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P16473

- TSHR_HUMAN

UniProt

P16473 - TSHR_HUMAN

Protein

Thyrotropin receptor

Gene

TSHR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 182 (01 Oct 2014)
      Sequence version 2 (29 Mar 2005)
      Previous versions | rss
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    Functioni

    Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also acts as a receptor for thyrostimulin (GPA2+GPB5).1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. thyroid-stimulating hormone receptor activity Source: ProtInc

    GO - Biological processi

    1. cell-cell signaling Source: ProtInc
    2. G-protein coupled receptor signaling pathway Source: ProtInc
    3. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
    4. positive regulation of cell proliferation Source: ProtInc
    5. thyroid-stimulating hormone signaling pathway Source: GOC

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.
    SignaLinkiP16473.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thyrotropin receptor
    Alternative name(s):
    Thyroid-stimulating hormone receptor
    Short name:
    TSH-R
    Gene namesi
    Name:TSHR
    Synonyms:LGR3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:12373. TSHR.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: Reactome
    3. receptor complex Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in TSHR are found in patients affected by hyperthyroidism with different etiologies. Somatic, constitutively activating TSHR mutations and/or constitutively activating G(s)alpha mutations have been identified in toxic thyroid nodules (TTNs) that are the predominant cause of hyperthyroidism in iodine deficient areas. These mutations lead to TSH independent activation of the cAMP cascade resulting in thyroid growth and hormone production. TSHR mutations are found in autonomously functioning thyroid nodules (AFTN), toxic multinodular goiter (TMNG) and hyperfunctioning thyroid adenomas (HTA). TMNG encompasses a spectrum of different clinical entities, ranging from a single hyperfunctioning nodule within an enlarged thyroid, to multiple hyperfunctioning areas scattered throughout the gland. HTA are discrete encapsulated neoplasms characterized by TSH-independent autonomous growth, hypersecretion of thyroid hormones, and TSH suppression. Defects in TSHR are also a cause of thyroid neoplasms (papillary and follicular cancers).
    Autoantibodies against TSHR are directly responsible for the pathogenesis and hyperthyroidism of Graves disease. Antibody interaction with TSHR results in an uncontrolled receptor stimulation.
    Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200]: A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411C → S in CHNG1. 2 Publications
    VAR_011519
    Natural varianti109 – 1091R → Q in CHNG1. 1 Publication
    VAR_011520
    Natural varianti162 – 1621P → A in CHNG1. 4 Publications
    Corresponds to variant rs121908863 [ dbSNP | Ensembl ].
    VAR_011521
    Natural varianti167 – 1671I → N in CHNG1. 1 Publication
    VAR_011522
    Natural varianti252 – 2521L → P in CHNG1; displays a low expression at the cell surface and a reduced response to bovine TSH in terms of cAMP production. 1 Publication
    VAR_021495
    Natural varianti310 – 3101R → C in CHNG1. 1 Publication
    VAR_011524
    Natural varianti390 – 3901C → W in CHNG1; persistent hypothyroidism and defective thyroid development; habolishes high affinity hormone binding. 2 Publications
    VAR_011525
    Natural varianti410 – 4101D → N in CHNG1; lack of adenylate cyclase activation. 1 Publication
    VAR_011526
    Natural varianti450 – 4501R → H in CHNG1. 1 Publication
    VAR_011528
    Natural varianti467 – 4671L → P in CHNG1. 1 Publication
    VAR_017295
    Natural varianti477 – 4771T → I in CHNG1; severe hypothyroidism. 1 Publication
    VAR_017296
    Natural varianti498 – 4981G → S in CHNG1. 1 Publication
    VAR_011533
    Natural varianti525 – 5251F → L in CHNG1; impairs adenylate cyclase activation. 1 Publication
    VAR_011537
    Natural varianti553 – 5531A → T in CHNG1; severe hypothyroidism. 2 Publications
    VAR_011538
    Natural varianti600 – 6001C → R in CHNG1. 1 Publication
    VAR_017297
    Familial gestational hyperthyroidism (HTFG) [MIM:603373]: A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti183 – 1831K → R in HTFG; enhances receptor response to chorionic gonadotropin. 1 Publication
    VAR_003566
    Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152]: A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent.16 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti281 – 2811S → N in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 5 Publications
    VAR_003570
    Natural varianti431 – 4311G → S in HTNA; gain of function; constitutive activation of the G(s)/adenylyl cyclase system. 2 Publications
    VAR_011527
    Natural varianti453 – 4531M → T in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 4 Publications
    VAR_011529
    Natural varianti463 – 4631M → V in HTNA; gain of function. 1 Publication
    VAR_011530
    Natural varianti486 – 4861I → F in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas; also in hyperfunctioning follicular carcinoma. 4 Publications
    VAR_011531
    Natural varianti486 – 4861I → M in HTNA; found in hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011532
    Natural varianti505 – 5051S → N in HTNA; found in toxic thyroid nodules. 3 Publications
    VAR_003571
    Natural varianti505 – 5051S → R in HTNA; gain of function. 1 Publication
    VAR_011534
    Natural varianti509 – 5091V → A in HTNA; gain of function. 1 Publication
    VAR_011535
    Natural varianti568 – 5681I → T in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011539
    Natural varianti597 – 5971V → F in HTNA; 11-fold increase in specific constitutive activity associated with reduction in receptor protein expression. 1 Publication
    VAR_021499
    Natural varianti629 – 6291L → F in HTNA; also in hyperfunctioning thyroid adenomas and non-adenomatous nodules. 3 Publications
    VAR_003575
    Natural varianti631 – 6311F → L in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011545
    Natural varianti632 – 6321T → A in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning non-adenomatous nodules. 3 Publications
    VAR_011546
    Natural varianti632 – 6321T → I in HTNA; gain of function; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 7 Publications
    VAR_011547
    Natural varianti633 – 6331D → E in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 4 Publications
    VAR_011549
    Natural varianti639 – 6391P → S in HTNA; gain of function. 1 Publication
    VAR_011552
    Natural varianti647 – 6471A → V in HTNA; found in non-adenomatous hyperfunctioning nodules. 1 Publication
    VAR_011553
    Natural varianti650 – 6501N → Y in HTNA; gain of function. 1 Publication
    VAR_011554
    Natural varianti670 – 6701N → S in HTNA; gain of function. 1 Publication
    VAR_011556
    Natural varianti672 – 6721C → Y in HTNA; gain of function. 1 Publication
    VAR_011557

