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PTH1R Gene

protein-coding   GIFtS: 66
GCID: GC03P046919

Parathyroid Hormone 1 Receptor

(Previous name: parathyroid hormone receptor 1)
(Previous symbols: PTHR, PTHR1)
  See PTH1R-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Parathyroid Hormone 1 Receptor1 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     

External Ids:    HGNC: 96081   Entrez Gene: 57452   Ensembl: ENSG000001608017   OMIM: 1684685   UniProtKB: Q034313   

Export aliases for PTH1R gene to outside databases

Previous GC identifer: GC03P046895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTH1R Gene:
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)

GeneCards Summary for PTH1R Gene:
PTH1R (parathyroid hormone 1 receptor) is a protein-coding gene. Diseases associated with PTH1R include jansen's metaphyseal chondrodysplasia, and tooth ankylosis. GO annotations related to this gene include protein self-association and parathyroid hormone receptor activity. An important paralog of this gene is GLP1R.

UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431
Function: This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of
this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium
second messenger system

summary for PTH1R Gene:
Parathyroid hormone (PTH) receptors are a group of Gs-protein-coupled receptors, currently divided into two
subtypes; PTH1 and PTH2. Each subtype has a distinct distribution and mediates different biological actions.
PTH1 is ubiquitously expressed, but is found at particularly high levels in skeletal muscle and the kidneys.
PTH1 is involved in calcium and phosphate homeostasis and has a role in chondrocyte regulation. PTH2
expression is limited to the brain and testes. Its actions are proposed to include nociception and
regulation of pituitary hormone secretion. The human genes encoding the PTH1 and PTH2 receptors are located
on chromosomes 3p22-21.1 and 2q33 respectively.

Gene Wiki entry for PTH1R (Parathyroid hormone 1 receptor) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTH1R gene promoter:
         CREB   PPAR-gamma1   p53   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTH1R promoter sequence
   Search Chromatin IP Primers for PTH1R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)
PTH1R gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P046919:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Selected 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: Q2M1U3

Explore the universe of human proteins at neXtProt for PTH1R: NX_Q03431

Explore proteomics data for PTH1R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn151, Asn161, Asn166, Asn176
  • Modification sites at PhosphoSitePlus

  • See PTH1R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000307.1  NP_001171673.1  

    ENSEMBL proteins: 
     ENSP00000402723   ENSP00000411424   ENSP00000400977   ENSP00000321999   ENSP00000389811  
     ENSP00000396176   ENSP00000413774  
    Reactome Protein details: Q03431

    PTH1R Human Recombinant Protein Products:

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    Novus Biologicals PTH1R Lysate
    Sino Biological Recombinant Protein for PTH1R
    Sino Biological Cell Lysate for PTH1R
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    Browse Proteins at Cloud-Clone Corp.

     
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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for PTH1R 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTHNR: GPCR / Class B : Parathyroid hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: PTH1 receptor
    Parathyroid hormone receptors

    5 InterPro protein domains:
     IPR002170 GPCR_2_parathyroid_rcpt
     IPR001879 GPCR_2_extracellular_dom
     IPR000832 GPCR_2_secretin-like
     IPR017983 GPCR_2_secretin-like_CS
     IPR017981 GPCR_2-like

    Graphical View of Domain Structure for InterPro Entry Q03431

    ProtoNet protein and cluster: Q03431

    2 Blocks protein domains:
    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


    Find genes that share domains with PTH1R           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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
    this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium
    second messenger system

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity ----
    GO:0004991parathyroid hormone receptor activity IDA19674967
    GO:0005515protein binding IPI--
    GO:0017046peptide hormone binding IDA19674967
         
    Find genes that share ontologies with PTH1R           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pth1r):
     craniofacial  digestive/alimentary  embryogenesis  growth/size/body  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  respiratory system  skeleton 

