LOCUS       NM_000316               2153 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript
            variant 1, mRNA.
ACCESSION   NM_000316
VERSION     NM_000316.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2153)
  AUTHORS   Wang,J., Zhao,C., Zhang,X., Yang,L. and Hu,Y.
  TITLE     Identification of a novel heterozygous PTH1R variant in a Chinese
            family with incomplete penetrance
  JOURNAL   Mol Genet Genomic Med 12 (1), e2301 (2024)
   PUBMED   37840415
  REMARK    GeneRIF: Identification of a novel heterozygous PTH1R variant in a
            Chinese family with incomplete penetrance.
REFERENCE   2  (bases 1 to 2153)
  AUTHORS   Zha,Y., Li,S., Yu,Y.L., Huang,Z., Zhang,H.Y. and Kong,W.
  TITLE     Identification of a novel PTH1R variant in a family with primary
            failure of eruption
  JOURNAL   BMC Oral Health 23 (1), 509 (2023)
   PUBMED   37480042
  REMARK    GeneRIF: Identification of a novel PTH1R variant in a family with
            primary failure of eruption.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2153)
  AUTHORS   Kobayashi,K., Kawakami,K., Kusakizako,T., Tomita,A., Nishimura,M.,
            Sawada,K., Okamoto,H.H., Hiratsuka,S., Nakamura,G., Kuwabara,R.,
            Noda,H., Muramatsu,H., Shimizu,M., Taguchi,T., Inoue,A., Murata,T.
            and Nureki,O.
  TITLE     Class B1 GPCR activation by an intracellular agonist
  JOURNAL   Nature 618 (7967), 1085-1093 (2023)
   PUBMED   37286611
  REMARK    GeneRIF: Class B1 GPCR activation by an intracellular agonist.
REFERENCE   4  (bases 1 to 2153)
  AUTHORS   Parameswaran,A.S., Singh,K., Vyas,V. and Tada,N.K.
  TITLE     Rare Variant of PTH1R Mutation in an Indian Family
  JOURNAL   J Assoc Physicians India 71 (1), 1 (2023)
   PUBMED   37116011
  REMARK    GeneRIF: Rare Variant of PTH1R Mutation in an Indian Family.
REFERENCE   5  (bases 1 to 2153)
  AUTHORS   Pioszak,A.A., Harikumar,K.G., Parker,N.R., Miller,L.J. and Xu,H.E.
  TITLE     Dimeric arrangement of the parathyroid hormone receptor and a
            structural mechanism for ligand-induced dissociation
  JOURNAL   J Biol Chem 285 (16), 12435-12444 (2010)
   PUBMED   20172855
  REMARK    GeneRIF: The crystal structure of the ligand-free PTH1R
            extracellular domain (ECD) reveals a dimer in which the C-terminal
            segment of both ECD protomers forms an alpha-helix that mimics
            PTH/PTHrP by occupying the peptide binding groove of the opposing
            protomer.
REFERENCE   6  (bases 1 to 2153)
  AUTHORS   Schipani,E., Langman,C.B., Parfitt,A.M., Jensen,G.S., Kikuchi,S.,
            Kooh,S.W., Cole,W.G. and Juppner,H.
  TITLE     Constitutively activated receptors for parathyroid hormone and
            parathyroid hormone-related peptide in Jansen's metaphyseal
            chondrodysplasia
  JOURNAL   N Engl J Med 335 (10), 708-714 (1996)
   PUBMED   8703170
REFERENCE   7  (bases 1 to 2153)
  AUTHORS   Schipani,E., Weinstein,L.S., Bergwitz,C., Iida-Klein,A., Kong,X.F.,
            Stuhrmann,M., Kruse,K., Whyte,M.P., Murray,T., Schmidtke,J. et al.
  TITLE     Pseudohypoparathyroidism type Ib is not caused by mutations in the
            coding exons of the human parathyroid hormone (PTH)/PTH-related
            peptide receptor gene
  JOURNAL   J Clin Endocrinol Metab 80 (5), 1611-1621 (1995)
   PUBMED   7745008
REFERENCE   8  (bases 1 to 2153)
  AUTHORS   Schipani,E., Kruse,K. and Juppner,H.
  TITLE     A constitutively active mutant PTH-PTHrP receptor in Jansen-type
            metaphyseal chondrodysplasia
  JOURNAL   Science 268 (5207), 98-100 (1995)
   PUBMED   7701349
REFERENCE   9  (bases 1 to 2153)
  AUTHORS   Schneider,H., Feyen,J.H., Seuwen,K. and Movva,N.R.