    Keywords - Diseasei

    Congenital hypothyroidism, Disease mutation

    Organism-specific databases

    MIMi275200. phenotype.
    603372. gene+phenotype.
    603373. phenotype.
    609152. phenotype.
    Orphaneti95713. Athyreosis.
    99819. Familial gestational hyperthyroidism.
    424. Familial hyperthyroidism due to mutations in TSH receptor.
    90673. Hypothyroidism due to TSH receptor mutations.
    95720. Thyroid hypoplasia.
    PharmGKBiPA37042.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Add
    BLAST
    Chaini21 – 764744Thyrotropin receptorPRO_0000012786Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi31 ↔ 41
    Glycosylationi77 – 771N-linked (GlcNAc...)2 Publications
    Glycosylationi99 – 991N-linked (GlcNAc...)1 Publication
    Glycosylationi113 – 1131N-linked (GlcNAc...)2 Publications
    Glycosylationi177 – 1771N-linked (GlcNAc...)1 Publication
    Glycosylationi198 – 1981N-linked (GlcNAc...)2 Publications
    Glycosylationi302 – 3021N-linked (GlcNAc...)1 Publication
    Disulfide bondi494 ↔ 569PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP16473.
    PRIDEiP16473.

    PTM databases

    PhosphoSiteiP16473.

    Expressioni

    Tissue specificityi

    Expressed in the thyroid.1 Publication

    Gene expression databases

    ArrayExpressiP16473.
    BgeeiP16473.
    CleanExiHS_TSHR.
    GenevestigatoriP16473.

    Organism-specific databases

    HPAiCAB000473.
    HPA026680.

    Interactioni

    Subunit structurei

    Interacts (via the PDZ-binding motif) with SCRIB; regulates TSHR trafficking and function.3 Publications

    Protein-protein interaction databases

    BioGridi113104. 11 interactions.
    STRINGi9606.ENSP00000298171.

    Structurei

    Secondary structure

    1
    764
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi26 – 283
    Beta strandi30 – 334
    Turni35 – 373
    Beta strandi38 – 414
    Beta strandi56 – 616
    Beta strandi65 – 673
    Turni69 – 746
    Beta strandi80 – 845
    Turni94 – 963
    Beta strandi97 – 993
    Beta strandi105 – 1117
    Beta strandi121 – 1233
    Beta strandi130 – 1367
    Beta strandi152 – 1609
    Turni169 – 1746
    Beta strandi175 – 1839
    Beta strandi190 – 1923
    Turni194 – 1996
    Beta strandi201 – 2066
    Turni218 – 2236
    Beta strandi229 – 2324
    Beta strandi250 – 2534

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1XUMmodel-A54-236[»]
    2XWTX-ray1.90C22-260[»]
    3G04X-ray2.55C22-260[»]
    ProteinModelPortaliP16473.
    SMRiP16473. Positions 24-305, 411-686.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP16473.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini21 – 413393ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini442 – 4509CytoplasmicSequence Analysis
    Topological domaini474 – 49421ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini518 – 53720CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini561 – 58020ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini603 – 62523CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini650 – 66011ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini683 – 76482CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei414 – 44128Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei451 – 47323Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei495 – 51723Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei538 – 56023Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei581 – 60222Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei626 – 64924Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei661 – 68222Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati100 – 12425LRR 1Add
    BLAST
    Repeati125 – 15026LRR 2Add
    BLAST
    Repeati152 – 17423LRR 3Add
    BLAST
    Repeati176 – 19924LRR 4Add
    BLAST
    Repeati200 – 22324LRR 5Add
    BLAST
    Repeati227 – 24822LRR 6Add
    BLAST
    Repeati250 – 27122LRR 7Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi762 – 7643PDZ-binding

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.PROSITE-ProRule annotation
    Contains 7 LRR (leucine-rich) repeats.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG285844.
    HOVERGENiHBG052887.
    InParanoidiP16473.
    KOiK04249.
    OMAiSSATIHK.
    OrthoDBiEOG73BVCG.
    PhylomeDBiP16473.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002131. Gphrmn_rcpt_fam.
    IPR001611. Leu-rich_rpt.
    IPR026906. LRR_5.
    IPR002274. TSH_rcpt.
    [Graphical view]
    PANTHERiPTHR24372. PTHR24372. 1 hit.
    PTHR24372:SF0. PTHR24372:SF0. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    PF13306. LRR_5. 1 hit.
    PF13855. LRR_8. 1 hit.
    [Graphical view]
    PRINTSiPR00373. GLYCHORMONER.
    PR00237. GPCRRHODOPSN.
    PR01145. TSHRECEPTOR.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform Long (identifier: P16473-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRPADLLQLV LLLDLPRDLG GMGCSSPPCE CHQEEDFRVT CKDIQRIPSL    50
    PPSTQTLKLI ETHLRTIPSH AFSNLPNISR IYVSIDVTLQ QLESHSFYNL 100
    SKVTHIEIRN TRNLTYIDPD ALKELPLLKF LGIFNTGLKM FPDLTKVYST 150
    DIFFILEITD NPYMTSIPVN AFQGLCNETL TLKLYNNGFT SVQGYAFNGT 200
    KLDAVYLNKN KYLTVIDKDA FGGVYSGPSL LDVSQTSVTA LPSKGLEHLK 250
    ELIARNTWTL KKLPLSLSFL HLTRADLSYP SHCCAFKNQK KIRGILESLM 300
    CNESSMQSLR QRKSVNALNS PLHQEYEENL GDSIVGYKEK SKFQDTHNNA 350
    HYYVFFEEQE DEIIGFGQEL KNPQEETLQA FDSHYDYTIC GDSEDMVCTP 400
    KSDEFNPCED IMGYKFLRIV VWFVSLLALL GNVFVLLILL TSHYKLNVPR 450
    FLMCNLAFAD FCMGMYLLLI ASVDLYTHSE YYNHAIDWQT GPGCNTAGFF 500
    TVFASELSVY TLTVITLERW YAITFAMRLD RKIRLRHACA IMVGGWVCCF 550
    LLALLPLVGI SSYAKVSICL PMDTETPLAL AYIVFVLTLN IVAFVIVCCC 600
    YVKIYITVRN PQYNPGDKDT KIAKRMAVLI FTDFICMAPI SFYALSAILN 650
    KPLITVSNSK ILLVLFYPLN SCANPFLYAI FTKAFQRDVF ILLSKFGICK 700
    RQAQAYRGQR VPPKNSTDIQ VQKVTHDMRQ GLHNMEDVYE LIENSHLTPK 750
    KQGQISEEYM QTVL 764
    Length:764
    Mass (Da):86,830
    Last modified:March 29, 2005 - v2
    Checksum:iD2EE9CEBFD64A65F
    GO
    Isoform Short (identifier: P16473-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         232-253: DVSQTSVTALPSKGLEHLKELI → LPLGRKSLSFETQKAPRSSMPS
         254-764: Missing.

