Thyroglobulin
Relationship
Comment
Only the C-terminal part of thyroglobulin is a member of the alpha/beta hydrolase family, here starting with the first G in cholinesterase 2206 (aa numbering in human thyroglobulin). The N-terminal part of thyroglobulin is made of three domains, labeled I to III, that encompass 10 repeats of a ca. 65 amino acid residues known as the Tg type-1 repeat PF00086 PS00484 IPR011641 IPR000716 not included in ESTHER.
Thyroglobulin is the glycoprotein precursor to the thyroid hormones T3 (triiodothyronine) and T4 (tetraiodothyronine). It has a molecular mass of 660 kD, with 2 identical subunits, yet its complete hydrolysis yields only 2 to 4 molecules of T3 and T4. The protein contains a 19-amino acid signal peptide followed by 2,748 residues. Van Ommen (1987) suggested that defects in the TG gene can cause either dominant or recessive disorders depending on the nature of the defect. When the gene is absent or at least when no thyroglobulin is synthesized, the disorder is likely to be recessive, whereas the presence of an abnormal subunit leads to a dominantly inherited disorder. The explanation for this is that in a dimeric protein such as thyroglobulin, 75% of the dimers in heterozygotes will contain 1 or more abnormal subunits. This should profoundly disturb thyroglobulin metabolism, since this protein fulfills a dual storage/catalytic role as a dimer, is present in bulk quantities (100 mg Tg/g thyroid mass), and needs to be exocytosed, iodinated, endocytosed, and degraded. EnsemblClone AF230666, EnsemblContig AC079020.2.132816.152274, AF235100_2 gene chromosome 8 clone PAC 98A24 map 8q24.3. there is a small gene with only a little bit of thyroglobuline just 3' of the real gene AC069434.7.189089.192039 ENST00000254617 ENSG00000132287. Three out of five iodination sites are in the cholinesterase homologous domain 2573 (In T4), 2587 (In T4),2766 (In T3) Database
Interpro : IPR016324 Thyroglobulin , IPR002018 Carboxylesterase, type B
PIRSF : PIRSF005676 COesterase
Pdoc : PDOC00112
Pfam : PF00135 COesterase
Prints : No Print
EC Number : No EC Number
References (31)
| Title : Formation of thyroid hormone revealed by a cryo-EM structure of native bovine thyroglobulin - Marechal_2022_Nat.Commun_13_2380 |
| Author(s) : Marechal N , Serrano BP , Zhang X , Weitz CJ |
| Ref : Nat Commun , 13 :2380 , 2022 |
| Abstract : Marechal_2022_Nat.Commun_13_2380 |
| ESTHER : Marechal_2022_Nat.Commun_13_2380 |
| PubMedSearch : Marechal_2022_Nat.Commun_13_2380 |
| PubMedID: 35501346 |
| Gene_locus related to this paper: bovin-thyro |
| Title : The structure of human thyroglobulin - Coscia_2020_Nature__ |
| Author(s) : Coscia F , Taler-Vercic A , Chang VT , Sinn L , O'Reilly FJ , Izore T , Renko M , Berger I , Rappsilber J , Turk D , Lowe J |
| Ref : Nature , : , 2020 |
| Abstract : Coscia_2020_Nature__ |
| ESTHER : Coscia_2020_Nature__ |
| PubMedSearch : Coscia_2020_Nature__ |
| PubMedID: 32025030 |
| Gene_locus related to this paper: human-TG |
| Title : The role of thyroglobulin in thyroid hormonogenesis - Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| Author(s) : Citterio CE , Targovnik HM , Arvan P |
| Ref : Nat Rev Endocrinol , 15 :323 , 2019 |
| Abstract : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| ESTHER : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| PubMedSearch : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| PubMedID: 30886364 |
| Title : Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine - Citterio_2018_J.Biol.Chem_293_4860 |
| Author(s) : Citterio CE , Morishita Y , Dakka N , Veluswamy B , Arvan P |
| Ref : Journal of Biological Chemistry , 293 :4860 , 2018 |
| Abstract : Citterio_2018_J.Biol.Chem_293_4860 |
| ESTHER : Citterio_2018_J.Biol.Chem_293_4860 |
| PubMedSearch : Citterio_2018_J.Biol.Chem_293_4860 |
| PubMedID: 29440273 |
