LOCUS       NM_000369               4308 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens thyroid stimulating hormone receptor (TSHR),
            transcript variant 1, mRNA.
ACCESSION   NM_000369
VERSION     NM_000369.5
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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 4308)
  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 AC010072.5, AC007262.4 and
            AL136040.5.
            
            On Mar 19, 2020 this sequence version replaced NM_000369.4.
            
            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 (1) represents the longer
            transcript and it encodes the longer protein (isoform 1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038192.744242.1,
                                           SRR14038193.1488990.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298171.7/ ENSP00000298171.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-230               AC010072.5         103617-103846
            231-302             AC007262.4         100526-100597
            303-377             AC007262.4         106632-106706
            378-452             AC007262.4         126332-126406
            453-527             AC007262.4         129447-129521
            528-605             AC007262.4         130909-130986
            606-674             AC007262.4         135017-135085
            675-752             AC007262.4         146753-146830
            753-941             AL136040.5         181529-181717       c
            942-4308            AL136040.5         175090-178456       c
FEATURES             Location/Qualifiers
     source          1..4308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.1"
     gene            1..4308
                     /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..2355
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; seven transmembrane helix receptor; thyrotropin
                     receptor-I, hTSHR-I; TSH receptor"
                     /codon_start=1
                     /product="thyrotropin receptor isoform 1 precursor"
                     /protein_id="NP_000360.2"
                     /db_xref="CCDS:CCDS9872.1"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
                     /translation="MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDI
                     QRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSK
                     VTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
                     NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDK
                     DAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRAD
                     LSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDSI
                     VGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGD
                     SEDMVCTPKSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPR
                     FLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPGCNTAGFFTVFASELS
                     VYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKV
                     SICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAK
                     RMAVLIFTDFICMAPISFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFT
                     KAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLHNMEDVYE
                     LIENSHLTPKKQGQISEEYMQTVL"
     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..941
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     exon            942..4308
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3904..3909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="hexamer: AATAAA"
     polyA_site      3927
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="major polyA site"
     regulatory      4275..4280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="hexamer: AATAAA"
     polyA_site      4308
                     /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 ctggacgtgt ctcaaaccag tgtcactgcc
      781 cttccatcca aaggcctgga gcacctgaag gaactgatag caagaaacac ctggactctt
      841 aagaaacttc cactttcctt gagtttcctt cacctcacac gggctgacct ttcttaccca
      901 agccactgct gtgcttttaa gaatcagaag aaaatcagag gaatccttga gtccttgatg