    Show »
    Length:253
    Mass (Da):28,427
    Checksum:i69E12F0A7D8B5FD0
    GO
    Isoform 3 (identifier: P16473-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         232-274: DVSQTSVTAL...LSLSFLHLTR → VENVAVSGKG...QKAPRSSMPS
         275-764: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:274
    Mass (Da):30,800
    Checksum:iA8A8DBB061774F5C
    GO

    Sequence cautioni

    The sequence AAA70232.1 differs from that shown. Reason: Frameshift at positions 130, 135 and 612.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti87 – 871V → L no nucleotide entry (PubMed:2610690)Curated
    Sequence conflicti196 – 1983AFN → DFF in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti257 – 2571T → S in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti264 – 2641P → A in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti306 – 3083MQS → IET in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti528 – 5281R → A in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti601 – 6011Y → H in AAA36783. (PubMed:2558651)Curated
    Sequence conflicti635 – 6351I → T in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti645 – 6451L → V in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti669 – 6691L → I in AAA70232. (PubMed:2293030)Curated
    Sequence conflicti744 – 7441N → K in AAA61236. (PubMed:2302212)Curated
    Isoform Short (identifier: P16473-2)
    Sequence conflicti239 – 2391L → F in AAB24246. (PubMed:1445355)Curated
    Sequence conflicti248 – 2481R → S in AAB23390. (PubMed:1530609)Curated
    Sequence conflicti248 – 2481R → S in AAH09237. (PubMed:15489334)Curated
    Sequence conflicti248 – 2481R → S in AAI20974. (PubMed:15489334)Curated
    Sequence conflicti251 – 2511M → T in AAB23390. (PubMed:1530609)Curated
    Isoform 3 (identifier: P16473-3)
    Sequence conflicti269 – 2691R → S in AAI27629. (PubMed:15489334)Curated

