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GeneQ18030907· pop 7· linked from 560 articles

PTH1R

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Also known as PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS

protein-coding gene in the species Homo sapiens

Gene data

PTH1R

Name: parathyroid hormone 1 receptor
Type: protein-coding
Position: 46,877,721–46,903,799 (+)
Aliases: EKNS, PFE, PTHR, PTHR1
Ensembl: ENSG00000160801
RefSeq RNA: NM_000316.3, NM_001184744.1, XM_011533967.4, XM_011533968.3, XM_017006932.3
RefSeq protein: NP_000307.1, NP_001171673.1, XP_011532269.1, XP_011532270.1, XP_016862421.1

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 which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010].

Gene Ontology

Biological process

skeletal system development intracellular calcium ion homeostasis cell surface receptor signaling pathway G protein-coupled receptor signaling pathway G protein-coupled receptor signaling pathway G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-modulating G protein-coupled receptor signaling pathway adenylate cyclase-activating G protein-coupled receptor signaling pathway

Molecular function

transmembrane signaling receptor activity G protein-coupled receptor activity G protein-coupled receptor activity parathyroid hormone receptor activity parathyroid hormone receptor activity parathyroid hormone receptor activity parathyroid hormone receptor activity protein binding

Cellular component

nucleus cytoplasm plasma membrane plasma membrane plasma membrane plasma membrane plasma membrane membrane

Pathways

Neuroactive ligand-receptor interaction - Homo sapiens (human)Parathyroid hormone synthesis, secretion and action - Homo sapiens (human)Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human)Signal Transduction Signaling by GPCR Class B/2 (Secretin family receptors)GPCR downstream signalling G alpha (s) signalling events GPCR ligand binding Osteoblast Signaling

via MyGene.info

Gene · Ensembl

parathyroid hormone 1 receptor

Symbol: PTH1R
Biotype: Protein coding
Organism: Homo sapiens
Location: 3:46,877,706-46,903,799
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 267
exact match: identifiers.org/ncbigene/5745
genomic end: 46945287
genomic start: 46877721
cytogenetic location: 3p21.31

Sources (4)

via Wikidata · CC0

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via Wikidata sitelinks · CC0

Categories

Genes on human chromosome 3 G protein-coupled receptors