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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:110722085-110747145 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 60.56 cM, cytoband F
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    55 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97801
 protein coding gene Chr9:110722085-110747145 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035354
 protein coding gene Chr9:112894095-112920188 (-)
A/J MGP_AJ_G0035335
 protein coding gene Chr9:108782849-108807960 (-)
AKR/J MGP_AKRJ_G0035266
 protein coding gene Chr9:111485308-111510332 (-)
BALB/cJ MGP_BALBcJ_G0035330
 protein coding gene Chr9:108531484-108556675 (-)
C3H/HeJ MGP_C3HHeJ_G0035038
 protein coding gene Chr9:111990440-112022469 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035852
 protein coding gene Chr9:115962648-115990202 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032738
 protein coding gene Chr9:106000906-106025959 (-)
CAST/EiJ MGP_CASTEiJ_G0034344
 protein coding gene Chr9:111786087-111811243 (-)
CBA/J MGP_CBAJ_G0035005
 protein coding gene Chr9:120274037-120301754 (-)
DBA/2J MGP_DBA2J_G0035164
 protein coding gene Chr9:108246247-108271906 (-)
FVB/NJ MGP_FVBNJ_G0035111
 protein coding gene Chr9:107073769-107098962 (-)
LP/J MGP_LPJ_G0035243
 protein coding gene Chr9:113183573-113213045 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035151
 protein coding gene Chr9:121609513-121635801 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035872
 protein coding gene Chr9:111827842-111854999 (-)
PWK/PhJ MGP_PWKPhJ_G0034051
 protein coding gene Chr9:108491538-108517115 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033886
 protein coding gene Chr9:111907294-111933019 (-)
WSB/EiJ MGP_WSBEiJ_G0034465
 protein coding gene Chr9:111693335-111719958 (-)



Homology
more
  • Human Ortholog
    PTH1R, parathyroid hormone 1 receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTH1R, parathyroid hormone 1 receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EKNS, PFE, PTHR, PTHR1
  • Links
    NCBI Gene ID: 5745
    neXtProt AC: NX_Q03431
    UniProt: Q03431

  • Chr Location
    3p21.31; chr3:46877690-46903799 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    3 with human PTH1R associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 6 alleles in 9 genetic backgrounds
    9 phenotypes from multigenic genotypes
    54 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    53
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    318
  • Tissues
    127
  • cDNA Data
    90
  • Literature Summary
    122
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19228 NCBI Gene Model | MGI Sequence Detail 25061 C57BL/6J ±  kb
    transcript NM_001083936 RefSeq | MGI Sequence Detail 2269 C57BL/6  
    polypeptide P41593 UniProt | EBI | MGI Sequence Detail 591 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000013430 parathyroid hormone/parathyroid hormone-related peptide receptor
      (term hierarchy)
    • InterPro Domains
      IPR001879 GPCR, family 2, extracellular hormone receptor domain
      IPR036445 GPCR family 2, extracellular hormone receptor domain superfamily
      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 112
      Genomic 5
      cDNA 97
      Primer pair 4
      Other 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13669
    References
    more
    • Summaries
      All 226
      Developmental Gene Expression 122
      Gene Ontology 12
      Phenotypes 54
    • 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:273371 Saito H, et al., TG-interacting factor 1 (Tgif1)-deficiency attenuates bone remodeling and blunts the anabolic response to parathyroid hormone. Nat Commun. 2019 Mar 22;10(1):1354
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    10/15/2019
    MGI 6.14     		The Jackson Laboratory