    Polymorphismi

    The Asp727Glu polymorphism is associated with Graves disease in a Russian population. The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341E → K.
    Corresponds to variant rs45499704 [ dbSNP | Ensembl ].
    VAR_055925
    Natural varianti36 – 361D → H in a patient with Graves disease. 3 Publications
    Corresponds to variant rs61747482 [ dbSNP | Ensembl ].
    VAR_003564
    Natural varianti41 – 411C → S in CHNG1. 2 Publications
    VAR_011519
    Natural varianti52 – 521P → T Does not contribute to the genetic susceptibility to Graves disease. 6 Publications
    Corresponds to variant rs2234919 [ dbSNP | Ensembl ].
    VAR_003565
    Natural varianti109 – 1091R → Q in CHNG1. 1 Publication
    VAR_011520
    Natural varianti162 – 1621P → A in CHNG1. 4 Publications
    Corresponds to variant rs121908863 [ dbSNP | Ensembl ].
    VAR_011521
    Natural varianti167 – 1671I → N in CHNG1. 1 Publication
    VAR_011522
    Natural varianti183 – 1831K → R in HTFG; enhances receptor response to chorionic gonadotropin. 1 Publication
    VAR_003566
    Natural varianti197 – 1971F → I in papillary cancer. 1 Publication
    VAR_003567
    Natural varianti219 – 2191D → E in papillary cancer. 1 Publication
    VAR_003568
    Natural varianti252 – 2521L → P in CHNG1; displays a low expression at the cell surface and a reduced response to bovine TSH in terms of cAMP production. 1 Publication
    VAR_021495
    Natural varianti281 – 2811S → I in hyperthyroidism; congenital; due to a toxic adenoma. 1 Publication
    VAR_003569
    Natural varianti281 – 2811S → N in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 5 Publications
    VAR_003570
    Natural varianti281 – 2811S → T in hyperthyroidism; associated with hyperfunctioning thyroid adenomas. 1 Publication
    VAR_011523
    Natural varianti310 – 3101R → C in CHNG1. 1 Publication
    VAR_011524
    Natural varianti390 – 3901C → W in CHNG1; persistent hypothyroidism and defective thyroid development; habolishes high affinity hormone binding. 2 Publications
    VAR_011525
    Natural varianti410 – 4101D → N in CHNG1; lack of adenylate cyclase activation. 1 Publication
    VAR_011526
    Natural varianti425 – 4251S → I in TTNs; 8 to 9 times higher levels of basal cAMP than wild-type TSHR and similar response to maximal TSH stimulation. 1 Publication
    VAR_021496
    Natural varianti431 – 4311G → S in HTNA; gain of function; constitutive activation of the G(s)/adenylyl cyclase system. 2 Publications
    VAR_011527
    Natural varianti450 – 4501R → H in CHNG1. 1 Publication
    VAR_011528
    Natural varianti453 – 4531M → T in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 4 Publications
    VAR_011529
    Natural varianti463 – 4631M → V in HTNA; gain of function. 1 Publication
    VAR_011530
    Natural varianti467 – 4671L → P in CHNG1. 1 Publication
    VAR_017295
    Natural varianti477 – 4771T → I in CHNG1; severe hypothyroidism. 1 Publication
    VAR_017296
    Natural varianti486 – 4861I → F in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas; also in hyperfunctioning follicular carcinoma. 4 Publications
    VAR_011531
    Natural varianti486 – 4861I → M in HTNA; found in hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011532
    Natural varianti498 – 4981G → S in CHNG1. 1 Publication
    VAR_011533
    Natural varianti505 – 5051S → N in HTNA; found in toxic thyroid nodules. 3 Publications
    VAR_003571
    Natural varianti505 – 5051S → R in HTNA; gain of function. 1 Publication
    VAR_011534
    Natural varianti509 – 5091V → A in HTNA; gain of function. 1 Publication
    VAR_011535
    Natural varianti512 – 5121L → Q in TTNs; 5 times higher levels of basal cAMP than wild-type TSHR and slightly less response to maximal TSH stimulation. 1 Publication
    VAR_021497
    Natural varianti512 – 5121L → R in hyperthyroidism and TTNs; associated with autonomously functioning thyroid nodules; 3.3-fold increase in basal cAMP level. 3 Publications
    VAR_011536
    Natural varianti525 – 5251F → L in CHNG1; impairs adenylate cyclase activation. 1 Publication
    VAR_011537
    Natural varianti528 – 5281R → H.1 Publication
    VAR_003572
    Natural varianti553 – 5531A → T in CHNG1; severe hypothyroidism. 2 Publications
    VAR_011538
    Natural varianti568 – 5681I → T in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011539
    Natural varianti593 – 5931A → N in toxic thyroid adenoma; requires 2 nucleotide substitutions; somatic mutation; N-593 and N-593/E-727 constitutively activate the cAMP cascade; double mutant's specific constitutive activity is 2.3-fold lower than the N-593 mutant. 1 Publication
    VAR_021498
    Natural varianti597 – 5971V → F in HTNA; 11-fold increase in specific constitutive activity associated with reduction in receptor protein expression. 1 Publication
    VAR_021499
    Natural varianti597 – 5971V → L in hyperthyroidism; congenital with severe thyrotoxicosis. 1 Publication
    VAR_011540
    Natural varianti600 – 6001C → R in CHNG1. 1 Publication
    VAR_017297
    Natural varianti606 – 6061I → M.1 Publication
    VAR_011541
    Natural varianti619 – 6191D → G in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas. 3 Publications
    VAR_003573
    Natural varianti623 – 6231A → I in hyperthyroidism; associated with hyperfunctioning thyroid adenomas; gain of function; requires 2 nucleotide substitutions. 2 Publications
    VAR_003574
    Natural varianti623 – 6231A → V in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; gain of function. 2 Publications
    VAR_011542
    Natural varianti629 – 6291L → F in HTNA; also in hyperfunctioning thyroid adenomas and non-adenomatous nodules. 3 Publications
    VAR_003575
    Natural varianti630 – 6301I → L in hyperthyroidism; associated with hyperfunctioning thyroid adenomas. 1 Publication
    VAR_011543
    Natural varianti631 – 6311F → C in hyperthyroidism; associated with hyperfunctioning thyroid adenomas. 1 Publication
    VAR_011544
    Natural varianti631 – 6311F → L in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011545
    Natural varianti632 – 6321T → A in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning non-adenomatous nodules. 3 Publications
    VAR_011546
    Natural varianti632 – 6321T → I in HTNA; gain of function; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 7 Publications
    VAR_011547
    Natural varianti633 – 6331D → A in hyperthyroidism; associated with hyperfunctioning thyroid adenomas. 1 Publication
    VAR_011548
    Natural varianti633 – 6331D → E in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. 4 Publications
    VAR_011549
    Natural varianti633 – 6331D → H in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning insular carcinoma; with severe thyrotoxicosis; gain of function. 3 Publications
    Corresponds to variant rs28937584 [ dbSNP | Ensembl ].
    VAR_011550
    Natural varianti633 – 6331D → Y in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas. 3 Publications
    VAR_011551
    Natural varianti639 – 6391P → A in TTNs. 1 Publication
    VAR_021500
    Natural varianti639 – 6391P → S in HTNA; gain of function. 1 Publication
    VAR_011552
    Natural varianti647 – 6471A → V in HTNA; found in non-adenomatous hyperfunctioning nodules. 1 Publication
    VAR_011553
    Natural varianti650 – 6501N → Y in HTNA; gain of function. 1 Publication
    VAR_011554
    Natural varianti656 – 6561V → F in TTNs. 1 Publication
    VAR_021501
    Natural varianti658 – 6614Missing in hyperthyroidism; associated with hyperfunctioning thyroid adenomas.
    VAR_011555
    Natural varianti670 – 6701N → S in HTNA; gain of function. 1 Publication
    VAR_011556
    Natural varianti672 – 6721C → Y in HTNA; gain of function. 1 Publication
    VAR_011557
    Natural varianti677 – 6771L → V in thyroid carcinoma; with thyrotoxicosis; gain of function. 1 Publication
    VAR_011558
    Natural varianti703 – 7031A → G.1 Publication
    VAR_011559
    Natural varianti715 – 7151N → D in papillary cancer. 1 Publication
    VAR_003576
    Natural varianti720 – 7201Q → E.1 Publication
    VAR_011560
    Natural varianti723 – 7231K → M in papillary cancer. 1 Publication
    VAR_003577
    Natural varianti727 – 7271D → E May be a predisposing factor in toxic multinodular goiter pathogenesis; activation of the cAMP cascade does not differ from the wild-type. 7 Publications
    Corresponds to variant rs1991517 [ dbSNP | Ensembl ].
    VAR_003578

