Homo sapiens Protein: PTH1R | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-374821.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PTH1R | ||||||||||||||||||
Protein Name | parathyroid hormone 1 receptor | ||||||||||||||||||
Synonyms | PFE; PTHR; PTHR1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000413774 | ||||||||||||||||||
InnateDB Gene | IDBG-30933 (PTH1R) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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. {ECO:0000269PubMed:18611381, ECO:0000269PubMed:20172855}. | ||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000269PubMed:20172855}; Multi-pass membrane protein {ECO:0000269PubMed:20172855}. | ||||||||||||||||||
Disease Associations | Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. {ECO:0000269PubMed:10487664, ECO:0000269PubMed:15240651, ECO:0000269PubMed:7701349, ECO:0000269PubMed:8703170}. Note=The disease is caused by mutations affecting the gene represented in this entry.Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. {ECO:0000269PubMed:9745456}. Note=The disease is caused by mutations affecting the gene represented in this entry.Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. {ECO:0000269PubMed:11850620}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. {ECO:0000269PubMed:15525660}. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary failure of tooth eruption (PFE) [MIM:125350]: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. {ECO:0000269PubMed:19061984}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in most tissues. Most abundant in kidney, bone and liver. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000832
GPCR, family 2, secretin-like IPR001879 GPCR, family 2, extracellular hormone receptor domain IPR002170 GPCR, family 2, parathyroid hormone receptor IPR017981 GPCR, family 2-like |
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PFAM |
PF00002
PF02793 |
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PRINTS |
PR00249
PR00393 |
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PIRSF | |||||||||||||||||||
SMART |
SM00008
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q03431 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q03431 | ||||||||||||||||||
TrEMBL | Q71UK6 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 5745 | ||||||||||||||||||
UniGene | Hs.1019 | ||||||||||||||||||
RefSeq | NP_001171673 | ||||||||||||||||||
HUGO | HGNC:9608 | ||||||||||||||||||
OMIM | 168468 | ||||||||||||||||||
CCDS | CCDS2747 | ||||||||||||||||||
HPRD | 01347 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC109583 AF077526 AY449732 BC112221 BC112247 CH471055 L04308 U17418 U22401 U22402 U22403 U22404 U22405 U22406 U22407 U22408 U22409 X68596 | ||||||||||||||||||
GenPept | AAA36525 AAA56774 AAB60657 AAC27643 AAI12222 AAI12248 AAR18076 CAA48589 EAW64793 EAW64794 | ||||||||||||||||||