Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PTH contributors: mct/npt/pgu - updated : 21-12-2017
HGNC name parathyroid hormone
HGNC id 9606
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
isoforms Precursor synthesized as a 115-aa precursor in the parathyroid gland and is converted to the pro-PTH upon removal of the signal peptide (by signal peptidase) within the endoplasmic reticulum (ER). After trafficking to the Golgi apparatus, the pro-PTH is cleaved to the 84-aa mature PTH
HOMOLOGY
Homologene
FAMILY
  • parathyroid hormone family
    • CATEGORY signaling hormone , receptor membrane G
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • elevating calcium level by dissolving the salts in bone and preventing their renal excretion
  • stimulating osteoclast formation by binding to its receptor on stromal/osteoblastic cells and stimulating the production of receptor activator of NFkappaB ligand (RANKL) and inhibiting the expression of osteoprotegerin (OPG)
  • playing a predominant role in appositional bone growth
  • completely suppressed the transcriptional activity of the SOST bone enhancer but did not affect the SOST promoter
  • can regulate the expression of IL18 in osteoblastic cells
  • acts via protein kinase A (PKA) to phosphorylate and stimulate the transactivation of RUNX2 for MMP13 promoter activation
  • PTH and IL21R both have potential biologic functions important to bone metabolism (Pubmed 19874204)
  • suppresses insulin signaling in adipocytes
  • may be having a protective effect on mesenchymal stem cells that reduces stress phenomena and preserve genome integrity
  • in the absence of POSTN, bone formation is impaired and PTH is unable to effectively improve cortical structure and strength
  • upregulates the expression of the receptor activator of TNFSF11 in cells of the osteoblastic lineage
  • role for PTH in the development of vascular dementia
  • effects of PTH are mediated not only by osteoblasts and osteocytes but also by T cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • collaborating with CYP27B1 in modulating skeletal and calcium homeostasis
  • inhibiting SOST transcription
  • binding with PTHR modified by mutation of PTH and PTHLH (induce a conformational change in the PTH1R that promotes arrestin binding and dissociates SlC9A3R1 from PTH1R internalization)
  • regulate EFNBB2 to act in a paracrine or autocrine manner on EEPHB4 or EPHB2 in the osteoblast
  • GNAQ signal plays an inhibitory role in the PTH osteoanabolic action, suggesting that its suppression may lead to a novel treatment in combination with PTH against osteoporosis
  • interacting with ELF4 (is involved in PTH suppression of osteoblasts through activating the MAP2K4/MAPK8 pathway and subsequently up-regulating MAB21L1 expression
  • anabolic action of PTH on bone formation requires FGF2
  • is a novel PTH-responsive factor regulating immune cells and PTH actions on marrow hematopoietic progenitor cells
  • PRG4 is a PTH-responsive gene in bone and liver, and is a dynamic regulator of skeletogenesis and PTH skeletal anabolism
  • POSTN could be involved in the regulation of SOST expression and bone anabolism in response to PTH
  • LRP6 is required for parathyroid hormone (PTH)-stimulated signaling pathways in osteoblasts
  • PTH upregulates TNFSF11 expression in osteocytes and resorption induced by PTH receptor signaling in the adult skeleton requires direct regulation of the TNFSF11 gene in osteocytes
  • activates the orphan nuclear receptor NR4A2 to induce FGF23 transcription
  • PTH is a major regulator of both transcription and translation, and KHSRP binds SLC34A1 mRNA but its role in PTH regulation of SLC34A1 mRNA is not clear
  • PTH can stimulate a novel negative feedback of its anabolic actions by stimulating TNFSF1l and PTGS2 expression
  • the kidney expresses a CASR that might directly contribute to the regulation of many aspects of renal function in a PTH-independent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PTH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in coronary artery diseases, and there is a correlation between high PTH level with hypertension and low ejection fraction
    constitutional     --low  
    in patients with T2DM that have decreased PTH levels (22337915)
    Susceptibility
  • to hypocalcemia (modifier of CASR)
  • to modification of serum 25(OH)-vitamin D level
    • Variant & Polymorphism SNP
  • significant association between specific PTH gene promoter region variants and altered levels of 25(OH)D and vitamin D deficiency
    • Candidate gene
    Marker
  • usefulness of PTH is a predictor of heart failure with preserved ejection fraction
    • Therapy target
    ANIMAL & CELL MODELS