    Find genes that share phenotypes with PTH1R           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PTH1R: Pth1rtm4Hmk Pth1rtm3Hmk Pth1rtm1Abas Pth1rtm1Hmk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTH1R
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PTH1R

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTH1R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTH1R

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate PTH1R:
    hsa-miR-125a-5p hsa-miR-125b hsa-miR-133a hsa-miR-133b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidPTH1R 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PTH1R
    Predesigned siRNA for gene silencing in human, mouse, rat PTH1R

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for PTH1R (see all 10)
    OriGene ORF clones in mouse, rat for PTH1R
    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)
    Sino Biological Human cDNA Clone for PTH1R
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTH1R
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTH1R

    Cell Line
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    GenScript PTH1R-overexpressing Cell Line for Assay
    ESI BIO PureStem Progenitors for PTH1R: 
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    PureStem SM30, NCr-fac & Meso-latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH1R


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTH1R_HUMAN, Q03431: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA19674967

    Find genes that share ontologies with PTH1R           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PTH1R About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3ADP signalling through P2Y purinoceptor 12
    Class B/2 (Secretin family receptors)0.36
    4Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis
    5Osteoblast Signaling
    Osteoblast Signaling


    Find genes that share SuperPaths with PTH1R           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for PTH1R
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    3 BioSystems Pathways for PTH1R
        GPCRs, Class B Secretin-like
    Endochondral Ossification
    Osteoblast Signaling


    2 Reactome Pathways for PTH1R
        G alpha (s) signalling events
    Class B/2 (Secretin family receptors)


    2 Kegg Pathways  (Kegg details for PTH1R):
        Neuroactive ligand-receptor interaction
    Endocrine and other factor-regulated calcium reabsorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTH1R: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTH1R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PTH1R (Q034311, 2, 3 ENSP000003219994) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM2P621582, 3MINT-51633 MINT-51634 I2D: score=1 
    CALM3P621582, 3MINT-51633 MINT-51634 I2D: score=1 
    CALM1P621582, 3, ENSP000003494674MINT-51633 MINT-51634 I2D: score=1 STRING: ENSP00000349467
    YWHAHQ049172, 3, ENSP000002489754MINT-15642 MINT-15641 MINT-5207093 I2D: score=2 STRING: ENSP00000248975
    PTHP012703, ENSP000002820914I2D: score=2 STRING: ENSP00000282091
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9745456
    GO:0001503ossification ----
    GO:0002062chondrocyte differentiation IEA--
    GO:0002076osteoblast development IEA--
    GO:0006874cellular calcium ion homeostasis ----

    Find genes that share ontologies with PTH1R           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for PTH1R available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Parathyroid hormone (1-34) (human)Parathyroid hormone (PTH) receptor agonist[52232-67-4]

    1 HMDB Compound for PTH1R    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for PTH1R    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PreotacthPTH (see all 10)68893-82-3targetactivator10837469
    TeriparatidehPTH 1-34 (see all 5)52232-67-4targetbinder11752352

    Selected IUPHAR Ligands for PTH1R (PTH1 receptor) (see all 30)    About this table
    LigandTypeActionAffinityPubmed IDs
    [Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-34)-NH2
    AgonistFull agonist8.718946036
    [Ala1,12,Aib3,Gln10,hArg11,Trp14,Arg19]PTH-(1-28)-NH2 (human)
    AgonistFull agonist8.618946036
    [Tyr34]PTH-(1-34) (human)
    AgonistFull agonist8.1 - 8.511159842
    TIP39-(7-39) (human/bovine)
    AntagonistAntagonist8.211046116
    PTHrP-(1-20)/TIP-(23-39) (human)
    AgonistFull agonist7.5 - 811159842
    [125I][Nle8,21,Tyr34]PTH-(1-34)-NH2 (rat)
    AgonistFull agonist89360953
    [Ile5,Trp23]PTHrP-(1-36) (human)
    AgonistFull agonist7.4 - 7.88702701 10537121
    [Ile5,Trp23]PTHrP-(3-36) (human)
    AgonistFull agonist7.810537121
    PTHrP-(1-21)/PTH-(22-34) (human)
    AgonistFull agonist7.78702701
    [Ile5,Trp23]PTHrP-(2-36) (human)
    AgonistFull agonist7.610537121

