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Pth parathyroid hormone [ Mus musculus (house mouse) ]

Gene ID: 19226, updated on 28-Oct-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 negative regulation of apoptotic process in bone marrow cell; positive regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in extracellular space. Is expressed in several structures, including branchial arch; foregut gland primordium; gut gland; and thymus. 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, Oct 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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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 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)
  • Endonuclease-mediated (4) 
  • Targeted (2)  1 citation

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
 
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 phosphate ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of D-glucose import ISO
Inferred from Sequence Orthology
more info
 
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 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)

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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