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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
    Physical map
    RTN4IP1 6q21 reticulon 4 interacting protein 1 QRSL1 6q21 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 C6orf203 6q21 chromosome 6 open reading frame 203 KIAA1553 6q21 KIAA1553 C6orf210 6q21 chromosome 6 open reading frame 210 FLJ10159 6q21 hypothetical protein FLJ10159 SCML4 6q21 sex comb on midleg-like 4 (Drosophila) SEC63 6q21 SEC63-like (S. cerevisiae) LOC285752 6q21 similar to ribosomal protein L3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B OSTM1 6q21 osteopetrosis associated transmembrane protein 1 NR2E1 6q21 nuclear receptor subfamily 2, group E, member 1 SNX3 6q13-q22.3 sorting nexin 3 LACE1 6q22.1 lactation elevated 1 FOXO3A 6q21 forkhead box O3A LOC391958 6 similar to zinc finger protein 259; zinc finger protein ZPR1 ARMC2 6q21 armadillo repeat containing 2 SESN1 6q21 sestrin 1 C6orf182 6q21 chromosome 6 open reading frame 182 LOC389422 6 LOC389422 FLJ37396 6q21 hypothetical protein FLJ37396 C6orf184 6q21 chromosome 6 open reading frame 184 LOC345875 6q21 similar to ribosomal protein L7-like 1 C6orf185 6q21 chromosome 6 open reading frame 185 CD164 6q21 CD164 antigen, sialomucin PPIL6 6q21 peptidylprolyl isomerase (cyclophilin)-like 6 SMPD2 6q22.1 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) NICAL 6q21 NEDD9 interacting protein with calponin homology and LIM domains ZNF450 6q22.1 zinc finger protein 450
    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