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    Pthlh parathyroid hormone-like peptide [ Mus musculus (house mouse) ]

    Gene ID: 19227, updated on 10-Dec-2024

    Summary

    Official Symbol
    Pthlhprovided by MGI
    Official Full Name
    parathyroid hormone-like peptideprovided by MGI
    Primary source
    MGI:MGI:97800
    See related
    Ensembl:ENSMUSG00000048776 AllianceGenome:MGI:97800
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PLP; Pthrp; PTH-like
    Summary
    This gene encodes a member of the parathyroid family of hormones that possesses distinct paracrine and intracrine signaling roles such as regulation of circulating calcium, transplacental calcium transport, osteoclast inhibition, renal bicarbonate excretion and regulation of apoptosis. The encoded protein undergoes proteolytic processing to generate multiple active peptides with distinct signaling functions. The homozygous deletion of this gene leads to death shortly after birth with a chondrodystrophic phenotype characterized by premature chondrocyte differentiation and accelerated bone formation. [provided by RefSeq, Jul 2015]
    Expression
    Biased expression in bladder adult (RPKM 46.9) and limb E14.5 (RPKM 6.1) See more
    Orthologs
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    Genomic context

    See Pthlh in Genome Data Viewer
    Location:
    6 G3; 6 78.19 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (147153607..147165511, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (147252109..147264013, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA E330012B07 gene Neighboring gene STARR-seq mESC enhancer starr_17822 Neighboring gene STARR-positive B cell enhancer ABC_E14 Neighboring gene predicted gene 15767 Neighboring gene ribosomal protein L5 pseudogene Neighboring gene STARR-seq mESC enhancer starr_17824 Neighboring gene predicted gene 6288 Neighboring gene STARR-positive B cell enhancer ABC_E3693 Neighboring gene coiled-coil domain containing 91

    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)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables hormone activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables peptide hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide hormone receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    NOT acts_upstream_of_or_within bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endoderm development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in magnesium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within mammary gland bud elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within nipple sheath formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within osteoblast development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphate ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within surfactant homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intracellular anatomical structure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    parathyroid hormone-related protein
    Names
    PTH-related peptide
    parathyroid hormone-like hormone
    parathyroid hormone-like protein
    parathyroid hormone-related peptide

    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_008970.4NP_032996.2  parathyroid hormone-related protein preproprotein

      See identical proteins and their annotated locations for NP_032996.2

      Status: REVIEWED

      Source sequence(s)
      AC156278, AW488290, AY220497, CJ063300, CJ063309
      Consensus CDS
      CCDS39717.1
      UniProtKB/Swiss-Prot
      P22858
      UniProtKB/TrEMBL
      Q540C1, Q924X4
      Related
      ENSMUSP00000051433.7, ENSMUST00000052296.9
      Conserved Domains (1) summary
      pfam01279
      Location:35117
      Parathyroid; Parathyroid hormone family

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      147153607..147165511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)