REGULATION
    Other can be autoubiquitinated
    ASSOCIATED DISORDERS
    corresponding disease(s) OPTB5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    expression of both CLCN7 and OSTM1 is increased in activated microglia, which can account for the increased delivery of CLCN7 to lysosomes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    the spontaneous mouse 'grey-lethal' (gl) mutation is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. The mutation is a deletion in the gl gene that results in complete loss of function