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei232 – 27443DVSQT…LHLTR → VENVAVSGKGFCKSLFSWLY RLPLGRKSLSFETQKAPRSS MPS in isoform 3. 1 PublicationVSP_044643Add
    BLAST
    Alternative sequencei232 – 25322DVSQT…LKELI → LPLGRKSLSFETQKAPRSSM PS in isoform Short. 3 PublicationsVSP_001981Add
    BLAST
    Alternative sequencei254 – 764511Missing in isoform Short. 3 PublicationsVSP_001982Add
    BLAST
    Alternative sequencei275 – 764490Missing in isoform 3. 1 PublicationVSP_044644Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M31774 mRNA. Translation: AAA36783.1.
    M32215 mRNA. Translation: AAA61236.1.
    M73747 mRNA. Translation: AAA70232.1. Frameshift.
    S45272 mRNA. Translation: AAB23390.2.
    S49816 mRNA. Translation: AAB24246.1.
    AY429111 mRNA. Translation: AAR07906.1.
    AC007262 Genomic DNA. Translation: AAD31568.1.
    AC010072 Genomic DNA. Translation: AAF09032.1.
    AC010582 Genomic DNA. Translation: AAF26775.1.
    AL136040 Genomic DNA. No translation available.
    BC009237 mRNA. Translation: AAH09237.1.
    BC024205 mRNA. Translation: AAH24205.1.
    BC063613 mRNA. Translation: AAH63613.1.
    BC108653 mRNA. Translation: AAI08654.1.
    BC120973 mRNA. Translation: AAI20974.1.
    BC127628 mRNA. Translation: AAI27629.1.
    BC141970 mRNA. Translation: AAI41971.1.
    CCDSiCCDS32131.1. [P16473-2]
    CCDS55935.1. [P16473-3]
    CCDS9872.1. [P16473-1]
    PIRiA33789. QRHURH.
    JC1319.
    T01787.
    RefSeqiNP_000360.2. NM_000369.2.
    NP_001018046.1. NM_001018036.2. [P16473-2]
    NP_001136098.1. NM_001142626.2. [P16473-3]
    XP_005268096.1. XM_005268039.1. [P16473-2]
    XP_006720308.1. XM_006720245.1. [P16473-3]
    UniGeneiHs.160411.

    Genome annotation databases

    EnsembliENST00000342443; ENSP00000340113; ENSG00000165409. [P16473-2]
    ENST00000554435; ENSP00000450549; ENSG00000165409. [P16473-3]
    GeneIDi7253.
    KEGGihsa:7253.
    UCSCiuc001xvc.3. human. [P16473-2]

    Polymorphism databases

    DMDMi62298994.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    TSH receptor database
    GRIS

    Glycoprotein-hormone Receptors Information System

    SHMPD

    The Singapore human mutation and polymorphism database

    Wikipedia

    TSH receptor entry

    Sequence-structure-function-analysis of glycoprotein hormone receptors
    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M31774 mRNA. Translation: AAA36783.1 .
    M32215 mRNA. Translation: AAA61236.1 .
    M73747 mRNA. Translation: AAA70232.1 . Frameshift.
    S45272 mRNA. Translation: AAB23390.2 .
    S49816 mRNA. Translation: AAB24246.1 .
    AY429111 mRNA. Translation: AAR07906.1 .
    AC007262 Genomic DNA. Translation: AAD31568.1 .
    AC010072 Genomic DNA. Translation: AAF09032.1 .
    AC010582 Genomic DNA. Translation: AAF26775.1 .
    AL136040 Genomic DNA. No translation available.
    BC009237 mRNA. Translation: AAH09237.1 .
    BC024205 mRNA. Translation: AAH24205.1 .
    BC063613 mRNA. Translation: AAH63613.1 .
    BC108653 mRNA. Translation: AAI08654.1 .
    BC120973 mRNA. Translation: AAI20974.1 .
    BC127628 mRNA. Translation: AAI27629.1 .
    BC141970 mRNA. Translation: AAI41971.1 .
    CCDSi CCDS32131.1. [P16473-2 ]
    CCDS55935.1. [P16473-3 ]
    CCDS9872.1. [P16473-1 ]
    PIRi A33789. QRHURH.
    JC1319.
    T01787.
    RefSeqi NP_000360.2. NM_000369.2.
    NP_001018046.1. NM_001018036.2. [P16473-2 ]
    NP_001136098.1. NM_001142626.2. [P16473-3 ]
    XP_005268096.1. XM_005268039.1. [P16473-2 ]
    XP_006720308.1. XM_006720245.1. [P16473-3 ]
    UniGenei Hs.160411.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1XUM model - A 54-236 [» ]
    2XWT X-ray 1.90 C 22-260 [» ]
    3G04 X-ray 2.55 C 22-260 [» ]
    ProteinModelPortali P16473.
    SMRi P16473. Positions 24-305, 411-686.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113104. 11 interactions.
    STRINGi 9606.ENSP00000298171.

    Chemistry

    BindingDBi P16473.
    ChEMBLi CHEMBL1963.
    DrugBanki DB00024. Thyrotropin Alfa.
    GuidetoPHARMACOLOGYi 255.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei P16473.

    Polymorphism databases

    DMDMi 62298994.

    Proteomic databases

    PaxDbi P16473.
    PRIDEi P16473.

    Protocols and materials databases

    DNASUi 7253.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342443 ; ENSP00000340113 ; ENSG00000165409 . [P16473-2 ]
    ENST00000554435 ; ENSP00000450549 ; ENSG00000165409 . [P16473-3 ]
    GeneIDi 7253.
    KEGGi hsa:7253.
    UCSCi uc001xvc.3. human. [P16473-2 ]

    Organism-specific databases

    CTDi 7253.
    GeneCardsi GC14P081421.
    H-InvDB HIX0021925.
    HGNCi HGNC:12373. TSHR.
    HPAi CAB000473.
    HPA026680.
    MIMi 275200. phenotype.
    603372. gene+phenotype.
    603373. phenotype.
    609152. phenotype.
    neXtProti NX_P16473.
    Orphaneti 95713. Athyreosis.
    99819. Familial gestational hyperthyroidism.
    424. Familial hyperthyroidism due to mutations in TSH receptor.
    90673. Hypothyroidism due to TSH receptor mutations.
    95720. Thyroid hypoplasia.
    PharmGKBi PA37042.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285844.
    HOVERGENi HBG052887.
    InParanoidi P16473.
    KOi K04249.
    OMAi SSATIHK.
    OrthoDBi EOG73BVCG.
    PhylomeDBi P16473.

    Enzyme and pathway databases

    Reactomei REACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.
    SignaLinki P16473.

