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PTH1R (parathyroid hormone 1 receptor)

Identity

Other namesPFE
PTHR
PTHR1
HGNC (Hugo) PTH1R
LocusID (NCBI) 5745
Atlas_Id 50463
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 hg19 (Hinxton)ENSG00000160801 [Gene_View]  chr3:46919236-46945289 [Contig_View]  PTH1R [Vega]
Ensembl hg38 (Hinxton)ENSG00000160801 [Gene_View]  chr3:46919236-46945289 [Contig_View]  PTH1R [Vega]
ICGC DataPortalENSG00000160801
TCGA cBioPortalPTH1R
AceView (NCBI)PTH1R
Genatlas (Paris)PTH1R
WikiGenes5745
SOURCE (Princeton)PTH1R
Genomic and cartography
GoldenPath hg19 (UCSC)PTH1R  -     chr3:46919236-46945289 +  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTH1R  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblPTH1R - 3p21.31 [CytoView hg19]  PTH1R - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIPTH1R [Mapview hg19]  PTH1R [Mapview hg38]
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)NC_000003 NC_018914 NG_008864 NT_022517 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 [ EBI - ARRAY_EXPRESS ]   PTH1R [ SEEK ]   PTH1R [ MEM ]
Gene Expression Viewer (FireBrowse)PTH1R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5745
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03431 (Uniprot)
NextProtQ03431  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03431
Splice isoforms : SwissVarQ03431 (Swissvar)
PhosPhoSitePlusQ03431
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    GPCR_2_extracellular_dom    GPCR_2_parathyroid_rcpt    GPCR_2_secretin-like    GPCR_2_secretin-like_CS   
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)PTH1R
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   
Structural Biology KnowledgeBase1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
SCOP (Structural Classification of Proteins)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
CATH (Classification of proteins structures)1BL1    1ET2    1ET3    3C4M    3H3G    3KJ5    3L2J   
SuperfamilyQ03431
Human Protein AtlasENSG00000160801
Peptide AtlasQ03431
HPRD01347
IPIIPI00010732   IPI00169244   IPI00927303   IPI00791285   IPI00925949   
Protein Interaction databases
DIP (DOE-UCLA)Q03431
IntAct (EBI)Q03431
FunCoupENSG00000160801
BioGRIDPTH1R
STRING (EMBL)PTH1R
ZODIACPTH1R
Ontologies - Pathways
QuickGOQ03431
Ontology : AmiGOskeletal system development  chondrocyte differentiation  osteoblast development  parathyroid hormone receptor activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  integral component of plasma membrane  cell surface 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  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 exosome  
Ontology : EGO-EBIskeletal system development  chondrocyte differentiation  osteoblast development  parathyroid hormone receptor activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  integral component of plasma membrane  cell surface 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  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 exosome  
Pathways : KEGGNeuroactive ligand-receptor interaction    Endocrine and other factor-regulated calcium reabsorption   
NDEx Network
Atlas of Cancer Signalling NetworkPTH1R
Wikipedia pathwaysPTH1R
Orthology - Evolution
OrthoDB5745
GeneTree (enSembl)ENSG00000160801
Phylogenetic Trees/Animal Genes : TreeFamPTH1R
Homologs : HomoloGenePTH1R
Homology/Alignments : Family Browser (UCSC)PTH1R
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPTH1R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTH1R
dbVarPTH1R
ClinVarPTH1R
1000_GenomesPTH1R 
Exome Variant ServerPTH1R
ExAC (Exome Aggregation Consortium)PTH1R (select the gene name)
SNP (GeneSNP Utah)PTH1R
SNP : HGBasePTH1R
Genetic variants : HAPMAPPTH1R
Genomic Variants (DGV)PTH1R [DGVbeta]
Mutations
ICGC Data PortalPTH1R 
TCGA Data PortalPTH1R 
Broad Tumor PortalPTH1R
OASIS PortalPTH1R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTH1R 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTH1R
DgiDB (Drug Gene Interaction Database)PTH1R
DoCM (Curated mutations)PTH1R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTH1R (select a term)
intoGenPTH1R
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:46919236-46945289
CONAN: Copy Number AnalysisPTH1R 
Mutations and Diseases : HGMDPTH1R
OMIM125350    156400    168468    215045    600002   
MedgenPTH1R
Genetic Testing Registry PTH1R
NextProtQ03431 [Medical]
TSGene5745
GENETestsPTH1R
Huge Navigator PTH1R [HugePedia]  PTH1R [HugeCancerGEM]
snp3D : Map Gene to Disease5745
BioCentury BCIQPTH1R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5745
Chemical/Pharm GKB GenePA33953
Clinical trialPTH1R
Miscellaneous
canSAR (ICR)PTH1R (select the gene name)
Probes
Litterature
PubMed135 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTH1R
GoPubMedPTH1R
iHOPPTH1R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 18:00:48 CEST 2016

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