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Identification
HMDB Protein ID HMDBP07958
Secondary Accession Numbers
  • 13669
Name Parathyroid hormone/parathyroid hormone-related peptide receptor
Synonyms
  1. PTH/PTHr receptor
  2. PTH/PTHrP type I receptor
  3. PTH1 receptor
  4. Parathyroid hormone 1 receptor
Gene Name PTH1R
Protein Type Unknown
Biological Properties
General Function Involved in transmembrane receptor activity
Specific Function This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
receptor activity
transmembrane receptor activity
parathyroid hormone receptor activity
molecular transducer activity
signal transducer activity
g-protein coupled receptor activity
Process
signaling
signaling pathway
cell surface receptor linked signaling pathway
g-protein coupled receptor protein signaling pathway
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:3
Locus 3p22-p21.1
SNPs PTH1R
Gene Sequence
>1782 bp
ATGGGGACCGCCCGGATCGCACCCGGCCTGGCGCTCCTGCTCTGCTGCCCCGTGCTCAGC
TCCGCGTACGCGCTGGTGGATGCAGATGACGTCATGACTAAAGAGGAACAGATCTTCCTG
CTGCACCGTGCTCAGGCCCAGTGCGAAAAACGGCTCAAGGAGGTCCTGCAGAGGCCAGCC
AGCATAATGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGGAAGCCCAGGAAA
GATAAGGCATCTGGGAAGCTCTACCCTGAGTCTGAGGAGGACAAGGAGGCACCCACTGGC
AGCAGGTACCGAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTG
GGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCAC
AAAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCAC
AACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAA
CGGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCG
TCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGCGGCTGCACTGCACGCGCAAC
TACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAG
GACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAG
CTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGCGGGC
TGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTG
GTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTAC
CTGTGGGGCTTCACAGTCTTCGGCTGGGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTC
AGTGTCAGAGCTACCCTGGCCAACACCGGGTGCTGGGACTTGAGCTCCGGGAACAAAAAG
TGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGCTCAACTTCATCCTCTTCATCAAT
ATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGG
CAGCAGTACCGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCAC
TACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAG
ATGCACTATGAGATGCTCTTCAACTCCTTCCAGGGATTTTTTGTCGCAATCATATACTGT
TTCTGCAATGGCGAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCA
CTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTG
TCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCC
CGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCA
GGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGAC
GATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGG
CCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGA
Protein Properties
Number of Residues 593
Molecular Weight 66360.0
Theoretical pI 8.05
Pfam Domain Function
Signals
  • 1-26
Transmembrane Regions
  • 189-212
  • 220-239
  • 283-306
  • 321-342
  • 362-382
  • 410-428
  • 441-463
Protein Sequence
>Parathyroid hormone/parathyroid hormone-related peptide receptor
MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPA
SIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPL
GAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETRE
REVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVK
DAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWIL
VEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKK
WIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH
YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLA
LDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKP
GTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q03431
UniProtKB/Swiss-Prot Entry Name PTH1R_HUMAN
PDB IDs
GenBank Gene ID L04308
GeneCard ID PTH1R
GenAtlas ID PTH1R
HGNC ID HGNC:9608
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Schipani E, Karga H, Karaplis AC, Potts JT Jr, Kronenberg HM, Segre GV, Abou-Samra AB, Juppner H: Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology. 1993 May;132(5):2157-65. [PubMed:8386612 ]
  3. Schneider H, Feyen JH, Seuwen K, Movva NR: Cloning and functional expression of a human parathyroid hormone receptor. Eur J Pharmacol. 1993 Jul 15;246(2):149-55. [PubMed:8397094 ]
  4. Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, et al.: Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab. 1995 May;80(5):1611-21. [PubMed:7745008 ]
  5. Grauschopf U, Lilie H, Honold K, Wozny M, Reusch D, Esswein A, Schafer W, Rucknagel KP, Rudolph R: The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern. Biochemistry. 2000 Aug 1;39(30):8878-87. [PubMed:10913300 ]
  6. Pellegrini M, Bisello A, Rosenblatt M, Chorev M, Mierke DF: Binding domain of human parathyroid hormone receptor: from conformation to function. Biochemistry. 1998 Sep 15;37(37):12737-43. [PubMed:9737850 ]
  7. Schipani E, Kruse K, Juppner H: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 1995 Apr 7;268(5207):98-100. [PubMed:7701349 ]
  8. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Juppner H: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 1996 Sep 5;335(10):708-14. [PubMed:8703170 ]
  9. Schipani E, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Juppner H: Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. Mol Endocrinol. 1997 Jun;11(7):851-8. [PubMed:9178745 ]
  10. Zhang P, Jobert AS, Couvineau A, Silve C: A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab. 1998 Sep;83(9):3365-8. [PubMed:9745456 ]
  11. Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Juppner H: A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab. 1999 Sep;84(9):3052-7. [PubMed:10487664 ]
  12. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA: A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet. 2002 Mar;30(3):306-10. Epub 2002 Feb 19. [PubMed:11850620 ]
  13. Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovee JV: Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat. 2004 Dec;24(6):466-73. [PubMed:15523647 ]
  14. Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Juppner H, Gillis D: A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab. 2004 Jul;89(7):3595-600. [PubMed:15240651 ]
  15. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C: Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3. [PubMed:15525660 ]
  16. Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH: PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet. 2008 Dec;83(6):781-6. doi: 10.1016/j.ajhg.2008.11.006. [PubMed:19061984 ]