    Selected Novoseek inferred 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)



    Find genes that share compounds with PTH1R           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate PTH1R:
    hsa-miR-125a-5p hsa-miR-125b hsa-miR-133a hsa-miR-133b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidPTH1R 3' UTR sequence
    Inhib. RNA
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    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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTH1R
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PTH1R
      QuantiFast Probe-based Assays in human, mouse, rat PTH1R

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 70):

    X68596 BQ023127 AA357377 AY449732 BQ025985 BQ028831 BQ023754 BX119179 
    CA412652 BQ772345 CR595263 BF526518 NM_000316 CA389051 BC031578 BG828526 
    BM972131 BU742975 AA312910 AI871512 BI772075 AI933214 AF495723 CA414821 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PTH1R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCAGGCG
    PTH1R Expression
    About this image


    PTH1R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 50 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Mandibular Condyle
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 33 entries
             Polymorphic Cells Temporomandibular Joint
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Parietal Endoderm Cells Hypoblast
             Extraembryonic Endoderm
     
     Surface Ectoderm (Integumentary System)    fully expand to see all 2 entries
             Surface Ectoderm Cells Surface Ectoderm
             Surface Ectoderm
    PTH1R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTH1R Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTH1R: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PTH1R gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pth1r1 , 5 parathyroid hormone 1 receptor1, 5 86.8(n)1
    90.52(a)1
      9 (60.56 cM)5
    192281  NM_001083935.11  NP_001077404.11 
     1107220885 
    chicken
    (Gallus gallus)
    Aves PTH1R1 parathyroid hormone 1 receptor 71.44(n)
    77.32(a)
      420401  NM_001177575.1  NP_001171046.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTH1R6
    parathyroid hormone 1 receptor
    71(a)
    1 ↔ 1
    GL343687.1(174417-229531)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004920201 parathyroid hormone/parathyroid hormone-related peptide more 69.58(n)
    74(a)
      100492020  XM_002939365.2  XP_002939411.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pthr12 parathyroid hormone receptor 1 77.18(n)   30629  AF132084.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dh44-R16
    Dh44-R26
    Diuretic hormone 44 receptor 2
    29(a)
    27(a)
    many ↔ many
    many ↔ many
    2R(10265630-10272864)
    2R(8361949-8375491)


    ENSEMBL Gene Tree for PTH1R (if available)
    TreeFam Gene Tree for PTH1R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTH1R gene
    GLP1R2  GHRHR2  GCGR2  CALCR2  CRHR22  VIPR12  CRHR12  PTH2R2  
    CALCRL2  SCTR2  ADCYAP1R12  GLP2R2  VIPR22  GIPR2  
    14 SIMAP similar genes for PTH1R using alignment to 5 protein entries:     PTH1R_HUMAN (see all proteins):
    PTH2R    PTHR2    GLP2R    VIPR2    SCTR    GCGR
    GHRHR    GLP1R    VIPR1    GIPR    CALCRL    CRHR2
    CALCR    ADCYAP1R1

    Find genes that share paralogs with PTH1R           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTH1R (see all 647)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160624
    Chondrodysplasia Blomstrand type (BOCD)4--see VAR_0160622 P L mis40--------
    VAR_0388114
    Jansen metaphyseal chondrodysplasia (JMC)4--see VAR_0388112 T R mis40--------
    VAR_0035834
    Jansen metaphyseal chondrodysplasia (JMC)4--see VAR_0035832 T P mis40--------
    VAR_0160644
    Jansen metaphyseal chondrodysplasia (JMC)4--see VAR_0160642 I R mis40--------
    VAR_0035824
    Jansen metaphyseal chondrodysplasia (JMC)4--see VAR_0035822 H R mis40--------
    rs1214346011,2,,4
    C,Funtested185552648(+) GTGACC/TGCAAT 4 R C mis12Minor allele frequency- T:0.00NA EU 5809
    rs1865678651,2
    --46920463(+) ACTGAC/TTCTGA 1 -- int10--------
    rs106620381,2
    C--46922265(+) GCAGC-/AGAAGAAG 1 -- cds10--------
    rs344408931,2
    C--46922266(+) CAGCA-/AG    
       A
    /GAA
    GAAGA
    4 -- cds11NA 2
    rs111301071,2
    C--46928729(+) AAAAA-/ATTAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for PTH1R (46919236 - 46945289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PTH1R:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508915CNV Insertion20534489
    dgv5130n71CNV Loss21882294
    nsv876755CNV Loss21882294
    nsv428417CNV Loss18775914
    nsv460526CNV Loss19166990
    nsv876754CNV Gain21882294
    essv8614CNV CNV17122850
    dgv1455e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PTH1R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTH1R
    DNA2.0 Custom Variant and Variant Library Synthesis for PTH1R

    (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.)
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    OMIM gene information: 168468   
    OMIM disorders: 156400  215045  600002  125350  
    UniProtKB/Swiss-Prot: PTH1R_HUMAN, Q03431
  • Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by
    a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two
    parathyroid hormones. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of
    enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the
    substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the
    potential for malignant change to osteosarcoma. Note=The disease may be caused by mutations affecting the gene
    represented in this entry
  • Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely
    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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Primary failure of tooth eruption (PFE) [MIM:125350]: 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 17 diseases for PTH1R:    
    About MalaCards
    jansen's metaphyseal chondrodysplasia    tooth ankylosis    heart cancer    ollier disease
    eiken syndrome    chondrodysplasia blomstrand type    hypomyelination and congenital cataract    thanatophoric dysplasia
    enchondroma    chondrodysplasia    osteomalacia    pseudohypoparathyroidism
    ossification of the posterior longitudinal ligament of the spine    humoral hypercalcemia of malignancy    oncogenic osteomalacia    hypercalcemia
    metaphyseal dysplasia

    4 diseases from the University of Copenhagen DISEASES database for PTH1R:
    Heart cancer     Hypercalcemia     Metaphyseal dysplasia     Osteoporosis

    Find genes that share disorders with PTH1R           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): PTH1R
    Human Genome Epidemiology (HuGE) Navigator: PTH1R (0 documents)

    Export disorders for PTH1R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PTH1R gene, integrated from 10 sources (see all 381):
    (articles sorted by number of sources associating them with PTH1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Hum. Mutat. 2004)
    2. 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. (Genomics 1994)
    3. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. (PubMed id 19061984)1, 2, 9 Decker E.... Weber B.H.F. (Am. J. Hum. Genet. 2008)
    4. 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. (Mol. Endocrinol. 1997)
    5. 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. (Biochemistry 2000)
    6. 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. (J. Clin. Endocrinol. Metab. 1998)
    7. A mutant PTH/PTHrP type I receptor in enchondromatosis. (PubMed id 11850620)1, 2, 9 Hopyan S.... Alman B.A. (Nat. Genet. 2002)
    8. 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. (Endocrinology 1993)
    9. Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides. (PubMed id 19674967)1, 2, 9 Pioszak A.A.... Xu H.E. (J. Biol. Chem. 2009)
    10. 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. (N. Engl. J. Med. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5745 HGNC: 9608 AceView: PTHR1 Ensembl:ENSG00000160801 euGenes: HUgn5745
    ECgene: PTH1R Kegg: 5745 H-InvDB: PTH1R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTH1R Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PTH1R[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for PTH1R gene:
    Search GeneIP for patents involving PTH1R

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