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PTH1R parathyroid hormone 1 receptor [ Homo sapiens (human) ]

Gene ID: 5745, updated on 17-Jul-2021

Summary

Official Symbol
PTH1Rprovided by HGNC
Official Full Name
parathyroid hormone 1 receptorprovided by HGNC
Primary source
HGNC:HGNC:9608
See related
Ensembl:ENSG00000160801 MIM:168468
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFE; EKNS; PTHR; PTHR1
Summary
The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Expression
Biased expression in kidney (RPKM 58.6), adrenal (RPKM 5.4) and 2 other tissues See more
Orthologs
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Genomic context

See PTH1R in Genome Data Viewer
Location:
3p21.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (46877689..46903799)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46919211..46945289)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene serine protease 42, pseudogene Neighboring gene myosin light chain 3 Neighboring gene Sharpr-MPRA regulatory region 5172 Neighboring gene coiled-coil domain containing 12 Neighboring gene Sharpr-MPRA regulatory region 2536

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Chondrodysplasia Blomstrand type
MedGen: C1859148 OMIM: 215045 GeneReviews: Not available
not available
Eiken syndrome
MedGen: C1838779 OMIM: 600002 GeneReviews: Not available
not available
Failure of tooth eruption, primary
MedGen: C1852222 OMIM: 125350 GeneReviews: Not available
not available
Metaphyseal chondrodysplasia, Jansen type
MedGen: C0265295 OMIM: 156400 GeneReviews: Not available
not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of parathyroid hormone 1 receptor (PTH1R) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138426, MGC138452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables parathyroid hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables parathyroid hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptide hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IEA
Inferred from Electronic Annotation
more info
 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in bone resorption IEA
Inferred from Electronic Annotation
more info
 
involved_in cell maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast development IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of inositol phosphate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
parathyroid hormone/parathyroid hormone-related peptide receptor
Names
PTH/PTHr receptor
PTH/PTHrP type I receptor
PTH1 receptor
parathyroid hormone receptor 1
parathyroid hormone/parathyroid hormone-related protein receptor
seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_008864.1 RefSeqGene

    Range
    4976..31054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000316.3NP_000307.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

    See identical proteins and their annotated locations for NP_000307.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC109583, CA412652, U17418
    Consensus CDS
    CCDS2747.1
    UniProtKB/Swiss-Prot
    Q03431
    UniProtKB/TrEMBL
    A0A024R2Z8
    Related
    ENSP00000402723.1, ENST00000449590.6
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  2. NM_001184744.1NP_001171673.1  parathyroid hormone/parathyroid hormone-related peptide receptor precursor

    See identical proteins and their annotated locations for NP_001171673.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC110388, BQ574694, L04308
    Consensus CDS
    CCDS2747.1
    UniProtKB/Swiss-Prot
    Q03431
    UniProtKB/TrEMBL
    A0A024R2Z8, Q0VGD7
    Related
    ENSP00000413774.2, ENST00000430002.6
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    46877689..46903799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533967.3XP_011532269.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    Conserved Domains (2) summary
    pfam00002
    Location:197468
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:118186
    HRM; Hormone receptor domain
  2. XM_017006934.1XP_016862423.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X5

  3. XM_011533968.2XP_011532270.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

    Conserved Domains (2) summary
    pfam00002
    Location:191462
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:112180
    HRM; Hormone receptor domain
  4. XM_017006933.1XP_016862422.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3

    UniProtKB/Swiss-Prot
    Q03431
    UniProtKB/TrEMBL
    A0A024R2Z8
    Conserved Domains (3) summary
    pfam02793
    Location:105173
    HRM; Hormone receptor domain
    cd14964
    Location:187211
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:184476
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
  5. XM_017006932.2XP_016862421.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

    Conserved Domains (2) summary
    pfam00002
    Location:197468
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:118186
    HRM; Hormone receptor domain
  6. XM_005265344.3XP_005265401.1  parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4

    Conserved Domains (2) summary
    pfam00002
    Location:153424
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:74142
    HRM; Hormone receptor domain
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