• Gene id: 5745

Gene Summary

• Gene Symbol: PTH1R   Gene   UCSC   Ensembl
• Aliases: EKNS, PFE, PTHR, PTHR1
• Gene name: parathyroid hormone 1 receptor
• Alternate names: parathyroid hormone/parathyroid hormone-related peptide receptor, 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,
• Gene location: 3p21.31 (202118668: 202133591)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 168468

SNPs

rs680730

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.117604518C>T
NC_000011.9   g.117475233C>T
NG_051656.1   g.197744G>A|SEQ=[C/T]|GENE=DSCAML1

Protein Summary

• Protein general information: Q03431  
  • Name: Parathyroid hormone/parathyroid hormone related peptide receptor (PTH/PTHrP type I receptor) (PTH/PTHr receptor) (Parathyroid hormone 1 receptor) (PTH1 receptor)
  • Length: 593  
  • Mass: 66361
  • Tissue specificity: Expressed in most tissues. Most abundant in kidney, bone and liver. {ECO
• Sequence:

  MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPASIMESDKGWTSASTS
  GKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDR
  NGSWELVPGHNRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMH
  LFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWIL
  VEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKKWIIQVPILASIVLNF
  ILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYTEVSGTLWQVQMHYEMLFNSF
  QGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPT
  ATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM

• Structural information:
  • Interpro: IPR017981  IPR036445  IPR001879  IPR002170  IPR000832   IPR017983  
  • Prosite: PS00649 PS00650 PS50227 PS50261
  • PDB: 1BL1 1ET2 1ET3 3C4M 3H3G 3L2J 4Z8J 5EMB 6NBF 6NBH 6NBI
  • PDBsum: 1BL1 1ET2 1ET3 3C4M 3H3G 3L2J 4Z8J 5EMB 6NBF 6NBH 6NBI
  • STRING: ENSP00000321999
• Other Databases: GeneCards:  PTH1R  Malacards:  PTH1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0004991	parathyroid hormone receptor activity	IBA	molecular function
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0017046	peptide hormone binding	IDA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0004991	parathyroid hormone receptor activity	IDA	molecular function
GO:0004991	parathyroid hormone receptor activity	IDA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0043621	protein self-association	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0004991	parathyroid hormone receptor activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004991	parathyroid hormone receptor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048469	cell maturation	IEA	biological process
GO:0045453	bone resorption	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0004991	parathyroid hormone receptor activity	IEA	molecular function
GO:0001503	ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0060732	positive regulation of inositol phosphate biosynthetic process	IEA	biological process
GO:0043235	receptor complex	IEA	cellular component
GO:0017046	peptide hormone binding	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IEA	biological process
GO:0004991	parathyroid hormone receptor activity	IEA	molecular function
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IC	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0043235	receptor complex	ISS	cellular component
GO:0060732	positive regulation of inositol phosphate biosynthetic process	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Metaphyseal dysplasias	KEGG:H00479
Eiken dysplasia	KEGG:H00495
Blomstrand syndrome	KEGG:H00508
Primary failure of tooth eruption	KEGG:H00680
Metaphyseal dysplasias	KEGG:H00479
Eiken dysplasia	KEGG:H00495
Blomstrand syndrome	KEGG:H00508
Primary failure of tooth eruption	KEGG:H00680
Primary failure of tooth eruption	PMID:24058597
Osteochondrodysplasia	PMID:8703170
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)