    Miscellaneous databases

    ChiTaRSi TSHR. human.
    EvolutionaryTracei P16473.
    GeneWikii Thyrotropin_receptor.
    GenomeRNAii 7253.
    NextBioi 28361.
    PROi P16473.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P16473.
    Bgeei P16473.
    CleanExi HS_TSHR.
    Genevestigatori P16473.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002131. Gphrmn_rcpt_fam.
    IPR001611. Leu-rich_rpt.
    IPR026906. LRR_5.
    IPR002274. TSH_rcpt.
    [Graphical view ]
    PANTHERi PTHR24372. PTHR24372. 1 hit.
    PTHR24372:SF0. PTHR24372:SF0. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    PF13306. LRR_5. 1 hit.
    PF13855. LRR_8. 1 hit.
    [Graphical view ]
    PRINTSi PR00373. GLYCHORMONER.
    PR00237. GPCRRHODOPSN.
    PR01145. TSHRECEPTOR.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor."
      Nagayama Y., Kaufman K.D., Seto P., Rapoport B.
      Biochem. Biophys. Res. Commun. 165:1184-1190(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
    2. "Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies."
      Libert F., Lefort A., Gerard C., Parmentier M., Perret J., Ludgate M., Dumont J.E., Vassart G.
      Biochem. Biophys. Res. Commun. 165:1250-1255(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), TISSUE SPECIFICITY.
      Tissue: Thyroid.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT GLU-727.
    4. "Isolation of TSH and LH/CG receptor cDNAs from human thyroid: regulation by tissue specific splicing."
      Frazier A.L., Robbins L.S., Stork P.J., Sprengel R., Segaloff D.L., Cone R.D.
      Mol. Endocrinol. 4:1264-1276(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
      Tissue: Thyroid.
    5. "Cloning and sequencing of a 1.3 KB variant of human thyrotropin receptor mRNA lacking the transmembrane domain."
      Graves P.N., Tomer Y., Davies T.F.
      Biochem. Biophys. Res. Commun. 187:1135-1143(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    6. "Molecular cloning and sequencing of an alternatively spliced form of the human thyrotropin receptor transcript."
      Takeshita A., Nagayama Y., Fujiyama K., Yokoyama N., Namba H., Yamashita S., Izumi M., Nagataki S.
      Biochem. Biophys. Res. Commun. 188:1214-1219(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
      Tissue: Thyroid.
    7. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Kopatz S.A., Aronstam R.S., Sharma S.V.
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
      Tissue: Thyroid.
    8. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-727.
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SHORT AND 3).
      Tissue: Ovarian adenocarcinoma.
    10. "Purification and characterization of a soluble bioactive amino-terminal extracellular domain of the human thyrotropin receptor."
      Cornelis S., Uttenweiler-Joseph S., Panneels V., Vassart G., Costagliola S.
      Biochemistry 40:9860-9869(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 66-80; 113-123; 184-210 AND 294-310, GLYCOSYLATION AT ASN-77; ASN-113; ASN-198 AND ASN-302.
    11. "Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor."
      Nakabayashi K., Matsumi H., Bhalla A., Bae J., Mosselman S., Hsu S.Y., Hsueh A.J.W.
      J. Clin. Invest. 109:1445-1452(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH GPA2/GPB5.
    12. "Thyrotropin receptor trafficking relies on the hScrib-betaPIX-GIT1-ARF6 pathway."
      Lahuna O., Quellari M., Achard C., Nola S., Meduri G., Navarro C., Vitale N., Borg J.-P., Misrahi M.
      EMBO J. 24:1364-1374(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SCRIB.
    13. "Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions."
      Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H., Hendrickson W.A., el Tayar N.
      Structure 3:1341-1353(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 54-236.
    14. Cited for: X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 22-260 IN COMPLEX WITH ANTIBODY, GLYCOSYLATION AT ASN-77; ASN-99; ASN-113; ASN-177 AND ASN-198, N-TERMINAL DISULFIDE BOND.
    15. "Further studies of genetic susceptibility to Graves' disease in a Russian population."
      Chistiakov D.A., Savost'anov K.V., Turakulov R.I., Petunina N., Balabolkin M.I., Nosikov V.V.
      Med. Sci. Monit. 8:CR180-CR184(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: ANALYSIS OF INVOLVEMENT OF VARIANT GLU-727 IN GRAVES DISEASE.
    16. "A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease."
      Ban Y., Greenberg D.A., Concepcion E.S., Tomer Y.
      Thyroid 12:1079-1083(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: ANALYSIS OF INVOLVEMENT OF VARIANT GLU-727 IN GRAVES DISEASE.
    17. "Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins."
      Ho S.-C., Goh S.-S., Khoo D.H.
      Thyroid 13:523-528(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: ANALYSIS OF INVOLVEMENT OF VARIANTS HIS-36; THR-52 AND GLU-727 IN GRAVES DISEASE.
    18. "The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations."
      Farid N.R., Kascur V., Balazs C.
      Eur. J. Endocrinol. 143:25-30(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    19. "A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism."
      Heldin N.-E., Gustavsson B., Westermark K., Westermark B.
      J. Clin. Endocrinol. Metab. 73:1374-1376(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HIS-36.
    20. "Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas."
      Parma J., Duprez L., van Sande J., Cochaux P., Gervy C., Mockel J., Dumont J.E., Vassart G.
      Nature 365:649-651(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYPERTHYROIDISM GLY-619 AND ILE-623.
    21. "A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy."
      Bahn R.S., Dutton C.M., Heufelder A.E., Sarkar G.
      J. Clin. Endocrinol. Metab. 78:256-260(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-52.
    22. "Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy."
      Porcellini A., Ciullo I., Laviola L., Amabile G., Fenzi G., Avvedimento V.E.
      J. Clin. Endocrinol. Metab. 79:657-661(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYPERTHYROIDISM CYS-631; ILE-632; GLU-633 AND TYR-633.
    23. "Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid."
      Paschke R., Tonacchera M., van Sande J., Parma J., Vassart G.
      J. Clin. Endocrinol. Metab. 79:1785-1789(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYPERTHYROIDISM VAL-623 AND ILE-632.
    24. "Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism."
      Duprez L., Parma J., van Sande J., Allgeier A., Leclere J., Schvartz C., Delisle M.-J., Decoulx M., Orgiazzi J., Dumont J.E., Vassart G.
