LOCUS       NM_001142626            1144 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens thyroid stimulating hormone receptor (TSHR),
            transcript variant 3, mRNA.
ACCESSION   NM_001142626
VERSION     NM_001142626.3
KEYWORDS    RefSeq.
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 1144)
  AUTHORS   Smith,T.J.
  TITLE     TSHR-IGF-IR complex drives orbital fibroblast misbehavior in
            thyroid eye disease
  JOURNAL   Curr Opin Endocrinol Diabetes Obes 31 (5), 177-183 (2024)
   PUBMED   39082947
  REMARK    GeneRIF: TSHR-IGF-IR complex drives orbital fibroblast misbehavior
            in thyroid eye disease.
            Review article
REFERENCE   2  (bases 1 to 1144)
  AUTHORS   Yeste,D., Baz-Redon,N., Antolin,M., Garcia-Arumi,E., Mogas,E.,
            Campos-Martorell,A., Gonzalez-Llorens,N., Aguilar-Riera,C.,
            Soler-Colomer,L., Clemente,M., Fernandez-Cancio,M. and
            Camats-Tarruella,N.
  TITLE     Genetic and Functional Studies of Patients with Thyroid
            Dyshormonogenesis and Defects in the TSH Receptor (TSHR)
  JOURNAL   Int J Mol Sci 25 (18), 10032 (2024)
   PUBMED   39337518
  REMARK    GeneRIF: Genetic and Functional Studies of Patients with Thyroid
            Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1144)
  AUTHORS   Zhang,H.Y., Wu,F.Y., Li,X.S., Tu,P.H., Zhang,C.X., Yang,R.M.,
            Cui,R.J., Wu,C.Y., Fang,Y., Yang,L., Song,H.D. and Zhao,S.X.
  TITLE     TSHR Variant Screening and Phenotype Analysis in 367 Chinese
            Patients With Congenital Hypothyroidism
  JOURNAL   Ann Lab Med 44 (4), 343-353 (2024)
   PUBMED   38433572
  REMARK    GeneRIF: TSHR Variant Screening and Phenotype Analysis in 367
            Chinese Patients With Congenital Hypothyroidism.
REFERENCE   4  (bases 1 to 1144)
  AUTHORS   Marques-Carvalho,A., Silva,B., Pereira,F.B., Kim,H.N., Almeida,M.
            and Sardao,V.A.
  TITLE     Oestradiol and osteoclast differentiation: Effects on p53 and
            mitochondrial metabolism
  JOURNAL   Eur J Clin Invest 54 (6), e14195 (2024)
   PUBMED   38519718
REFERENCE   5  (bases 1 to 1144)
  AUTHORS   Kufoof,T., Luxford,C., Kannangara,K., Clifton-Bligh,R. and
            Donaghue,K.C.
  TITLE     A Novel TSHR Gene Mutation in a Family with Non-autoimmune
            Hyperthyroidism
  JOURNAL   Med Arch 78 (2), 154-158 (2024)
   PUBMED   38566871
  REMARK    GeneRIF: A Novel TSHR Gene Mutation in a Family with Non-autoimmune
            Hyperthyroidism.
REFERENCE   6  (bases 1 to 1144)
  AUTHORS   Takeshita,A., Nagayama,Y., Fujiyama,K., Yokoyama,N., Namba,H.,
            Yamashita,S., Izumi,M. and Nagataki,S.
  TITLE     Molecular cloning and sequencing of an alternatively spliced form
            of the human thyrotropin receptor transcript
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1214-1219 (1992)
   PUBMED   1445355
REFERENCE   7  (bases 1 to 1144)
  AUTHORS   Graves,P.N., Tomer,Y. and Davies,T.F.
  TITLE     Cloning and sequencing of a 1.3 KB variant of human thyrotropin
            receptor mRNA lacking the transmembrane domain
  JOURNAL   Biochem Biophys Res Commun 187 (2), 1135-1143 (1992)
   PUBMED   1530609
REFERENCE   8  (bases 1 to 1144)
  AUTHORS   Loosfelt,H., Pichon,C., Jolivet,A., Misrahi,M., Caillou,B.,
            Jamous,M., Vannier,B. and Milgrom,E.
  TITLE     Two-subunit structure of the human thyrotropin receptor
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3765-3769 (1992)
   PUBMED   1570295
REFERENCE   9  (bases 1 to 1144)
  AUTHORS   Nagayama,Y., Russo,D., Wadsworth,H.L., Chazenbalk,G.D. and
            Rapoport,B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in
            ligand binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   10 (bases 1 to 1144)
  AUTHORS   Murakami,M. and Mori,M.
  TITLE     Identification of immunogenic regions in human thyrotropin receptor
            for immunoglobulin G of patients with Graves' disease
  JOURNAL   Biochem Biophys Res Commun 171 (1), 512-518 (1990)
   PUBMED   1697467
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC024205.2, BC127628.1 and
            BC108653.1.
            
