Homo sapiens Protein: TG | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-36159.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TG | ||||||||||||||||||
Protein Name | thyroglobulin | ||||||||||||||||||
Synonyms | AITD3; TGN; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000220616 | ||||||||||||||||||
InnateDB Gene | IDBG-36157 (TG) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). | ||||||||||||||||||
Subcellular Localization | Secreted. | ||||||||||||||||||
Disease Associations | Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]: A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. {ECO:0000269PubMed:10199792, ECO:0000269PubMed:16477365, ECO:0000269PubMed:17244789, ECO:0000269PubMed:17532758, ECO:0000269PubMed:19509106}. Note=The disease is caused by mutations affecting the gene represented in this entry.Autoimmune thyroid disease 3 (AITD3) [MIM:608175]: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid- infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. {ECO:0000269PubMed:14657345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Thyroid gland specific. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000716
Thyroglobulin type-1 IPR002018 Carboxylesterase, type B IPR011641 Tyrosine-protein kinase ephrin type A/B receptor-like IPR016324 Thyroglobulin IPR029058 Alpha/Beta hydrolase fold |
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PFAM |
PF00086
PF00135 PF07699 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF001831
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SMART |
SM00211
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P01266 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P01266 | ||||||||||||||||||
TrEMBL | Q9NYM1 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 7038 | ||||||||||||||||||
UniGene | Hs.654591 | ||||||||||||||||||
RefSeq | NP_003226 | ||||||||||||||||||
HUGO | HGNC:11764 | ||||||||||||||||||
OMIM | 188450 | ||||||||||||||||||
CCDS | CCDS34944 | ||||||||||||||||||
HPRD | 01782 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF080472 AF080473 AF080474 AF080475 AF080476 AF080477 AF080478 AF080479 AF080480 AF080481 AF080482 AF080483 AF080484 AF169654 AF169655 AF169656 AF169657 AF169658 AF169659 AF169661 AF169662 AF169663 AF169664 AF230666 AF230667 AF235100 AF237421 AF255396 AF305872 AH007064 AH008122 S40807 U93033 X02154 X02749 X05615 X06059 X06060 X06061 X06062 X06063 X06064 X06065 X06066 X06067 X06068 X06069 X06070 | ||||||||||||||||||
GenPept | AAB22685 AAC51924 AAC95473 AAD50912 AAD51647 AAF64045 AAF71743 CAA26089 CAA26527 CAA29104 CAA29454 CAA29455 CAA29456 | ||||||||||||||||||