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PTH1R (parathyroid hormone 1 receptor)

Identity

Other namesPFE
PTHR
PTHR1
HGNC (Hugo) PTH1R
LocusID (NCBI) 5745
Location 3p21.31
Location_base_pair Starts at 46919236 and ends at 46945289 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PTH1R   9608
Cards
Entrez_Gene (NCBI)PTH1R  5745  parathyroid hormone 1 receptor
GeneCards (Weizmann)PTH1R
Ensembl (Hinxton)ENSG00000160801 [Gene_View]  chr3:46919236-46945289 [Contig_View]  PTH1R [Vega]
ICGC DataPortalENSG00000160801
cBioPortalPTH1R
AceView (NCBI)PTH1R
Genatlas (Paris)PTH1R
WikiGenes5745
SOURCE (Princeton)NM_000316 NM_001184744
Genomic and cartography
GoldenPath (UCSC)PTH1R  -  3p21.31   chr3:46919236-46945289 +  3p21.31   [Description]    (hg19-Feb_2009)
EnsemblPTH1R - 3p21.31 [CytoView]
Mapping of homologs : NCBIPTH1R [Mapview]
OMIM125350   156400   168468   215045   600002   
Gene and transcription
Genbank (Entrez)AY449732 BC031578 BC110388 BC112221 BC112247
RefSeq transcript (Entrez)NM_000316 NM_001184744
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_008864 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)PTH1R
Cluster EST : UnigeneHs.1019 [ NCBI ]
CGAP (NCI)Hs.1019
Alternative Splicing : Fast-db (Paris)GSHG0020776
Alternative Splicing GalleryENSG00000160801
Gene ExpressionPTH1R [ NCBI-GEO ]     PTH1R [ SEEK ]   PTH1R [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03431 (Uniprot)
NextProtQ03431  [Medical]
With graphics : InterProQ03431
Splice isoforms : SwissVarQ03431 (Swissvar)
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F2_1 (PS00649)    G_PROTEIN_RECEP_F2_2 (PS00650)    G_PROTEIN_RECEP_F2_3 (PS50227)    G_PROTEIN_RECEP_F2_4 (PS50261)   
Domains : Interpro (EBI)GPCR_2-like [organisation]   GPCR_2_extracellular_dom [organisation]   GPCR_2_parathyroid_rcpt [organisation]   GPCR_2_secretin-like [organisation]   GPCR_2_secretin-like_CS [organisation]  
Related proteins : CluSTrQ03431
Domain families : Pfam (Sanger)7tm_2 (PF00002)    HRM (PF02793)   
Domain families : Pfam (NCBI)pfam00002    pfam02793   
Domain families : Smart (EMBL)HormR (SM00008)  
DMDM Disease mutations5745
Blocks (Seattle)Q03431
PDB (SRS)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
PDB (PDBSum)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
PDB (IMB)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
PDB (RSDB)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
Human Protein AtlasENSG00000160801 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ03431
HPRD01347
IPIIPI00010732   IPI00169244   IPI00927303   IPI00791285   IPI00925949   
Protein Interaction databases
DIP (DOE-UCLA)Q03431
IntAct (EBI)Q03431
FunCoupENSG00000160801
BioGRIDPTH1R
InParanoidQ03431
Interologous Interaction database Q03431
IntegromeDBPTH1R
STRING (EMBL)PTH1R
Ontologies - Pathways
Ontology : AmiGOskeletal system development  chondrocyte differentiation  osteoblast development  parathyroid hormone receptor activity  protein binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  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  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  aging  positive regulation of cell proliferation  negative regulation of cell proliferation  basolateral plasma membrane  apical plasma membrane  peptide hormone binding  bone mineralization  brush border membrane  receptor complex  protein self-association  bone resorption  cell maturation  positive regulation of inositol phosphate biosynthetic process  extracellular vesicular exosome  
Ontology : EGO-EBIskeletal system development  chondrocyte differentiation  osteoblast development  parathyroid hormone receptor activity  protein binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  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  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  aging  positive regulation of cell proliferation  negative regulation of cell proliferation  basolateral plasma membrane  apical plasma membrane  peptide hormone binding  bone mineralization  brush border membrane  receptor complex  protein self-association  bone resorption  cell maturation  positive regulation of inositol phosphate biosynthetic process  extracellular vesicular exosome  
Pathways : KEGGNeuroactive ligand-receptor interaction    Endocrine and other factor-regulated calcium reabsorption   
Protein Interaction DatabasePTH1R
Wikipedia pathwaysPTH1R
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PTH1R
snp3D : Map Gene to Disease5745
SNP (GeneSNP Utah)PTH1R
SNP : HGBasePTH1R
Genetic variants : HAPMAPPTH1R
Exome VariantPTH1R
1000_GenomesPTH1R 
ICGC programENSG00000160801 
Somatic Mutations in Cancer : COSMICPTH1R 
CONAN: Copy Number AnalysisPTH1R 
Mutations and Diseases : HGMDPTH1R
Genomic VariantsPTH1R  PTH1R [DGVbeta]
dbVarPTH1R
ClinVarPTH1R
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM125350    156400    168468    215045    600002   
MedgenPTH1R
GENETestsPTH1R
Disease Genetic AssociationPTH1R
Huge Navigator PTH1R [HugePedia]  PTH1R [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePTH1R
Homology/Alignments : Family Browser (UCSC)PTH1R
Phylogenetic Trees/Animal Genes : TreeFamPTH1R
Chemical/Protein Interactions : CTD5745
Chemical/Pharm GKB GenePA33953
Clinical trialPTH1R
Cancer Resource (Charite)ENSG00000160801
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMinePTH1R
iHOPPTH1R
OncoSearchPTH1R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:11:40 CEST 2014

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