| Title : Thyroglobulin Represents a Novel Molecular Architecture of Vertebrates - Holzer_2016_J.Biol.Chem_291_16553 |
| Author(s) : Holzer G , Morishita Y , Fini JB , Lorin T , Gillet B , Hughes S , Tohme M , Deleage G , Demeneix B , Arvan P , Laudet V |
| Ref : Journal of Biological Chemistry , 291 :16553 , 2016 |
| Abstract : Holzer_2016_J.Biol.Chem_291_16553 |
| ESTHER : Holzer_2016_J.Biol.Chem_291_16553 |
| PubMedSearch : Holzer_2016_J.Biol.Chem_291_16553 |
| PubMedID: 27311711 |
| Title : Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 - Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| Author(s) : Machiavelli GA , Caputo M , Rivolta CM , Olcese MC , Gruneiro-Papendieck L , Chiesa A , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 72 :112 , 2010 |
| Abstract : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| ESTHER : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene - Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| Author(s) : Caputo M , Rivolta CM , Esperante SA , Gruneiro-Papendieck L , Chiesa A , Pellizas CG , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 67 :351 , 2007 |
| Abstract : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| ESTHER : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedID: 17532758 |
| Gene_locus related to this paper: human-TG |
| Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| Author(s) : Hishinuma A , Fukata S , Nishiyama S , Nishi Y , Oh-Ishi M , Murata Y , Ohyama Y , Matsuura N , Kasai K , Harada S , Kitanaka S , Takamatsu J , Kiwaki K , Ohye H , Uruno T , Tomoda C , Tajima T , Kuma K , Miyauchi A , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 91 :3100 , 2006 |
| Abstract : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| ESTHER : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |
| Title : Two distinct compound heterozygous constellations (R277X\/IVS34-1G>C and R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| Author(s) : Gutnisky VJ , Moya CM , Rivolta CM , Domene S , Varela V , Toniolo JV , Medeiros-Neto G , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 89 :646 , 2004 |
| Abstract : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| ESTHER : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedID: 14764776 |
| Gene_locus related to this paper: human-TG |
| Title : Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism - Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| Author(s) : Caron P , Moya CM , Malet D , Gutnisky VJ , Chabardes B , Rivolta CM , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 88 :3546 , 2003 |
| Abstract : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| ESTHER : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedSearch : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedID: 12915634 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene - Targovnik_2001_Thyroid_11_685 |
| Author(s) : Targovnik HM , Rivolta CM , Mendive FM , Moya CM , Vono J , Medeiros-Neto G |
| Ref : Thyroid , 11 :685 , 2001 |
| Abstract : Targovnik_2001_Thyroid_11_685 |
| ESTHER : Targovnik_2001_Thyroid_11_685 |
| PubMedSearch : Targovnik_2001_Thyroid_11_685 |
| PubMedID: 11484898 |
| Gene_locus related to this paper: human-TG |
| Title : A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat - Kim_2000_Mol.Endocrinol_14_1944 |
| Author(s) : Kim PS , Ding M , Menon S , Jung CG , Cheng JM , Miyamoto T , Li B , Furudate S , Agui T |
| Ref : Mol Endocrinol , 14 :1944 , 2000 |
| Abstract : Kim_2000_Mol.Endocrinol_14_1944 |
| ESTHER : Kim_2000_Mol.Endocrinol_14_1944 |
| PubMedSearch : Kim_2000_Mol.Endocrinol_14_1944 |
| PubMedID: 11117525 |
| Gene_locus related to this paper: ratno-thyro |
| Title : A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog\/cog mouse: a model of human endoplasmic reticulum storage diseases - Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| Author(s) : Kim PS , Hossain SA , Park YN , Lee I , Yoo SE , Arvan P |
