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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
  • Alliance
  • Transcription Start Sites
    4 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr9:110551153-110576213 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • 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
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97801
protein coding gene Chr9:110551132-110576213 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTH1R, parathyroid hormone 1 receptor
  • Synonyms
    EKNS, PFE, PTHR, PTHR1
  • Links
    NCBI Gene ID: 5745
    neXtProt AC: NX_Q03431
    UniProt: Q03431

  • Chr Location
    3p21.31; chr3:46877721-46903799 (+)  GRCh38

Human Diseases
more
  • Diseases
    5 with human PTH1R associations

Human Disease Mouse Models
      
IDs
IDs
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
    69 phenotypes from 6 alleles in 9 genetic backgrounds
    9 phenotypes from multigenic genotypes
    62 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.
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
  • GO References
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032492 Ensembl Gene Model | MGI Sequence Detail 25061 C57BL/6J ±  kb
    transcript ENSMUST00000006005 Ensembl | MGI Sequence Detail 2307 Not Applicable  
    polypeptide ENSMUSP00000006005 Ensembl | 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
    • InterPro Domains
      IPR001879 GPCR, family 2, extracellular hormone receptor domain
      IPR036445 GPCR family 2, extracellular hormone receptor domain superfamily
      IPR017981 GPCR, family 2-like, 7TM
      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 118
      Genomic 5
      cDNA 97
      Primer pair 5
      Other 11

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13669
    References
    more
    • Summaries
      All 249
      Developmental Gene Expression 130
      Gene Ontology 12
      Phenotypes 62
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

    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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    last database update
    05/21/2024
    MGI 6.23
    The Jackson Laboratory