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    Pth parathyroid hormone [ Mus musculus (house mouse) ]

    Gene ID: 19226, updated on 10-Mar-2024

    Summary

    Official Symbol
    Pthprovided by MGI
    Official Full Name
    parathyroid hormoneprovided by MGI
    Primary source
    MGI:MGI:97799
    See related
    Ensembl:ENSMUSG00000059077 AllianceGenome:MGI:97799
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pthp
    Summary
    Enables hormone activity. Involved in calcium ion homeostasis; magnesium ion homeostasis; and phosphate ion homeostasis. Acts upstream of or within several processes, including homeostasis of number of cells within a tissue; negative regulation of apoptotic process in bone marrow cell; and positive regulation of cell population proliferation. Located in extracellular space. Is expressed in 2nd branchial arch; 3rd branchial pouch; 3rd branchial pouch dorsal endoderm; foregut gland; and parathyroid gland. Human ortholog(s) of this gene implicated in several diseases, including chronic kidney disease; diabetes mellitus (multiple); familial isolated hypoparathyroidism; hyperphosphatemia; and secondary hyperparathyroidism. Orthologous to human PTH (parathyroid hormone). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See Pth in Genome Data Viewer
    Location:
    7 F1; 7 59.19 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (112984783..112987879, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (113385576..113388672, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix ARNT like 1 Neighboring gene STARR-seq mESC enhancer starr_19903 Neighboring gene STARR-seq mESC enhancer starr_19904 Neighboring gene predicted gene, 33721 Neighboring gene STARR-positive B cell enhancer ABC_E11364 Neighboring gene BTB domain containing 10 Neighboring gene STARR-positive B cell enhancer ABC_E3744 Neighboring gene STARR-positive B cell enhancer ABC_E9297 Neighboring gene STARR-seq mESC enhancer starr_19909 Neighboring gene STARR-positive B cell enhancer mm9_chr7:120611773-120612073 Neighboring gene BCL2-associated transcription factor 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_19911 Neighboring gene STARR-positive B cell enhancer ABC_E1355 Neighboring gene STARR-positive B cell enhancer ABC_E10465 Neighboring gene fatty acyl CoA reductase 1 Neighboring gene fatty acyl CoA reductase 1, opposite strand

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC117651

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables parathyroid hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables parathyroid hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables receptor ligand activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables type 1 parathyroid hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activation of phospholipase C activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within homeostasis of number of cells within a tissue IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within intracellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within macromolecule biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in magnesium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process in bone marrow cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of bone mineralization involved in bone maturation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of chondrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphate ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cell proliferation in bone marrow IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of glucose import ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of inositol phosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of ossification ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of osteoclast proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_020623.2NP_065648.1  parathyroid hormone precursor

      See identical proteins and their annotated locations for NP_065648.1

      Status: VALIDATED

      Source sequence(s)
      AC156987, AK138677
      Consensus CDS
      CCDS21756.1
      UniProtKB/TrEMBL
      Q9Z0L6
      Related
      ENSMUSP00000078723.6, ENSMUST00000079793.7
      Conserved Domains (1) summary
      smart00087
      Location:3065
      PTH; Parathyroid hormone

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      112984783..112987879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017322045.2XP_017177534.1  parathyroid hormone isoform X1

      Conserved Domains (1) summary
      smart00087
      Location:6196
      PTH; Parathyroid hormone