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    PTH parathyroid hormone [ Homo sapiens (human) ]

    Gene ID: 5741, updated on 16-Jul-2017
    Official Symbol
    PTHprovided by HGNC
    Official Full Name
    parathyroid hormoneprovided by HGNC
    Primary source
    HGNC:HGNC:9606
    See related
    Ensembl:ENSG00000152266 MIM:168450; Vega:OTTHUMG00000165785
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTH1
    Summary
    This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    11p15.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (13492045..13496175, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13513601..13517567, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene aryl hydrocarbon receptor nuclear translocator like Neighboring gene RNA, 7SK small nuclear pseudogene 151 Neighboring gene BTB domain containing 10 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36 Neighboring gene ribosomal protein L39 pseudogene 26 Neighboring gene fatty acyl-CoA reductase 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypoparathyroidism familial isolated
    MedGen: C1832648 OMIM: 146200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
      Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
      Osteoblast Signaling, organism-specific biosystem
      Osteoblast Signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Vitamin D Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin D Metabolism, organism-specific biosystemPhotochemical synthesis of vitamin D3 (cholecalciferol, D3) occurs cutaneously where pro-vitamin D3 (7-dehydrocholesterol) is converted to pre-vitamin D3 (pre-D3) in response to ultraviolet B (sunlig...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptide hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide hormone receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein N-terminus binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor agonist activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type 1 parathyroid hormone receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    activation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    bone resorption IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    bone resorption NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cAMP metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular macromolecule biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    hormone-mediated apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of apoptotic process in bone marrow IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of bone mineralization involved in bone maturation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation in bone marrow IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inositol phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of osteoclast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to fibroblast growth factor IEA
    Inferred from Electronic Annotation
    more info
     
    response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to parathyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    parathyroid hormone
    Names
    parathormone
    parathyrin
    parathyroid hormone 1
    prepro-PTH
    preproparathyroid hormone

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008962.1 RefSeqGene

      Range
      5001..8976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000315.3NP_000306.1  parathyroid hormone isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_000306.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AA889450, BX106232, W52796
      Consensus CDS
      CCDS7812.1
      UniProtKB/Swiss-Prot
      P01270
      Related
      ENSP00000282091.1, OTTHUMP00000230966, ENST00000282091.5, OTTHUMT00000386198
      Conserved Domains (1) summary
      smart00087
      Location:3065
      PTH; Parathyroid hormone
    2. NM_001316352.1NP_001303281.1  parathyroid hormone isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AA889450, BG188276, W52796
      Conserved Domains (1) summary
      smart00087
      Location:6297
      PTH; Parathyroid hormone

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      13492045..13496175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      13512562..13516692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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