Pth1r parathyroid hormone 1 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pth1rprovided by MGI
Official Full Name: parathyroid hormone 1 receptorprovided by MGI
Primary source: MGI:MGI:97801
See related: Ensembl:ENSMUSG00000032492 AllianceGenome:MGI:97801
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PPR; Pthr; Pthr1
Summary: Enables parathyroid hormone receptor activity. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; bone resorption; and osteoblast development. Predicted to be located in apical plasma membrane; basolateral plasma membrane; and brush border membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including extraembryonic component; integumental system; limb; lung; and skeleton. Human ortholog(s) of this gene implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption. Orthologous to human PTH1R (parathyroid hormone 1 receptor). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 207.3), limb E14.5 (RPKM 43.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F2; 9 60.56 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (110551132..110576213, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (110722085..110747145, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pth1r in Neural Crest Cells Regulates Nasal Cartilage Differentiation.
Title: Pth1r in Neural Crest Cells Regulates Nasal Cartilage Differentiation.
Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.
Title: Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2.
Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis.
Title: Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis.
PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner.
Title: PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner.
MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism.
Title: MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism.
Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow.
Title: Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow.
Activation of PTH1R alleviates epididymitis and orchitis through Gq and beta-arrestin-1 pathways.
Title: Activation of PTH1R alleviates epididymitis and orchitis through Gq and β-arrestin-1 pathways.
Kindlin-2 regulates skeletal homeostasis by modulating PTH1R in mice.
Title: Kindlin-2 regulates skeletal homeostasis by modulating PTH1R in mice.
Parathyroid hormone type 1 receptor regulates osteosarcoma K7M2 Cell growth by interacting with angiotensinogen.
Title: Parathyroid hormone type 1 receptor regulates osteosarcoma K7M2 Cell growth by interacting with angiotensinogen.
Pleckstrin homology (PH) domain and Leucine Rich Repeat Phosphatase 1 (Phlpp1) Suppresses Parathyroid Hormone Receptor 1 (Pth1r) Expression and Signaling During Bone Growth.
Title: Pleckstrin homology (PH) domain and Leucine Rich Repeat Phosphatase 1 (Phlpp1) Suppresses Parathyroid Hormone Receptor 1 (Pth1r) Expression and Signaling During Bone Growth.

Submit: New GeneRIF Correction See all GeneRIFs (73)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:498482 (e-PCR)
- UniSTS:498482

Pthr1 (e-PCR), detects polymorphism
- UniSTS:498482

D2S2154 (e-PCR)
- UniSTS:26461

PMC135637P2 (e-PCR)
- UniSTS:270763

UniSTS:498400 (e-PCR)
- UniSTS:498400

Pthr1 (e-PCR), detects polymorphism
- UniSTS:498400

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables parathyroid hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables parathyroid hormone receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables parathyroid hormone receptor activity	ISO Inferred from Sequence Orthology more info
enables parathyroid hormone receptor activity	TAS Traceable Author Statement more info	PubMed
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone binding	ISO Inferred from Sequence Orthology more info
enables peptide hormone binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	ISO Inferred from Sequence Orthology more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phospholipase C-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inositol phosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: parathyroid hormone/parathyroid hormone-related peptide receptor

Names: PTH-related peptide receptor; PTH/PTHr receptor; PTH/PTHrP receptor; PTH/PTHrP type I receptor; PTH1 receptor; parathyroid hormone receptor 1

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)

NM_001083935.1 → NP_001077404.1 parathyroid hormone/parathyroid hormone-related peptide receptor precursor

See identical proteins and their annotated locations for NP_001077404.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC139378, AI607947, BC051981, CB192926

Consensus CDS

CCDS52940.1

UniProtKB/Swiss-Prot

P41593, Q62119, Q80WU8

UniProtKB/TrEMBL

Q91WV4

Related

ENSMUSP00000132064.2, ENSMUST00000166716.8

Conserved Domains (2) summary

pfam00002
Location:184 → 455

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02793
Location:105 → 170

HRM; Hormone receptor domain
NM_001083936.1 → NP_001077405.1 parathyroid hormone/parathyroid hormone-related peptide receptor precursor

See identical proteins and their annotated locations for NP_001077405.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AI607947, BB614354, BC051981

Consensus CDS

CCDS52940.1

UniProtKB/Swiss-Prot

P41593, Q62119, Q80WU8

UniProtKB/TrEMBL

Q91WV4

Related

ENSMUSP00000006005.8, ENSMUST00000006005.12

Conserved Domains (2) summary

pfam00002
Location:184 → 455

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02793
Location:105 → 170

HRM; Hormone receptor domain
NM_011199.2 → NP_035329.2 parathyroid hormone/parathyroid hormone-related peptide receptor precursor

See identical proteins and their annotated locations for NP_035329.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC139378, AI607947, BC051981, BY005592

Consensus CDS

CCDS52940.1

UniProtKB/Swiss-Prot

P41593, Q62119, Q80WU8

UniProtKB/TrEMBL

Q91WV4

Related

ENSMUSP00000143298.2, ENSMUST00000198865.5

Conserved Domains (2) summary

pfam00002
Location:184 → 455

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02793
Location:105 → 170

HRM; Hormone receptor domain

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

110551132..110576213 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154708.1 → XP_036010601.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X5

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:133 → 198

HRM; Hormone receptor domain

cd14964
Location:214 → 239

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:212 → 504

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154712.1 → XP_036010605.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X7

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:111 → 176

HRM; Hormone receptor domain

cd14964
Location:192 → 217

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:190 → 482

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154709.1 → XP_036010602.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:117 → 182

HRM; Hormone receptor domain

cd14964
Location:198 → 223

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:196 → 488

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_006511988.5 → XP_006512051.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X8

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

cd14964
Location:180 → 205

7tm_GPCRs; TM helix 1 [structural motif]

pfam02793
Location:99 → 164

HRM; Hormone receptor domain

cl28897
Location:178 → 470

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154713.1 → XP_036010606.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X7

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:111 → 176

HRM; Hormone receptor domain

cd14964
Location:192 → 217

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:190 → 482

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154710.1 → XP_036010603.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:117 → 182

HRM; Hormone receptor domain

cd14964
Location:198 → 223

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:196 → 488

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154706.1 → XP_036010599.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:175 → 240

HRM; Hormone receptor domain

cd14964
Location:256 → 281

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:254 → 546

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154711.1 → XP_036010604.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X6

UniProtKB/TrEMBL

Q91WV4

Conserved Domains (3) summary

pfam02793
Location:117 → 182

HRM; Hormone receptor domain

cd14964
Location:198 → 223

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:196 → 488

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_006511985.3 → XP_006512048.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

Conserved Domains (4) summary

pfam01543
Location:51 → 114

HCV_capsid; Hepatitis C virus capsid protein

cd14964
Location:328 → 353

7tm_GPCRs; TM helix 1 [structural motif]

pfam02793
Location:247 → 312

HRM; Hormone receptor domain

cl28897
Location:326 → 618

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154705.1 → XP_036010598.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

Conserved Domains (4) summary

PHA03247
Location:6 → 113

PHA03247; large tegument protein UL36; Provisional

pfam02793
Location:259 → 324

HRM; Hormone receptor domain

cd14964
Location:340 → 365

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:338 → 630

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036154707.1 → XP_036010600.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

Conserved Domains (4) summary

PHA03247
Location:6 → 113

PHA03247; large tegument protein UL36; Provisional

pfam02793
Location:259 → 324

HRM; Hormone receptor domain

cd14964
Location:340 → 365

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:338 → 626

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily