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

Gene ID: 19227, updated on 2-Nov-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 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)

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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_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)