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Pth1r Gene Detail
Summary
  • Symbol
    Pth1r
  • Name
    parathyroid hormone 1 receptor
  • Synonyms
    PPR, PTH1R, PTH/PTHrP receptor, Pthr1, PTH-related peptide receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:97801
    NCBI Gene: 19228
  • Gene Overview
    MyGene.info: PTH1R
Location & Maps
more
  • Sequence Map
    Chr9:110722085-110747145 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      25061 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 60.56 cM, cytoband F
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    PTH1R, parathyroid hormone 1 receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTH1R, parathyroid hormone 1 receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PFE, PTHR, PTHR1
  • Links
    NCBI Gene ID: 5745
    neXtProt AC: NX_Q03431

  • Chr Location
    3p22-p21.1; chr3:46877717-46903799 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    4 with human PTH1R associations

Human Disease Mouse Models
       Chondrodysplasia, Blomstrand Type; BOCD   OMIM: 215045
Eiken Syndrome   OMIM: 600002
Failure of Tooth Eruption, Primary; PFE   OMIM: 125350
Metaphyseal Chondrodysplasia, Jansen Type   OMIM: 156400
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 6 alleles in 9 genetic backgrounds
    9 phenotypes from multigenic genotypes
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    1
  • Targeted
    8
  • Transgenic
    1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    50
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    306
  • Tissues
    124
  • cDNA Data
    89
  • Literature Summary
    115
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000052494 VEGA Gene Model | MGI Sequence Detail 25061 C57BL/6J ±  kb
transcript OTTMUST00000131642 VEGA | MGI Sequence Detail 2201 Not Applicable  
polypeptide OTTMUSP00000070332 VEGA | MGI Sequence Detail 591 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    55 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000013430 parathyroid hormone/parathyroid hormone-related peptide receptor
  • InterPro Domains
    IPR001879 GPCR, family 2, extracellular hormone receptor domain
    IPR017981 GPCR, family 2-like
    IPR002170 GPCR, family 2, parathyroid hormone receptor
    IPR000832 GPCR, family 2, secretin-like
    IPR017983 GPCR, family 2, secretin-like, conserved site
Molecular
Reagents
less
  • All nucleic 108
    Genomic 5
    cDNA 96
    Primer pair 2
    Other 5

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13669
References
more
  • Summaries
    All 192
    Developmental Gene Expression 115
    Gene Ontology 10
    Phenotypes 40
  • Earliest
    J:2075 Seldin MF, et al., Localization of mouse parathyroid hormone-like peptide gene (Pthlh) to distal chromosome 6 using interspecific backcross mice and in situ hybridization. Cytogenet Cell Genet. 1992;60(3-4):252-4
  • Latest
    J:232815 Kir S, et al., PTH/PTHrP Receptor Mediates Cachexia in Models of Kidney Failure and Cancer. Cell Metab. 2016 Feb 9;23(2):315-23
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory