PTH1R Gene
protein-coding GIFtS : 65
GCID: GC03 P046895
parathyroid hormone 1 receptor (Previous name: parathyroid hormone receptor 1 ) (Previous symbols: PTHR, PTHR1 )
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Aliasesfor PTH1R gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Parathyroid Hormone 1 Receptor 1 2 3 PTH1 Receptor2 3 PTHR1 2 3 5 PFE2 5 PTHR11 2 3 5 Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor2 Parathyroid Hormone Receptor 11 2 Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptor2 PTH/PTHr Receptor2 3 Seven Transmembrane Helix Receptor2 PTH/PTHrP Type I Receptor2 3
Export aliases for PTH1R gene to outside databases
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Summariesfor PTH1R gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for PTH1R : 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) UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431 Function : This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of thisreceptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system Gene Wiki entry for PTH1R (Parathyroid hormone 1 receptor)
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Genomic Viewsfor PTH1R gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NC_018914.1 NT_022517.18 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PTH1R gene promoter: CREB PPAR-gamma1 p53 deltaCREB PPAR-gamma2 Other transcription factors Search SABiosciences Chromatin IP Primers for PTH1R Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat PTH1R
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3p22-p21.1 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p22-p21.1 PTH1R Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P046895: view genomic region
(about GC identifiers )
Start:
46,919,236 bp from pter
End:
46,945,289 bp from pter
Size:
26,054 bases
Orientation:
plus strand
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Proteinsfor PTH1R gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431 (See
protein sequence )Recommended Name: Parathyroid hormone/parathyroid hormone-related peptide receptor precursor Size : 593 amino acids; 66361 Da
Subunit : Interacts (via N-terminal extracellular domain) with PTHLH and PTH. Homodimer in the absence of bound ligand.Peptide hormone binding leads to dissociation of the homodimer. Interacts (via C-terminus) with the heterodimer formed by GNG2 and GNB1
Subcellular location : Cell membrane; Multi-pass membrane protein
6/7 PDB 3D structures from and Proteopedia for PTH1R (see all 7 ):1BL1 (3D)
  1ET2 (3D)
  1ET3 (3D)
  3C4M (3D)
  3H3G (3D)
  3KJ5 (3D)
 
Secondary accessions : Q2M1U3Explore the universe of human proteins at neXtProt for PTH1R: NX_Q03431 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q03431 PTH1R Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts):
NP_000307.1 NP_001171673.1 ENSEMBL proteins: ENSP00000402723 ENSP00000411424 ENSP00000400977 ENSP00000321999 ENSP00000389811 ENSP00000396176 ENSP00000413774 Reactome Protein details: Q03431 Human Recombinant Protein Products for PTH1R: Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11 ): About this table
PTH1R for ontologies About GeneDecksing PTH1R Antibody Products: Assay Products for PTH1R:
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Protein
Domains / Familiesfor PTH1R gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
PTH1R for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q03431 ProtoNet protein and cluster: Q03431
2 Blocks protein families : IPB000832 G-protein coupled receptors family 2 (secretin-like) IPB002170 Parathyroid hormone receptor signature UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431 Similarity : Belongs to the G-protein coupled receptor 2 family
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Functionfor PTH1R gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: PTH1R_HUMAN, Q03431 Function : This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of thisreceptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
PTH1R for ontologies About GeneDecksing Phenotypes: 9 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Pth1r) :
PTH1R for phenotypes About GeneDecksing Animal Models: Mouse knock-outs for PTH1R: Pth1r tm4Hmk Pth1r tm3Hmk Pth1r tm1Abas Pth1r tm1Hmk Clone Products: EMD Millipore Clones for the Expression of PTH1R OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): PTH1R (NM_000316 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTH1R Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTH1R
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH1R
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Pathways & Interactionsfor PTH1R gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/9 super-pathways (see all 9 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Signaling by GPCR 2 Transcription_Role of VDR in regulation of genes involved in osteoporosis 3 Development_Hedgehog and PTH signaling pathways in bone and cartilage development 4 Class A/1 (Rhodopsin-like receptors) 5 G beta:gamma signalling through PLC beta
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for PTH1R 2 GeneGo (Thomson Reuters) Pathways for PTH1R 3 BioSystems Pathways for PTH1R 5/6
Reactome Pathways for PTH1R (see all 6 )2
Kegg Pathways (Kegg details for PTH1R) :
PTH1R for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTH1R STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/72 Interacting proteins for PTH1R (Q03431 2 , 3 ENSP00000321999 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 72 )About this table Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18 ): About this table
PTH1R for ontologies About GeneDecksing