| Ref : Proc Natl Acad Sci U S A , 95 :9909 , 1998 |
| Abstract : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| ESTHER : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| PubMedSearch : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| PubMedID: 9707574 |
| Gene_locus related to this paper: mouse-thyro |
| Title : The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells - van de Graaf_1997_Eur.J.Endocrinol_136_508 |
| Author(s) : van de Graaf SA , Pauws E , de Vijlder JJ , Ris-Stalpers C , Ris-Stalpers CR |
| Ref : European Journal of Endocrinology , 136 :508 , 1997 |
| Abstract : van de Graaf_1997_Eur.J.Endocrinol_136_508 |
| ESTHER : van de Graaf_1997_Eur.J.Endocrinol_136_508 |
| PubMedSearch : van de Graaf_1997_Eur.J.Endocrinol_136_508 |
| PubMedID: 9186272 |
| Gene_locus related to this paper: human-TG |
| Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995 |
| Abstract : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| ESTHER : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedID: 7593451 |
| Gene_locus related to this paper: human-TG |
| Title : A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger - Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| Author(s) : Targovnik HM , Medeiros-Neto G , Varela V , Cochaux P , Wajchenberg BL , Vassart G |
| Ref : J Clinical Endocrinology Metab , 77 :210 , 1993 |
| Abstract : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| ESTHER : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedID: 8325944 |
| Gene_locus related to this paper: human-TG |
| Title : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901 |
| Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G |
| Ref : J Clinical Investigation , 88 :1901 , 1991 |
| Abstract : Ieiri_1991_J.Clin.Invest_88_1901 |
| ESTHER : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedID: 1752952 |
| Title : Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog\/cog) in mice - Adkison_1990_J.Endocrinol_126_51 |
| Author(s) : Adkison LR , Taylor S , Beamer WG |
| Ref : J Endocrinol , 126 :51 , 1990 |
| Abstract : Adkison_1990_J.Endocrinol_126_51 |
| ESTHER : Adkison_1990_J.Endocrinol_126_51 |
| PubMedSearch : Adkison_1990_J.Endocrinol_126_51 |
| PubMedID: 1696305 |
| Title : Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis - Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| Author(s) : Targovnik H , Propato F , Varela V , Wajchenberg B , Knobel M , D'Abronzo HF , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 69 :1137 , 1989 |
| Abstract : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| ESTHER : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedSearch : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedID: 2584351 |
| Title : Consensus sequences for early iodination and hormonogenesis in human thyroglobulin - Lamas_1989_J.Biol.Chem_264_13541 |
| Author(s) : Lamas L , Anderson PC , Fox JW , Dunn JT |
| Ref : Journal of Biological Chemistry , 264 :13541 , 1989 |
| Abstract : Lamas_1989_J.Biol.Chem_264_13541 |
| ESTHER : Lamas_1989_J.Biol.Chem_264_13541 |
| PubMedSearch : Lamas_1989_J.Biol.Chem_264_13541 |
| PubMedID: 2760035 |
| Gene_locus related to this paper: human-TG |
| Title : A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts - Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| Author(s) : Ricketts MH , Simons MJ , Parma J , Mercken L , Dong Q , Vassart G |
| Ref : Proc Natl Acad Sci U S A , 84 :3181 , 1987 |
| Abstract : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| ESTHER : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| PubMedSearch : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| PubMedID: 3472203 |
| Title : Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and exonization during evolution - Parma_1987_J.Mol.Biol_196_769 |
| Author(s) : Parma J , Christophe D , Pohl V , Vassart G |