            On Jul 3, 2019 this sequence version replaced NM_001142626.2.
            
            Summary: The protein encoded by this gene is a membrane protein and
            a major controller of thyroid cell metabolism. The encoded protein
            is a receptor for thyrothropin and thyrostimulin, and its activity
            is mediated by adenylate cyclase. Defects in this gene are a cause
            of several types of hyperthyroidism. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (3) differs in the 3' UTR and
            coding sequence and uses an alternate in-frame splice junction
            compared to variant 1. The resulting isoform (3) has a shorter and
            distinct C-terminus and contains an alternate internal segment
            compared to isoform 1.
            
            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 :: BC127628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BC024205.2         191-224
            35-818              BC127628.1         1-784
            819-1144            BC108653.1         769-1094
FEATURES             Location/Qualifiers
     source          1..1144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.1"
     gene            1..1144
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="thyroid stimulating hormone receptor"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
     exon            1..230
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..885
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; seven transmembrane helix receptor; thyrotropin
                     receptor-I, hTSHR-I; TSH receptor"
                     /codon_start=1
                     /product="thyrotropin receptor isoform 3 precursor"
                     /protein_id="NP_001136098.1"
                     /db_xref="CCDS:CCDS55935.1"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
                     /translation="MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDI
                     QRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSK
                     VTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
                     NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDK
                     DAFGGVYSGPSLLVENVAVSGKGFCKSLFSWLYRLPLGRKSLSFETQKAPRSSMPS"
     exon            231..302
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            303..377
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            378..452
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            453..527
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            528..605
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            606..674
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            675..752
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            753..1144
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1121..1126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="hexamer: AATAAA"
     polyA_site      1144
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="major polyA site"
ORIGIN      
        1 gcagagctga gaatgaggcg atttcggagg atggagaaat agccccgagt cccgtggaaa
       61 atgaggccgg cggacttgct gcagctggtg ctgctgctcg acctgcccag ggacctgggc
      121 ggaatggggt gttcgtctcc accctgcgag tgccatcagg aggaggactt cagagtcacc
      181 tgcaaggata ttcaacgcat ccccagctta ccgcccagta cgcagactct gaagcttatt
      241 gagactcacc tgagaactat tccaagtcat gcattttcta atctgcccaa tatttccaga
      301 atctacgtat ctatagatgt gactctgcag cagctggaat cacactcctt ctacaatttg
      361 agtaaagtga ctcacataga aattcggaat accaggaact taacttacat agaccctgat
      421 gccctcaaag agctccccct cctaaagttc cttggcattt tcaacactgg acttaaaatg
      481 ttccctgacc tgaccaaagt ttattccact gatatattct ttatacttga aattacagac
      541 aacccttaca tgacgtcaat ccctgtgaat gcttttcagg gactatgcaa tgaaaccttg
      601 acactgaagc tgtacaacaa tggctttact tcagtccaag gatatgcttt caatgggaca
      661 aagctggatg ctgtttacct aaacaagaat aaatacctga cagttattga caaagatgca
      721 tttggaggag tatacagtgg accaagcttg ctggtagaaa atgttgctgt ctcgggtaaa
      781 ggcttctgca agtccctctt ttcctggctg tataggctac ctcttggaag aaagtccttg
      841 tcctttgaga ctcagaaggc cccacgctcc agtatgccat catgatgcct gctaaggcag
      901 ccaccttggt gtacatgctc acagaggctc tgttcatgga gcagctgctg tttgaaaaat
      961 tttgaaatgc aagatccaca actagatgga aggcactcta gtctttgcag aaaaaaatgt
     1021 acctgaatgt acattgcaca atgcctggca caaagaagga agaatataaa tgatagttcg
     1081 actcgtctgt ggaagaactt acaatcatgg ggaaagatgg aataaaaaca ttttttaaac
     1141 agca
//