      Nat. Genet. 7:396-401(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HTNA ALA-509 AND TYR-672.
    25. "Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease."
      Gustavsson B., Eklof C., Westermark K., Westermark B., Heldin N.-E.
      Mol. Cell. Endocrinol. 111:167-173(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT HIS-36.
    26. "Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene."
      Kopp P., van Sande J., Parma J., Duprez L., Gerber H., Joss E., Jameson J.L., Dumont J.E., Vassart G.
      N. Engl. J. Med. 332:150-154(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA LEU-631.
    27. "Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene."
      Sunthornthepvarakul T., Gottschalk M.E., Hayashi Y., Refetoff S.
      N. Engl. J. Med. 332:155-160(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CHNG1 ALA-162 AND ASN-167, VARIANT THR-52.
    28. "Point mutations in the thyrotropin receptor in human thyroid tumors."
      Ohno M., Endo T., Ohta K., Gunji K., Onaya T.
      Thyroid 5:97-100(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PAPILLARY CANCER ILE-197; GLU-219; ASP-715 AND MET-723, VARIANT GLU-727.
    29. "Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor."
      Cuddihy R.M., Bryant W.P., Bahn R.S.
      Thyroid 5:255-257(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-52.
    30. "Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia."
      Tonacchera M., van Sande J., Cetani F., Swillens S., Schvartz C., Winiszewski P., Portmann L., Dumont J.E., Vassart G., Parma J.
      J. Clin. Endocrinol. Metab. 81:547-554(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HTNA ARG-505; TYR-650 AND SER-670.
    31. "A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism."
      de Roux N., Polak M., Couet J., Leger J., Czernichow P., Milgrom E., Misrahi M.
      J. Clin. Endocrinol. Metab. 81:2023-2026(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA THR-453.
    32. Cited for: VARIANTS CHNG1 SER-41; ALA-162; TRP-390; ASN-410 AND LEU-525.
    33. "Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma."
      Russo D., Tumino S., Arturi F., Vigneri P., Grasso G., Pontecorvi A., Filetti S., Belfiore A.
      J. Clin. Endocrinol. Metab. 82:735-738(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT INSULAR CARCINOMA HIS-633.
    34. "Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH."
      Clifton-Bligh R.J., Gregory J.W., Ludgate M., John R., Persani L., Asteria C., Beck-Peccoz P., Chatterjee V.K.K.
      J. Clin. Endocrinol. Metab. 82:1094-1100(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 GLN-109.
    35. "Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas."
      Parma J., Duprez L., van Sande J., Hermans J., Rocmans P., van Vliet G., Costagliola S., Rodien P., Dumont J.E., Vassart G.
      J. Clin. Endocrinol. Metab. 82:2695-2701(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYPERTHYROIDISM ASN-281; THR-281; THR-453; PHE-486; MET-486; THR-568; GLY-619; ILE-623; PHE-629; LEU-630; LEU-631; ILE-632; ALA-633; GLU-633; HIS-633; TYR-633 AND 658-ASN--ILE-661 DEL.
    36. "Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism."
      Biebermann H., Schoeneberg T., Krude H., Schultz G., Gudermann T., Grueters A.
      J. Clin. Endocrinol. Metab. 82:3471-3480(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 TRP-390.
    37. "Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene."
      Holzapfel H.P., Wonerow P., von Petrykowski W., Henschen M., Scherbaum W.A., Paschke R.
      J. Clin. Endocrinol. Metab. 82:3879-3884(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA ASN-505.
    38. "Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism."
      Fuhrer D., Wonerow P., Willgerodt H., Paschke R.
      J. Clin. Endocrinol. Metab. 82:4234-4238(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA PHE-629.
    39. "Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland."
      Abramowicz M.J., Duprez L., Parma J., Vassart G., Heinrichs C.
      J. Clin. Invest. 99:3018-3024(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 THR-553.
    40. "Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor."
      Kopp P., Muirhead S., Jourdain N., Gu W.X., Jameson J.L., Rodd C.
      J. Clin. Invest. 100:1634-1639(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPERTHYROIDISM ILE-281.
    41. "Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene."
      Kopp P., Jameson J.L., Roe T.F.
      Thyroid 7:765-770(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA ILE-632.
    42. "Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor."
      Grueters A., Schoeneberg T., Biebermann H., Krude H., Krohn H.P., Dralle H., Gudermann T.
      J. Clin. Endocrinol. Metab. 83:1431-1436(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA ASN-281, VARIANT HIS-528.
    43. "Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin."
      Rodien P., Bremont C., Raffin Sanson M.-L., Parma J., van Sande J., Costagliola S., Luton J.-P., Vassart G., Duprez L.
      N. Engl. J. Med. 339:1823-1826(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTFG ARG-183.
    44. "A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family."
      Khoo D.H.C., Parma J., Rajasoorya C., Ho S.C., Vassart G.
      J. Clin. Endocrinol. Metab. 84:1459-1462(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA SER-639.
    45. "Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter."
      Gabriel E.M., Bergert E.R., Grant C.S., van Heerden J.A., Thompson G.B., Morris J.C.
      J. Clin. Endocrinol. Metab. 84:3328-3335(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MET-606; GLY-703; GLU-720 AND GLU-727.
    46. "A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis."
      Russo D., Wong M.G., Costante G., Chiefari E., Treseler P.A., Arturi F., Filetti S., Clark O.H.
      Thyroid 9:13-17(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THYROID CARCINOMA VAL-677.
    47. "A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis."
      Esapa C.T., Duprez L., Ludgate M., Mustafa M.S., Kendall-Taylor P., Vassart G., Harris P.E.
      Thyroid 9:1005-1010(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPERTHYROIDISM LEU-597.
    48. "A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient."
      Kosugi S., Hai N., Okamoto H., Sugawa H., Mori T.
      Eur. J. Endocrinol. 143:471-477(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPERTHYROIDISM ARG-512, CHARACTERIZATION OF VARIANT HYPERTHYROIDISM ARG-512.
