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FLASH GENE
Symbol PTH1R contributors: mct/npt - updated : 01-04-2009
HGNC name parathyroid hormone 1 receptor
HGNC id 9608
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor, secretin family, coupling with Gs alpha protein and activating adenylate cyclase
  • a docking binding site for G protein betagamma subunits
  • a PDZ recognition motif that interacts with SLC9A3R1
    • HOMOLOGY
    interspecies homolog to C.elegans C13B9.4
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
    • CATEGORY signaling hormone , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • mediating the effects of Indian Hedgehog and PTH related peptide on chondrocyte differentiation
  • playing a pivotal role in determining the range of peptides that internalize the PTH1R (Wheeler 2007)
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    PTHR1-signaling pathway is critical for the regulation of endochondral ossification
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SLC9A3R1
  • SLC9A3R2
  • interacting with TCTE1L
    • cell & other
    REGULATION
    Other regulated by mutations of PTH and PTHLH that induce a conformational change in the PTH1R and promotes arrestin binding, dissociating SLC9A3R1 from PTH1R internalization (Wheeler 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) BLOD , CDMJ , EKNS , ECDMM1 , PFTE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS