Human Gene TG (ENST00000220616.9) from GENCODE V44
Description: Homo sapiens thyroglobulin (TG), mRNA. (from RefSeq NM_003235) RefSeq Summary (NM_003235): Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]. Gencode Transcript: ENST00000220616.9 Gencode Gene: ENSG00000042832.12 Transcript (Including UTRs) Position: hg38 chr8:132,866,958-133,134,899 Size: 267,942 Total Exon Count: 48 Strand: + Coding Region Position: hg38 chr8:132,867,001-133,134,794 Size: 267,794 Coding Exon Count: 48
ID:THYG_HUMAN DESCRIPTION: RecName: Full=Thyroglobulin; Short=Tg; Flags: Precursor; FUNCTION: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Thyroid gland specific. PTM: Sulfated tyrosines are desulfated during iodination. DISEASE: Defects in TG are the cause of 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. DISEASE: Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175]. AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic factors, such as infection. SIMILARITY: Belongs to the type-B carboxylesterase/lipase family. SIMILARITY: Contains 11 thyroglobulin type-1 domains. WEB RESOURCE: Name=Wikipedia; Note=Thyroglobulin entry; URL="http://en.wikipedia.org/wiki/Thyroglobulin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00135 - Carboxylesterase family PF07699 - Putative ephrin-receptor like PF00086 - Thyroglobulin type-1 repeat
ModBase Predicted Comparative 3D Structure on P01266
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007165 signal transduction GO:0010469 regulation of receptor activity GO:0015705 iodide transport GO:0030878 thyroid gland development GO:0031641 regulation of myelination GO:0042403 thyroid hormone metabolic process GO:0042446 hormone biosynthetic process
Cellular Component: GO:0005576 extracellular region GO:0005615 extracellular space
Descriptions from all associated GenBank mRNAs
AK303666 - Homo sapiens cDNA FLJ61525 complete cds, highly similar to Thyroglobulin precursor. X05615 - Human mRNA for thyroglobulin. BC140933 - Homo sapiens thyroglobulin, mRNA (cDNA clone MGC:176610 IMAGE:9056745), complete cds. U93033 - Homo sapiens thyroglobulin (TG) mRNA, complete cds. AB209159 - Homo sapiens mRNA for Thyroglobulin precursor variant protein. AK303667 - Homo sapiens cDNA FLJ50344 complete cds, highly similar to Thyroglobulin precursor. AK299197 - Homo sapiens cDNA FLJ51282 complete cds, highly similar to Thyroglobulin precursor. BC127887 - Homo sapiens thyroglobulin, mRNA (cDNA clone IMAGE:40133565), partial cds. X02154 - Human mRNA for thyroglobulin N-terminal region (clone 2). S40807 - thyroglobulin {alternatively spliced} [human, thyroid, mRNA Partial, 126 nt]. S80793 - Tg=thyroglobulin [human, congenital goiter patient HSN, thyroid tissue, mRNA Partial Mutant, 186 nt].
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa05320 - Autoimmune thyroid disease