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Drugs & Compoundsfor PTH1R gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
PTH1R for compounds About GeneDecksing Compounds for PTH1R available from Tocris Bioscience About this table 1 HMDB Compound for PTH1R About this table 2 DrugBank Compounds for PTH1R About this table 10/33 Novoseek chemical compound relationships for PTH1R gene (see all 33 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
adenylate
63.2
18
7664669 (2), 1664643 (2), 8275550 (1), 18450967 (1) (see all 16 )
forskolin
61.7
5
9572838 (2), 8106573 (1), 12372804 (1), 7664644 (1)
calcium
60.6
43
7550580 (1), 11479139 (1), 16369896 (1), 7599930 (1) (see all 31 )
cyclic amp
56
13
1718728 (3), 17264878 (2), 7550580 (1), 9011748 (1) (see all 7 )
calcitriol
53
6
8807573 (2), 15728789 (1), 10912535 (1), 8229062 (1)
vitamin d
52.9
7
14562992 (1), 16261459 (1), 10620056 (1), 15157284 (1) (see all 6 )
ribonucleic acid
44.7
3
7573236 (1), 7883858 (1), 8675577 (1)
benzophenone
42.6
3
7654710 (1), 10461746 (1)
bisindolylmaleimide
34.4
2
12210735 (1), 7664644 (1)
1,25 dihydroxy vitamin d3
33.5
1
15157284 (1)
Search CenterWatch for drugs/clinical trials and news about PTH1R
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Transcriptsfor PTH1R gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for PTH1R gene (2 alternative transcripts): NM_000316.2 NM_001184744.1 Unigene Cluster for PTH1R:
Parathyroid hormone 1 receptor Hs.1019 [show with all ESTs ] Unigene Representative Sequence: U17418 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000449590 (uc003cqm.3 ) ENST00000418619 (uc021wxg.1 ) ENST00000427125 ENST00000313049 ENST00000428220 ENST00000490109 ENST00000422115 ENST00000430002 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): PTH1R (NM_000316 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTH1R Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTH1R
Additional cDNA sequence: AY449732.1 BC110388.1 BC112221.1 BC112247.1 L04308.1 U17418.1 X68596.1
8 DOTS entries : DT.213440 DT.95079752
DT.100733251 DT.120876919 DT.95263621 DT.95126099 DT.100023926 DT.75101750 24/70 AceView cDNA sequences (see all 70 ):
BQ023127 CR595263 CA412652 BQ028831 BQ025985 BQ023754 BQ772345 BF526518 CA389051 AY449732 NM_000316 BX119179 BC031578 X68596 AA357377 BQ772116 BQ185264 U17418 AF495723 CA447251 BI755699 BM972131 BI765699 BG828526 GeneLoc Exon Structure
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Expression for PTH1R gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section PTH1R expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGACCAGGCGAbout this image PTH1R expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
10/43 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 43 ) Tissue Anatomical Compartment
Cell Category (developmental path) Bone Caudal Endochondral Bones Endochondral Osteoblasts Bone Bone Caudal Endochondral Bones Endochondral Preosteoblasts Bone Bone Caudal Endochondral Bones Hypertrophic Chondrocytes Bone, Cartilage Bone Caudal Endochondral Bones Prehypertrophic Chondrocytes Bone, Cartilage Bone Endochondral Facial Bones Endochondral Osteoblasts Bone Bone Endochondral Facial Bones Endochondral Preosteoblasts Bone Bone Endochondral Facial Bones Hypertrophic Chondrocytes Bone, Cartilage Bone Endochondral Facial Bones Prehypertrophic Chondrocytes Bone, Cartilage Bone Membranous Facial Bones Intramembranous Osteoblasts Bone Bone Membranous Facial Bones Intramembranous Preosteoblasts Bone Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 10/21 LifeMap Cells (see all 21 ) Name Category PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ progenitor SK17 (Embryonic Progenitor Cell)PureStem™ progenitor W10 (Embryonic Progenitor Cell)Connective tissue progenitor cells (Generation of connec... )Extraembryonic endoderm-like cells (Generation of extrae... )HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in... )Bone, Cartilage HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio... )Bone, Cartilage
See PTH1R Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PTH1R SOURCE GeneReport for Unigene cluster: Hs.1019 UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431 Tissue specificity : Expressed in most tissues. Most abundant in kidney, bone and liver SABiosciences Expression via Pathway-Focused PCR Arrays including PTH1R : G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat G Protein Coupled Receptors 384HT in human mouse rat
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for PTH1RBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat PTH1R QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat PTH1R QIAGEN QuantiFast Probe-based Assays in human , mouse , rat PTH1R In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH1R
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Orthologsfor PTH1R gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for PTH1R gene from 4/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for PTH1R (if available)TreeFam Gene Tree for PTH1R (if available)
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Paralogsfor PTH1R gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for PTH1R gene GLP1R 2 GHRHR 2 GCGR 2 CALCR 2 CRHR2 2 VIPR1 2 CRHR1 2 PTH2R 2 CALCRL 2 ADCYAP1R1 2 SCTR 2 GLP2R 2 VIPR2 2 GIPR 2 14 SIMAP similar genes for PTH1R using alignment to 5 protein entries: PTH1R_HUMAN (see all proteins ):PTH2R PTHR2 GLP2R VIPR2 SCTR GCGR VIPR1 GHRHR GLP1R GIPR CALCRL CRHR2 CALCR ADCYAP1R1
PTH1R for paralogs About GeneDecksing