    49. "Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease."
      Kaczur V., Takacs M., Szalai C., Falus A., Nagy Z., Berencsi G., Balazs C.
      Eur. J. Immunogenet. 27:17-23(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-52.
    50. "Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene."
      Tonacchera M., Agretti P., Pinchera A., Rosellini V., Perri A., Collecchi P., Vitti P., Chiovato L.
      J. Clin. Endocrinol. Metab. 85:1001-1008(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 ILE-477.
    51. "Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter."
      Tonacchera M., Agretti P., Chiovato L., Rosellini V., Ceccarini G., Perri A., Viacava P., Naccarato A.G., Miccoli P., Pinchera A., Vitti P.
      J. Clin. Endocrinol. Metab. 85:2270-2274(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HTNA ASN-281; MET-486; PHE-486; PHE-629; ALA-632; ILE-632; GLU-633 AND VAL-647.
    52. "Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population."
      Muehlberg T., Herrmann K., Joba W., Kirchberger M., Heberling H.-J., Heufelder A.E.
      J. Clin. Endocrinol. Metab. 85:2640-2643(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLU-727.
    53. "A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH."
      Russo D., Betterle C., Arturi F., Chiefari E., Girelli M.E., Filetti S.
      J. Clin. Endocrinol. Metab. 85:4238-4242(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 CYS-310.
    54. "Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood."
      Biebermann H., Schoeneberg T., Krude H., Gudermann T., Grueters A.
      Langenbecks Arch. Surg. 385:390-392(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HTNA ASN-281; SER-431 AND ILE-632.
    55. "Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene."
      Tonacchera M., Agretti P., Rosellini V., Ceccarini G., Perri A., Zampolli M., Longhi R., Larizza D., Pinchera A., Vitti P., Chiovato L.
      Thyroid 10:859-863(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA THR-568.
    56. "A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism."
      Camacho P., Gordon D., Chiefari E., Yong S., DeJong S., Pitale S., Russo D., Filetti S.
      Thyroid 10:1009-1012(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FOLLICULAR CARCINOMA PHE-486.
    57. "Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism."
      Fuhrer D., Warner J., Sequeira M., Paschke R., Gregory J.W., Ludgate M.
      Thyroid 10:1035-1041(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA VAL-463.
    58. "A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism."
      Alberti L., Proverbio M.C., Costagliola S., Weber G., Beck-Peccoz P., Chiumello G., Persani L.
      Eur. J. Endocrinol. 145:249-254(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA PHE-597, CHARACTERIZATION OF VARIANT HTNA PHE-597.
    59. "The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism."
      Biebermann H., Schoeneberg T., Hess C., Germak J., Gudermann T., Grueters A.
      J. Clin. Endocrinol. Metab. 86:4429-4433(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA SER-431, CHARACTERIZATION OF VARIANT HTNA SER-431.
    60. "Detection of thyroid-stimulating hormone receptor and G(s)alpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis."
      Truelzsch B., Krohn K., Wonerow P., Chey S., Holzapfel H.-P., Ackermann F., Fuehrer D., Paschke R.
      J. Mol. Med. 78:684-691(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TTNS ASN-281; ILE-425; THR-453; PHE-486; ASN-505; ARG-512; GLN-512; THR-568; GLY-619; VAL-623; LEU-631; ALA-632; ILE-632; GLU-633; HIS-633; TYR-633; ALA-639 AND PHE-656, CHARACTERIZATION OF VARIANTS TTNS ILE-425 AND GLN-512.
    61. "Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin."
      Nagashima T., Murakami M., Onigata K., Morimura T., Nagashima K., Mori M., Morikawa A.
      Thyroid 11:551-559(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CHNG1 HIS-450 AND SER-498.
    62. "Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population."
      Vanvooren V., Uchino S., Duprez L., Costa M.J., Vandekerckhove J., Parma J., Vassart G., Dumont J.E., van Sande J., Noguchi S.
      Eur. J. Endocrinol. 147:287-291(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HYPERTHYROIDISM THR-453; MET-486; ARG-512 AND ALA-632.
    63. Cited for: VARIANTS CHNG1 SER-41; ALA-162; PRO-467 AND ARG-600.
    64. Cited for: VARIANT TOXIC THYROID ADENOMA ASN-593, VARIANT GLU-727, CHARACTERIZATION OF VARIANTS TOXIC THYROID ADENOMA ASN-593 AND ASN-593/GLU-727, CHARACTERIZATION OF VARIANT GLU-727.
    65. "Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects."
      Peeters R.P., van Toor H., Klootwijk W., de Rijke Y.B., Kuiper G.G.J.M., Uitterlinden A.G., Visser T.J.
      J. Clin. Endocrinol. Metab. 88:2880-2888(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-36; THR-52 AND GLU-727, ASSOCIATION WITH PLASMA TSH LEVEL.
    66. "TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism."
      Tonacchera M., Perri A., De Marco G., Agretti P., Montanelli L., Banco M.E., Corrias A., Bellone J., Tosi M.T., Vitti P., Martino E., Pinchera A., Chiovato L.
      J. Endocrinol. Invest. 26:997-1000(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-36 AND THR-52, RECEPTOR GENETIC ANALYSIS IN CHILDREN WITH DOWN'S SYNDROME.
    67. "Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor."
      Park S.-M., Clifton-Bligh R.J., Betts P., Chatterjee V.K.K.
      Clin. Endocrinol. (Oxf.) 60:220-227(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG1 THR-553.
    68. "Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation."
      Vaidya B., Campbell V., Tripp J.H., Spyer G., Hattersley A.T., Ellard S.
      Clin. Endocrinol. (Oxf.) 60:711-718(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HTNA ASN-505.
    69. "Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism."
      Tonacchera M., Perri A., De Marco G., Agretti P., Banco M.E., Di Cosmo C., Grasso L., Vitti P., Chiovato L., Pinchera A.
      J. Clin. Endocrinol. Metab. 89:5787-5793(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CHNG1 ALA-162 AND PRO-252, CHARACTERIZATION OF VARIANT CHNG1 PRO-252.

    Entry informationi

    Entry nameiTSHR_HUMAN
    AccessioniPrimary (citable) accession number: P16473
    Secondary accession number(s): A0PJU7
    , F5GYU5, G3V2A9, Q16503, Q8TB90, Q96GT6, Q9P1V4, Q9ULA3, Q9UPH3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1990
    Last sequence update: March 29, 2005
    Last modified: October 1, 2014
    This is version 182 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3