Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5745
Gene name	Parathyroid hormone 1 receptor
Gene symbol	PTH1R
Synonyms (NCBI Gene)	EKNSPFEPTHRPTHR1
Chromosome	3
Chromosome location	3p21.31
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 whi

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434597	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434598	A>C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121434599	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434600	T>G	Pathogenic	Missense variant, coding sequence variant
rs121434602	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121434603	C>T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121434604	C>T	Pathogenic	Stop gained, coding sequence variant
rs121434605	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs398122843	G>A	Pathogenic	Missense variant, coding sequence variant
rs769180471	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1575524795	C>G	Pathogenic	Intron variant

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	9745456
GO:0001503	Process	Ossification	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IDA	35932760
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004991	Function	Parathyroid hormone receptor activity	IBA
GO:0004991	Function	Parathyroid hormone receptor activity	IDA	8397094, 19674967, 30975883, 35932760
GO:0004991	Function	Parathyroid hormone receptor activity	IEA
GO:0004991	Function	Parathyroid hormone receptor activity	TAS	9927325
GO:0005515	Function	Protein binding	IPI	19674967, 23124878, 32296183
GO:0005634	Component	Nucleus	TAS	10709993
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	TAS	10709993
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19674967
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8397094
GO:0005886	Component	Plasma membrane	TAS	9745456
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9745456
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9927325
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA	19674967
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	8397094, 27160269, 30975883, 35932760
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IC	19608645
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IDA	19674967
GO:0030282	Process	Bone mineralization	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	27160269
GO:0043235	Component	Receptor complex	ISS
GO:0045453	Process	Bone resorption	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0060732	Process	Positive regulation of inositol phosphate biosynthetic process	ISS

MIM	HGNC	e!Ensembl
168468	9608	ENSG00000160801

Q03431

Protein name

Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor) (PTH/PTHr receptor) (Parathyroid hormone 1 receptor) (PTH1 receptor)

Protein function

G-protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH) (PubMed:10913300, PubMed:18375760, PubMed:19674967, PubMed:27160269, PubMed:30975883, PubMed:35932760, PubMed:8397094). Ligand binding c

PDB

1BL1 , 3C4M , 3H3G , 3L2J , 4Z8J , 5EMB , 6NBF , 6NBH , 6NBI , 7UZO , 7UZP , 7VVJ , 7VVK , 7VVL , 7VVM , 7VVN , 7VVO , 7Y35 , 7Y36 , 8BIA , 8BJ0 , 8D51 , 8D52 , 8FLQ , 8FLR , 8FLS , 8FLT , 8FLU , 8GW8 , 8HA0 , 8HAF , 8HAO , 8JR9 , 9JR2 , 9JR3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02793	HRM	105 → 173	Hormone receptor domain	Family
PF00002	7tm_2	184 → 455	7 transmembrane receptor (Secretin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most tissues. Most abundant in kidney, bone and liver. {ECO:0000269|PubMed:8397094}.

Sequence

MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPA
SIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPL
GAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETRE
REVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVK
DAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWIL
VEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKK
WIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH
YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLA
LDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKP
GTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM

Sequence length

593

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling Parathyroid hormone synthesis, secretion and action Endocrine and other factor-regulated calcium reabsorption		Class B/2 (Secretin family receptors) G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

405

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chondrodysplasia Blomstrand type	Pathogenic	rs398122843, rs121434599, rs1304201852, rs121434604, rs2107055197	RCV000014751 RCV000014752 RCV000014753 RCV000014757 RCV000014758
Eiken syndrome	Pathogenic	rs121434599, rs121434603	RCV002482867 RCV000014756
Metaphyseal chondrodysplasia, Jansen type	Pathogenic; Likely pathogenic	rs121434600, rs121434597, rs121434598, rs121434599, rs121434602, rs769180471	RCV001332362 RCV000014749 RCV000014750 RCV002482867 RCV000014754 RCV000014755 RCV003992376
Primary failure of tooth eruption	Pathogenic; Likely pathogenic	rs2107039234, rs1575522892, rs2545050758, rs121434597, rs121434599, rs1575524795, rs2107035467, rs121434605, rs769180471	RCV002250276 RCV002289254 RCV003224790 RCV002247338 RCV002482867 RCV000014759 RCV000014760 RCV000014761 RCV000723315
Pseudohypoparathyroidism	Likely pathogenic	rs2107040144	RCV002225936
See cases	Pathogenic	rs2545048376	RCV004584510