      961 tgtaatgaga gcagtatgca gagcttgcgc cagagaaaat ctgtgaatgc cttgaatagc
     1021 cccctccacc aggaatatga agagaatctg ggtgacagca ttgttgggta caaggaaaag
     1081 tccaagttcc aggatactca taacaacgct cattattacg tcttctttga agaacaagag
     1141 gatgagatca ttggttttgg ccaggagctc aaaaaccccc aggaagagac tctacaagct
     1201 tttgacagcc attatgacta caccatatgt ggggacagtg aagacatggt gtgtaccccc
     1261 aagtccgatg agttcaaccc gtgtgaagac ataatgggct acaagttcct gagaattgtg
     1321 gtgtggttcg ttagtctgct ggctctcctg ggcaatgtct ttgtcctgct tattctcctc
     1381 accagccact acaaactgaa cgtcccccgc tttctcatgt gcaacctggc ctttgcggat
     1441 ttctgcatgg ggatgtacct gctcctcatc gcctctgtag acctctacac tcactctgag
     1501 tactacaacc atgccatcga ctggcagaca ggccctgggt gcaacacggc tggtttcttc
     1561 actgtctttg caagcgagtt atcggtgtat acgctgacgg tcatcaccct ggagcgctgg
     1621 tatgccatca ccttcgccat gcgcctggac cggaagatcc gcctcaggca cgcatgtgcc
     1681 atcatggttg ggggctgggt ttgctgcttc cttctcgccc tgcttccttt ggtgggaata
     1741 agtagctatg ccaaagtcag tatctgcctg cccatggaca ccgagacccc tcttgctctg
     1801 gcatatattg tttttgttct gacgctcaac atagttgcct tcgtcatcgt ctgctgctgt
     1861 tatgtgaaga tctacatcac agtccgaaat ccgcagtaca acccagggga caaagatacc
     1921 aaaattgcca agaggatggc tgtgttgatc ttcaccgact tcatatgcat ggccccaatc
     1981 tcattctatg ctctgtcagc aattctgaac aagcctctca tcactgttag caactccaaa
     2041 atcttgctgg tactcttcta tccacttaac tcctgtgcca atccattcct ctatgctatt
     2101 ttcaccaagg ccttccagag ggatgtgttc atcctactca gcaagtttgg catctgtaaa
     2161 cgccaggctc aggcataccg ggggcagagg gttcctccaa agaacagcac tgatattcag
     2221 gttcaaaagg ttacccacga gatgaggcag ggtctccaca acatggaaga tgtctatgaa
     2281 ctgattgaaa actcccatct aaccccaaag aagcaaggcc aaatctcaga agagtatatg
     2341 caaacggttt tgtaagttaa cactacacta ctcacaatgg taggggaact tacaaaataa
     2401 tagtttcttg aatatgcatt ccaatcccat gacaccccca acacatagct gccctcactc
     2461 ttgtgcaggc gatgtttcaa tgtttcatgg ggcaagagtt tatctctgga gagtgattag
     2521 tattaaccta atcattgccc ccaagaagga agttaggcta ccagcatatt tgaatgccag
     2581 gtgaaatcaa aataatctac actatctaga agactttctt gatgccaagt ccagagatgt
     2641 cattgtgtag gatgttcagt aaatattaac tgagctatgt caatatagag cttctcagtt
     2701 ttgtataaca tttcatacta aagattcagc aaatggaaaa tgctattaat ttggttggtg
     2761 accacaagat aaaatcagtc ccacgttggc tcagttcaac tagatgttcc ctgatacaaa
     2821 gagaacttga tttccttaaa actgaaaagc caaacacagc tagctgtcat acaagaaaca
     2881 gctattatga gacatgaagg agggtaagaa ttagctttaa gttttgtttt gctttgtttt
     2941 gttttttaac tcaacctatt aatcatctct tcacaagaat ccacctgatg tgaccaagct
     3001 attatgtgtt gcctggaaaa actggcaaga tttcagctta tgtggcctag caaactaaga
     3061 attgctcttc ttggccagcc tcatagcata aaagatgtga actctaggaa gtctttctga
     3121 gtagcaataa gtgggaatta tgggcagagc acactcaatc ccctgttgat taataaaaca
     3181 ggctggacac taattaacta tgggacttaa atctgtagaa atgaaggagt ccaatagctt
     3241 cttccaattt taaaactcta gtacatccct ttccctcaaa tatatatttc taagataaag
     3301 agaaagaaga gcactaagta agtagaatct gtttttccta ttttgtaggg ctgctgactc
     3361 ctagtccttg aagcctagac acatgaccca ggaaattttt cctttgtttc acttttgatt
     3421 atgatgtctg agccaaaaat tcaattaagt aaacatactc gcctggatct gaatcattca
     3481 tttaattact agatctaccc agctgttata tcaggccaaa aacagattcg tgtttatata
     3541 aaagagtaaa cgatggttgc aaattttggc tatttagagt tgctacttca ctatgaagag
     3601 tcacttcaaa acacttcgct tgtctttagg gatgattttt gccatttcca gtccacggta
     3661 tgatactaaa gctgtcaaga gaggtttctt cttttctgaa actgccagct ctttccagcc
     3721 ctgttgatca ctggacataa agcttctttt ccccaataat tcttctttac ttaaaatagt
     3781 caggatcttt atctacagat gtactctcca ggttacctgt gatgatagcc ccctaatgtc
     3841 ctgctagaaa agtctccaag cagagatgac attacttctg aatgctcata aaccacacca
     3901 tgaaataaaa gctctttgtt gttttaagat tgtgaagtgt cgttaatggg tccccacaga
     3961 tggtccctgc tggactcacc tggaatctct ccacagccat acccactcat cactatcatt
     4021 gagacctgca catcttaata gaaatattat aaacatcgaa aatcatgact tacctagaag
     4081 ttcgcttgta actaatgaaa ttaaacaaat gtgttgcctt ttgtcatgtg tttctctcct
     4141 gtgacatttc aaaatatcac atcttgataa ataatgtgtt tcatcttgaa tagctgaact
     4201 aattgctttg gaaacagagt cctagaaaag tgacttcaac agaattgtta ctaaaatttg
     4261 cactcacaac atgaaataaa ttttcttcct atggaataat cgtgccaa
//