| Ref : Journal of Molecular Biology , 196 :769 , 1987 |
| Abstract : Parma_1987_J.Mol.Biol_196_769 |
| ESTHER : Parma_1987_J.Mol.Biol_196_769 |
| PubMedSearch : Parma_1987_J.Mol.Biol_196_769 |
| PubMedID: 3681978 |
| Gene_locus related to this paper: bovin-thyro , human-TG |
| Title : Autosomal recessive inheritance of goiter in Dutch goats - Kok_1987_J.Hered_78_298 |
| Author(s) : Kok K , van Dijk JE , Sterk A , Baas F , van Ommen GJ , de Vijlder JJ |
| Ref : Journal of Heredity , 78 :298 , 1987 |
| Abstract : Kok_1987_J.Hered_78_298 |
| ESTHER : Kok_1987_J.Hered_78_298 |
| PubMedSearch : Kok_1987_J.Hered_78_298 |
| PubMedID: 3680925 |
| Title : Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA - Malthiery_1987_Eur.J.Biochem_165_491 |
| Author(s) : Malthiery Y , Lissitzky S |
| Ref : European Journal of Biochemistry , 165 :491 , 1987 |
| Abstract : Malthiery_1987_Eur.J.Biochem_165_491 |
| ESTHER : Malthiery_1987_Eur.J.Biochem_165_491 |
| PubMedSearch : Malthiery_1987_Eur.J.Biochem_165_491 |
| PubMedID: 3595599 |
| Gene_locus related to this paper: human-TG |
| Title : The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb - Baas_1986_Nucleic.Acids.Res_14_5171 |
| Author(s) : Baas F , van Ommen GJ , Bikker H , Arnberg AC , de Vijlder JJ |
| Ref : Nucleic Acids Research , 14 :5171 , 1986 |
| Abstract : Baas_1986_Nucleic.Acids.Res_14_5171 |
| ESTHER : Baas_1986_Nucleic.Acids.Res_14_5171 |
| PubMedSearch : Baas_1986_Nucleic.Acids.Res_14_5171 |
| PubMedID: 3016640 |
| Title : The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat - Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| Author(s) : Brocas H , Szpirer J , Lebo RV , Levan G , Szpirer C , Cheung MC , Vassart G |
| Ref : Cytogenet Cell Genet , 39 :150 , 1985 |
| Abstract : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| ESTHER : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| PubMedSearch : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| PubMedID: 4006519 |
| Title : Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization - Avvedimento_1985_Hum.Genet_71_163 |
| Author(s) : Avvedimento VE , Di Lauro R , Monticelli A , Bernardi F , Patracchini P , Calzolari E , Martini G , Varrone S |
| Ref : Hum Genet , 71 :163 , 1985 |
| Abstract : Avvedimento_1985_Hum.Genet_71_163 |
| ESTHER : Avvedimento_1985_Hum.Genet_71_163 |
| PubMedSearch : Avvedimento_1985_Hum.Genet_71_163 |
| PubMedID: 4043966 |
| Title : Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle - Ricketts_1985_EMBO.J_4_731 |
| Author(s) : Ricketts MH , Pohl V , de Martynoff G , Boyd CD , Bester AJ , Van Jaarsveld PP , Vassart G |
| Ref : EMBO Journal , 4 :731 , 1985 |
| Abstract : Ricketts_1985_EMBO.J_4_731 |
| ESTHER : Ricketts_1985_EMBO.J_4_731 |
| PubMedSearch : Ricketts_1985_EMBO.J_4_731 |
| PubMedID: 2988933 |
| Title : Autosomal dominant inheritance of a thyroglobulin abnormality suggests cooperation of sub-units in hormone formation - |
| Author(s) : De Vijlder JJM , Baas F , Koch CAM , Kok K , Gons M |
| Ref : Ann Endocrinol (Paris) , 44 :36 , 1983 |
| PubMedID: |
| Title : Defective thyroglobulin export as a cause of congenital goitre - Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| Author(s) : Lissitzky S , Torresani J , Burrow GN , Bouchilloux S , Chabaud O |
| Ref : Clinical Endocrinology (Oxf) , 4 :363 , 1975 |
| Abstract : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| ESTHER : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| PubMedSearch : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| PubMedID: 1157342 |
| Title : A goitrous subject with structural abnormality of thyroglobulin - |
| Author(s) : Kusakabe T |
| Ref : J Clinical Endocrinology Metab , 35 :785 , 1972 |
| PubMedID: 4628864 |
Structures (4)
Genes Proteins in Thyroglobulin family (68)
Fragments of genes in Thyroglobulin family (37)
Structures in Thyroglobulin family (4)No substrate
No Inhibitor