PTH1R

PTH1R
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1BL1, 3C4M, 3H3G, 3L2J, 4Z8J
Dynodwyr
Cyfenwau	PTH1R, PFE, PTHR, PTHR1, Parathyroid hormone 1 receptor, EKNS
Dynodwyr allanol	OMIM: 168468 HomoloGene: 267 GeneCards: PTH1R
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • G protein-coupled receptor activity • parathyroid hormone receptor activity • signal transducer activity • protein self-association • peptide hormone binding • GO:0001948, GO:0016582 protein binding • transmembrane signaling receptor activity • protein homodimerization activity • G protein-coupled peptide receptor activity Cydrannau o'r gell • cytoplasm • integral component of membrane • bilen • receptor complex • Cellbilen • intracellular anatomical structure • brush border membrane • basolateral plasma membrane • apical plasma membrane • cnewyllyn cell • integral component of plasma membrane Prosesau biolegol • skeletal system development • G protein-coupled receptor signaling pathway • bone mineralization • chondrocyte differentiation • ossification • positive regulation of inositol phosphate biosynthetic process • adenylate cyclase-modulating G protein-coupled receptor signaling pathway • positive regulation of cytosolic calcium ion concentration • G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger • GO:0010260 heneiddio • cellular calcium ion homeostasis • cell maturation • bone resorption • phospholipase C-activating G protein-coupled receptor signaling pathway • cell surface receptor signaling pathway • positive regulation of cell population proliferation • osteoblast development • GO:0072468 signal transduction • negative regulation of cell population proliferation • adenylate cyclase-activating G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5745	n/a
Ensembl	ENSG00000160801	n/a
UniProt	Q03431	n/a
RefSeq (mRNA)	NM_000316 NM_001184744	n/a
RefSeq (protein)	NP_000307 NP_001171673	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PTH1R yw PTH1R a elwir hefyd yn Parathyroid hormone 1 receptor (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 3, band 3p21.31.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PTH1R .

• PFE
• PTHR
• PTHR1

Llyfryddiaeth

• "Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia. ". Odontology. 2017. PMID 27160269.
• "A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family. ". Arch Oral Biol. 2016. PMID 27019138.
• "PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling. ". PLoS One. 2016. PMID 27898723.
• "Identification of key phosphorylation sites in PTH1R that determine arrestin3 binding and fine-tune receptor signaling. ". Biochem J. 2016. PMID 27623777.
• "Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.". J Clin Endocrinol Metab. 2016. PMID 27410178.