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

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; AllianceGenome:HGNC:9608
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: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (46877721..46903799)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (46894119..46920191)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (46919211..46945289)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
Title: The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
Title: Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance.
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.
Identification of a novel PTH1R variant in a family with primary failure of eruption.
Title: Identification of a novel PTH1R variant in a family with primary failure of eruption.
Class B1 GPCR activation by an intracellular agonist.
Title: Class B1 GPCR activation by an intracellular agonist.
Rare Variant of PTH1R Mutation in an Indian Family.
Title: Rare Variant of PTH1R Mutation in an Indian Family.
A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.
Title: A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.
Molecular Mechanism of Ca[2+] in the Allosteric Regulation of Human Parathyroid Hormone Receptor-1.
Title: Molecular Mechanism of Ca(2+) in the Allosteric Regulation of Human Parathyroid Hormone Receptor-1.
Osteoporosis and its Association with Vitamin D Receptor, Oestrogen alpha Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.
Title: Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.
Salt inducible kinases and PTH1R action.
Title: Salt inducible kinases and PTH1R action.

Submit: New GeneRIF Correction See all GeneRIFs (137)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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
Metaphyseal chondrodysplasia, Jansen type MedGen: C0265295 OMIM: 156400 GeneReviews: Not available	not available
Primary failure of tooth eruption MedGen: C1852222 OMIM: 125350 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-06-28) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2024-06-28) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80066 (e-PCR)
- UniSTS:87823

STS-L04308 (e-PCR)
- UniSTS:43036

PMC152287P1 (e-PCR)
- UniSTS:271213

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
enables parathyroid hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
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
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

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	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed
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 population proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
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 intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor 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 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 cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype 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

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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)

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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.

Genomic

NG_008864.1 RefSeqGene

Range

4976..31054

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000316.3 → NP_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, Q2M1U3

UniProtKB/TrEMBL

Q0VGD7

Related

ENSP00000402723.1, ENST00000449590.6

Conserved Domains (3) summary

pfam02793
Location:105 → 173

HRM; Hormone receptor domain

cd14964
Location:187 → 211

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:184 → 476

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001184744.1 → NP_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, Q2M1U3

UniProtKB/TrEMBL

Q0VGD7

Related

ENSP00000413774.2, ENST00000430002.6

Conserved Domains (3) summary

pfam02793
Location:105 → 173

HRM; Hormone receptor domain

cd14964
Location:187 → 211

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:184 → 476

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

46877721..46903799

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533967.4 → XP_011532269.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

UniProtKB/TrEMBL

Q0VGD7

Conserved Domains (3) summary

pfam02793
Location:118 → 186

HRM; Hormone receptor domain

cd14964
Location:199 → 224

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:197 → 489

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017006934.2 → XP_016862423.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3
XM_047448633.1 → XP_047304589.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4
XM_011533968.3 → XP_011532270.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2

UniProtKB/TrEMBL

Q0VGD7

Conserved Domains (2) summary

pfam00002
Location:191 → 462

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02793
Location:112 → 180

HRM; Hormone receptor domain
XM_047448632.1 → XP_047304588.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1
XM_017006932.3 → XP_016862421.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1

UniProtKB/TrEMBL

Q0VGD7

Conserved Domains (3) summary

pfam02793
Location:118 → 186

HRM; Hormone receptor domain

cd14964
Location:199 → 224

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:197 → 489

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

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

46894119..46920191

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347374.1 → XP_054203349.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1
XM_054347377.1 → XP_054203352.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X3
XM_054347378.1 → XP_054203353.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X4
XM_054347376.1 → XP_054203351.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X2
XM_054347375.1 → XP_054203350.1 parathyroid hormone/parathyroid hormone-related peptide receptor isoform X1