  TITLE     Cloning and functional expression of a human parathyroid hormone
            receptor
  JOURNAL   Eur J Pharmacol 246 (2), 149-155 (1993)
   PUBMED   8397094
REFERENCE   10 (bases 1 to 2153)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109583.2, U17418.1 and
            CA412652.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000316.2.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U17418.1, X68596.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000449590.6/ ENSP00000402723.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC109583.2         123973-123997
            26-1616             U17418.1           16-1606
            1617-2153           CA412652.1         17-553              c
FEATURES             Location/Qualifiers
     source          1..2153
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2153
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="parathyroid hormone 1 receptor"
                     /db_xref="GeneID:5745"
                     /db_xref="HGNC:HGNC:9608"
                     /db_xref="MIM:168468"
     exon            1..123
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            124..180
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            181..303
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..2010
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="parathyroid hormone receptor 1; parathyroid
                     hormone/parathyroid hormone-related peptide receptor;
                     parathyroid hormone/parathyroid hormone-related protein
                     receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor;
                     seven transmembrane helix receptor; PTH1 receptor"
                     /codon_start=1
                     /product="parathyroid hormone/parathyroid hormone-related
                     peptide receptor precursor"
                     /protein_id="NP_000307.1"
                     /db_xref="CCDS:CCDS2747.1"
                     /db_xref="GeneID:5745"
                     /db_xref="HGNC:HGNC:9608"
                     /db_xref="MIM:168468"
                     /translation="MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRA
                     QAQCEKRLKEVLQRPASIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSR
                     YRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGH
                     NRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCT
                     RNYIHMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAA
                     GYAGCRVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAV
                     FVAVWVSVRATLANTGCWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRET
                     NAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYTEVSGTLWQVQMHYEMLFNSF
                     QGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSGSSSYSYGPMVSHTSVTNV
                     GPRVGLGLPLSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKDDGFLNG
                     SCSGLDEEASGPERPPALLQEEWETVM"
     exon            304..406
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            407..541
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            542..652
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            653..771
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            772..866
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1062
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1216
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1277
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1344
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1439
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1581
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1623
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..2153
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="hexamer: AAGAAA"
     regulatory      2136..2141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="hexamer: AAGAAA"
     polyA_site      2149
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="major polyA site"
     polyA_site      2153
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="major polyA site"
ORIGIN      
        1 agcactatcc ttgcttaggc ctgagccaca gaagctgctc agggactatc catggcctcc
       61 ccgtggccaa cttgagtctg ctctgcagct ttaggcccga cttggaaggc ccatgggctg
      121 cagatgagga aactgaggtc cagacagccg aagagtggta gtgtccagga cacacaactg
      181 ggccggcggc ggcggctgcc ccgagggacg cggccctagg cggtggcgat ggggaccgcc
      241 cggatcgcac ccggcctggc gctcctgctc tgctgccccg tgctcagctc cgcgtacgcg
      301 ctggtggatg cagatgacgt catgactaaa gaggaacaga tcttcctgct gcaccgtgct
      361 caggcccagt gcgaaaaacg gctcaaggag gtcctgcaga ggccagccag cataatggaa
      421 tcagacaagg gatggacatc tgcgtccaca tcagggaagc ccaggaaaga taaggcatct
      481 gggaagctct accctgagtc tgaggaggac aaggaggcac ccactggcag caggtaccga
      541 gggcgcccct gtctgccgga atgggaccac atcctgtgct ggccgctggg ggcaccaggt
      601 gaggtggtgg ctgtgccctg tccggactac atttatgact tcaatcacaa aggccatgcc
      661 taccgacgct gtgaccgcaa tggcagctgg gagctggtgc ctgggcacaa caggacgtgg
      721 gccaactaca gcgagtgtgt caaatttctc accaatgaga ctcgtgaacg ggaggtgttt
      781 gaccgcctgg gcatgattta caccgtgggc tactccgtgt ccctggcgtc cctcaccgta
      841 gctgtgctca tcctggccta ctttaggcgg ctgcactgca cgcgcaacta catccacatg
      901 cacctgttcc tgtccttcat gctgcgcgcc gtgagcatct tcgtcaagga cgctgtgctc
      961 tactctggcg ccacgcttga tgaggctgag cgcctcaccg aggaggagct gcgcgccatc
     1021 gcccaggcgc ccccgccgcc tgccaccgcc gctgccggct acgcgggctg cagggtggct
     1081 gtgaccttct tcctttactt cctggccacc aactactact ggattctggt ggaggggctg
     1141 tacctgcaca gcctcatctt catggccttc ttctcagaga agaagtacct gtggggcttc
     1201 acagtcttcg gctggggtct gcccgctgtc ttcgtggctg tgtgggtcag tgtcagagct
     1261 accctggcca acaccgggtg ctgggacttg agctccggga acaaaaagtg gatcatccag
     1321 gtgcccatcc tggcctccat tgtgctcaac ttcatcctct tcatcaatat cgtccgggtg
     1381 ctcgccacca agctgcggga gaccaacgcc ggccggtgtg acacacggca gcagtaccgg
     1441 aagctgctca aatccacgct ggtgctcatg cccctctttg gcgtccacta cattgtcttc
     1501 atggccacac catacaccga ggtctcaggg acgctctggc aagtccagat gcactatgag
     1561 atgctcttca actccttcca gggatttttt gtcgcaatca tatactgttt ctgcaatggc
     1621 gaggtacaag ctgagatcaa gaaatcttgg agccgctgga cactggcact ggacttcaag
     1681 cgaaaggcac gcagcgggag cagcagctat agctacggcc ccatggtgtc ccacacaagt
     1741 gtgaccaatg tcggcccccg tgtgggactc ggcctgcccc tcagcccccg cctactgccc
     1801 actgccacca ccaacggcca ccctcagctg cctggccatg ccaagccagg gaccccagcc
     1861 ctggagaccc tcgagaccac accacctgcc atggctgctc ccaaggacga tgggttcctc
     1921 aacggctcct gctcaggcct ggacgaggag gcctctgggc ctgagcggcc acctgccctg
     1981 ctacaggaag agtgggagac agtcatgtga ccaggcgctg ggggctggac ctgctgacat
     2041 agtggatgga cagatggacc aaaagatggg tggttgaatg atttcccact cagggctggg
     2101 gccaagagga aaaacaggga aaaaaagaaa aaaaaaagaa aaaggaaaag gaa
//
