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Gene: PTH1R (parathyroid hormone 1 receptor) Homo sapiens
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Symbol: PTH1R
Name: parathyroid hormone 1 receptor
Description: Exhibits several functions, including parathyroid hormone receptor activity; protein homodimerization activity; and protein self-association. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Localizes to integral component of plasma membrane. Implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EKNS; MGC138426; MGC138452; parathyroid hormone receptor 1; parathyroid hormone/parathyroid hormone-related peptide receptor; parathyroid hormone/parathyroid hormone-related protein receptor; PFE; PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH1 receptor; PTHR; PTHR1; seven transmembrane helix receptor
Orthologs:
Mus musculus (house mouse) : Pth1r (parathyroid hormone 1 receptor)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pth1r (parathyroid hormone 1 receptor)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pth1r (parathyroid hormone 1 receptor)
Pan paniscus (bonobo/pygmy chimpanzee) : PTH1R (parathyroid hormone 1 receptor)
Canis lupus familiaris (dog) : PTH1R (parathyroid hormone 1 receptor)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pth1r (parathyroid hormone 1 receptor)
Sus scrofa (pig) : PTH1R (parathyroid hormone 1 receptor)
Chlorocebus sabaeus (African green monkey) : PTH1R (parathyroid hormone 1 receptor)
Heterocephalus glaber (naked mole-rat) : Pth1r (parathyroid hormone 1 receptor)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl346,877,721 - 46,903,799 (+)EnsemblGRCh38hg38GRCh38
GRCh38346,877,689 - 46,903,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37346,919,236 - 46,945,289 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36346,894,240 - 46,920,293 (+)NCBINCBI36hg18NCBI36
Build 34346,894,239 - 46,920,291NCBI
Celera346,857,742 - 46,883,797 (+)NCBI
Cytogenetic Map3p21.31NCBI
HuRef346,962,340 - 46,988,376 (+)NCBIHuRef
CHM1_1346,869,336 - 46,895,385 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Molecular Pathway Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
 
More on PTH1R
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731312
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-05-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.