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Genomic Variantsfor PTH1R gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for PTH1R (46919236 - 46945289 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for PTH1R 1 CNV : 3428 Human Gene Mutation Database (HGMD) : PTH1R SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing PTH1R
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Disorders
/ Diseasesfor PTH1R gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
PTH1R for disorders About GeneDecksing OMIM gene information: 168468 OMIM disorders : 156400 215045 600002 125350 UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431
Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]. JMC is a rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD) [MIM:215045]. BOCD is a severe skeletal dysplasia Defects in PTH1R may be a cause of enchondromatosis multiple (ENCHOM) [MIM:166000]. Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma Defects in PTH1R are the cause of Eiken skeletal dysplasia (EISD) [MIM:600002]; also known as bone modeling defect of hands and feet. It is a rare familial autosomal recessive skeletal dysplasia. It is characterized by multiple epiphyseal dysplasia, with extremely 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 Defects in PTH1R are a cause of primary failure of tooth eruption (PFE) [MIM:125350]. PFE is a 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 20/68 diseases for PTH1R (see all 68 ): About MalaCards jansen's metaphyseal chondrodysplasia chondrodysplasia blomstrand type metaphyseal chondrodysplasia ossification of posterior longitudinal ligament of spine chondrodysplasia pseudohypoparathyroidism type ib failure of tooth eruption, primary osteogenesis imperfecta thanatophoric dysplasia oncogenic osteomalacia epiphyseal dysplasia pseudohypoparathyroidism multiple epiphyseal dysplasia humoral hypercalcemia of malignancy ollier disease eiken syndrome osteomalacia osteochondrodysplasia metaphyseal dysplasia achondroplasia 4 diseases from the University of Copenhagen DISEASES database for PTH1R :Heart cancer Hypercalcemia Osteoporosis Metaphyseal dysplasia 10/35 Novoseek disease relationships for PTH1R gene (see all 35 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
pseudohypoparathyroidism, type ib
84.3
8
8823526 (2), 7883858 (1), 8675577 (1), 9723884 (1) (see all 6 )
hypercalcemia
78.2
13
8855805 (2), 9213256 (1), 8579896 (1), 7797535 (1) (see all 11 )
pseudohypoparathyroidism
71.4
2
11857923 (2)
olliers disease
66.5
17
18559376 (5), 15523647 (4), 11850620 (2), 15525660 (1) (see all 5 )
osteosarcoma
65.2
15
17410535 (3), 8020952 (2), 20156969 (1), 11250917 (1) (see all 10 )
dwarfism
63.8
6
8579896 (1), 9832466 (1), 11297619 (1), 19061984 (1)
osteoporosis
54.8
8
18248821 (1), 15744035 (1), 11397646 (1), 11182376 (1) (see all 5 )
skeletal dysplasia
51.3
4
16274647 (1), 15525660 (1), 8855805 (1), 9391087 (1)
osteochondrodysplasias
50.2
3
19061984 (1)
bone diseases
49.9
3
10633457 (1), 9263684 (1)
Human Genome Epidemiology (HuGE) Navigator: PTH1R (0 documents) Export disorders for PTH1R gene to outside databases
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Publicationsfor PTH1R gene (in
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Associations of this gene to articles via
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About This Section PubMed articles for PTH1R gene, integrated from 9 sources (see all 374 ): (articles sorted by number of sources associating them with PTH1R) Utopia : connect your pdf to the dynamic world of online information
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (PubMed id 15523647) 1 , 2 , 9 Rozeman L.B.... Bovee J.V.M.G. (2004) Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes. (PubMed id 8020952) 1 , 3, 9 Pausova Z....Szpirer C. (1994) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. (PubMed id 19061984) 1 , 2 , 9 Decker E....Weber B.H. (2008) Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. (PubMed id 9178745) 1 , 2 , 9 Schipani E....Jueppner H. (1997) The N-terminal fragment of human parathyroid hormone receptor 1 constitutes a hormone binding domain and reveals a distinct disulfide pattern. (PubMed id 10913300) 1 , 2 , 9 Grauschopf U.... Rudolph R. (2000) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. (PubMed id 9745456) 1 , 2 , 9 Zhang P.... Silve C. (1998) A mutant PTH/PTHrP type I receptor in enchondromatosis. (PubMed id 11850620) 1 , 2 , 9 Hopyan S.... Alman B.A. (2002) Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. (PubMed id 8386612) 1 , 2 , 9 Schipani E.... Jueppner H. (1993) Structural basis for parathyroid hormone-related prot ein binding to the parathyroid hormone receptor and design of conformation-sele ctive peptides. (PubMed id 19674967) 1 , 2 , 9 Pioszak A.A....Xu H.E. (2009) Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (PubMed id 8703170) 1 , 2 , 9 Schipani E.... Jueppner H. (1996)
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PharmGKB entry for PTH1R Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTH1R
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About This Section Patent Information for PTH1R gene: Search GeneIP for patents involving PTH1R GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor PTH1R gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for PTH1R OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for PTH1R OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for PTH1R OriGene Protein Over-expression Lysate for PTH1R Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for PTH1R Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for PTH1R Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH1R
ThermoFisher Antibody for PTH1R
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTH1R
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