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Brachydactyly type E1	Conflicting classifications of pathogenicity	rs1683106396	RCV005213617
Cholangiocarcinoma	Benign	rs724450	RCV005919622
Chondrodysplasia	Benign; Conflicting classifications of pathogenicity	rs142021243, rs754628395	RCV000377157 RCV000317262
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs112382430, rs1683106396, rs201749357, rs1336354545, rs757961321, rs768888196, rs121434601, rs142921504, rs77048718, rs199649688, rs41290646, rs148414587, rs200710310	RCV002276757 RCV002276925 RCV002278792 RCV002278793 RCV002278794 RCV002278795 RCV002278261 RCV002278548 RCV002278549 RCV002278550 RCV002278547 RCV002278546 RCV002278545
Intellectual disability	Conflicting classifications of pathogenicity	rs387907460	RCV005625255
Lymphoma	Conflicting classifications of pathogenicity	rs140651831	RCV005910845
Metaphyseal chondrodysplasia	Benign; Conflicting classifications of pathogenicity	rs142021243, rs754628395	RCV000268644 RCV000276202
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs140651831	RCV005910844
PTH1R-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs112382430, rs1683106396, rs1345258655, rs749389822, rs1268612279, rs141466964, rs754628395, rs199740724, rs2545040361, rs771579145	RCV003908871 RCV003407909 RCV003416525 RCV003973326 RCV003405839 RCV003932398 RCV003922513 RCV004745354 RCV003896937 RCV004746254
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs769883740	RCV005931548
Uterine carcinosarcoma	Benign	rs724450	RCV005919621

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
ACTH Secreting Pituitary Adenoma	Associate	35960046
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis	Associate	37840415
Bone Diseases	Associate	11012879, 25354236
Breast Neoplasms	Associate	10606734, 7599071, 9376272
Calcinosis Cutis	Associate	9376272
Cartilage Diseases	Associate	19723327
Chondrodysplasia blomstrand type	Associate	19061984, 24058597, 37840415, 9649554
Chondroma	Associate	37840415
Chondrosarcoma	Stimulate	15685701
Chronic Kidney Disease Mineral and Bone Disorder	Associate	29788189
Cognition Disorders	Associate	27415614
Colonic Neoplasms	Associate	34790819
Diabetes Mellitus	Associate	11012879
Diabetic Nephropathies	Associate	28954822
Drug Eruptions	Associate	34897565
Ectodermal Dysplasia	Associate	35203352
Eiken Skeletal Dysplasia	Associate	37840415
Epstein Barr Virus Infections	Stimulate	9657761
Failure of Tooth Eruption Primary	Associate	19061984, 24058597, 24300310, 29376733, 31730001, 34897565, 37480042, 37840415
Femur Head Necrosis	Associate	28393228
Glomerulonephritis Membranous	Associate	34788508
Growth Disorders	Associate	29788189, 37840415
HEM dysplasia	Associate	37840415
Hemolytic Uremic Syndrome	Associate	14871409
Hypercalcemia	Associate	27410178, 29788189, 7797535, 9447281
Hypercalciuria	Associate	29788189
Hyperparathyroidism 2	Associate	11277262
Inflammation	Associate	34977236
Jansen type metaphyseal chondrodysplasia	Associate	27410178, 29788189, 30232230, 37840415, 8703170, 9447281, 9649554
Kidney Failure Chronic	Associate	11012879, 25604159
Laryngeal Neoplasms	Associate	35761298
Leiomyoma	Associate	12201218
Mental Disorders	Associate	17227961
Multiple Myeloma	Associate	23787729
Muscular dystrophy congenital with central nervous system involvement	Associate	27415614
Neoplasms	Associate	15685701, 34728699, 35635031
Nonsyndromic Deafness	Associate	19061984
Open Bite	Associate	34897565
Osteoarthritis	Inhibit	11315999
Osteoarthritis	Associate	24300310
Osteoporosis	Associate	15744035, 34977236, 35203352
Osteosarcoma	Associate	16475708, 30978523, 35635031
Paraganglioma	Associate	35203352
Parathyroid Diseases	Associate	27415614
Pseudohypoparathyroidism	Associate	25843330
Pseudohypoparathyroidism Type 1B	Associate	27415614
Pseudohypoparathyroidism Type 2	Associate	27415614
Short limb dwarfism Al Gazali type	Associate	19061984
Squamous Cell Carcinoma of Head and Neck	Associate	35761298
Stomach Neoplasms	Associate	33316777
Tooth Abnormalities	Associate	37840415
Uremia	Associate	14871409
Urinary Bladder Diseases	Associate	25604159
Urinary Bladder Overactive	Associate	25604159

PTH1R (parathyroid hormone 1 receptor)