InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTH1R

Summary

InnateDB Protein

IDBP-374819.4

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

ENSP00000402723

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.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004930	G-protein coupled receptor activity
GO:0004991	parathyroid hormone receptor activity
GO:0005515	protein binding
GO:0017046	peptide hormone binding
GO:0043621	protein self-association

Biological Process

GO:0001501	skeletal system development
GO:0007166	cell surface receptor signaling pathway
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0060732	positive regulation of inositol phosphate biosynthetic process

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0043235	receptor complex
GO:0070062	extracellular vesicular exosome

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

PFAM

PF00002
PF02793

PRINTS

PR00249
PR00393

PIRSF

SMART

SM00008

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt