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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTH1R Gene

protein-coding   GIFtS: 67
GCID: GC03P046895

Parathyroid Hormone 1 Receptor

(Previous name: parathyroid hormone receptor 1)
(Previous symbols: PTHR, PTHR1)
  See 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)
About This Section

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


(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 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 ollier disease, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences 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 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)
PTH1R gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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: Q2M1U3

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

Explore proteomics data for PTH1R at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q03431

  • PTH1R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTH1R Protein Expression
    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: 
    EMD Millipore Purified and/or Recombinant PTH1R Protein
    R&D Systems Recombinant & Natural Proteins for PTH1R (PTH1R/PTHR1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PTH1R
    OriGene Custom MassSpec 
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    Novus Biologicals PTH1R Proteins
    Novus Biologicals PTH1R Lysate
    Sino Biological Recombinant Protein for PTH1R
    Sino Biological Cell Lysate for PTH1R 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (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 to plasma membrane IDA19674967

    PTH1R for ontologies           About GeneDecksing



    PTH1R Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    PTH1R for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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
    this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium
    second messenger system

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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:0017046peptide hormone binding IDA19674967
    GO:0043621protein self-association IDA19674967
         
    PTH1R for ontologies           About GeneDecksing


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

    PTH1R for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTH1R 
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       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 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PTH1R
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PTH1R

    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of PTH1R 
                         Customized lentivirus expression plasmids for stable overexpression of PTH1R 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH1R


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTH1R About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.37
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Prostacyclin signalling through prostacyclin receptor
    Class B/2 (Secretin family receptors)0.36
    G alpha (s) signalling events0.31
    4Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    5Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore 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


    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


    5/6        Reactome Pathways for PTH1R (see all 6)
        GPCR downstream signaling
    Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)


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


    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 (Q034312, 3 ENSP000003219994) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    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): 5/19 biological process terms (GO ID links to tree view) (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 ----

    PTH1R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/30 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

    10/33 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)

    Search CenterWatch for drugs/clinical trials and news about PTH1R

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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

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    SwitchGear 3'UTR luciferase reporter plasmidPTH1R 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTH1R
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTH1R
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      QIAGEN 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 

    24/70 AceView cDNA sequences (see all 70):

    BX119179 X68596 CR595263 NM_000316 BQ028831 BQ772345 CA412652 AA357377 
    BQ023127 BC031578 CA389051 BQ025985 BF526518 BQ023754 AY449732 AA312910 
    BV207925 BG828526 CA414821 L04308 AI146433 AI933214 BI755699 AF495723 

    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™, 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)      PTH1R embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 57 entries
             Endochondral Osteoblasts Rostral Endochondral Facial Bones
             Thoracic Rib
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/cranium/vault of skull   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 40 entries
             Polymorphic Cells Temporomandibular Joint
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/cranium/vault of skull   
     
     Fibroblast
             Human periodontal ligament Fibroblasts (HPLF)   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             skeleton/cranium/vault of skull   
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+BMP4-induced E15 cells
             Human Mesenchymal Stem Cell-adipose (HMSC-ad)   

    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: 
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              G Protein Coupled Receptors 384HT in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PTH1R gene from 4/9 species (see all 9)    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 71.56(n)
    77.32(a)
      420401  NM_001177575.1  NP_001171046.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTH1R6
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343687.1(174417-229531)
    zebrafish
    (Danio rerio)
    Actinopterygii pthr12 parathyroid hormone receptor 1 77.18(n)   30629  AF132084.1 


    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)
    About This Section
    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    GIPR    VIPR1    CALCRL    CRHR2
    CALCR    ADCYAP1R1

    PTH1R for paralogs           About GeneDecksing



    (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) 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

    10/647 SNPs in PTH1R are shown (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,FEnchondromatosis multiple (ENCHOM)4 untested185552648(+) 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/57 diseases for PTH1R (see all 57):    About MalaCards
    jansen's metaphyseal chondrodysplasia    ollier disease    enchondroma    failure of tooth eruption, primary
    heart cancer    eiken syndrome    chondrodysplasia blomstrand type    chondrodysplasia
    thanatophoric dysplasia    osteomalacia    pseudohypoparathyroidism    osteochondrodysplasia
    ossification of the posterior longitudinal ligament of the spine    oncogenic osteomalacia    skeletal dysplasias    hypercalcemia
    achondroplasia    osteonecrosis    ankylosis    hypoparathyroidism

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

    PTH1R for disorders           About GeneDecksing

    10/35 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)
    About This Section

    PubMed articles for PTH1R gene, integrated from 9 sources (see all 379):
    (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. (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. (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. (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. (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. (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. (1998)
    7. A mutant PTH/PTHrP type I receptor in enchondromatosis. (PubMed id 11850620)1, 2, 9 Hopyan S.... Alman B.A. (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. (1993)
    9. 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)
    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. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  

      Query String
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      (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)
    About This Section
    Entrez Gene: 5745 HGNC: 9608 AceView: PTHR1 Ensembl:ENSG00000160801 euGenes: HUgn5745
    ECgene: PTH1R Kegg: 5745 H-InvDB: PTH1R

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTH1R Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTH1R

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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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    About This Section

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