Human Gene TTR (ENST00000237014.8) from GENCODE V44
Description: Homo sapiens transthyretin (TTR), mRNA. (from RefSeq NM_000371) RefSeq Summary (NM_000371): This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]. Gencode Transcript: ENST00000237014.8 Gencode Gene: ENSG00000118271.12 Transcript (Including UTRs) Position: hg38 chr18:31,591,877-31,598,821 Size: 6,945 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr18:31,591,903-31,598,675 Size: 6,773 Coding Exon Count: 4
ID:TTHY_HUMAN DESCRIPTION: RecName: Full=Transthyretin; AltName: Full=ATTR; AltName: Full=Prealbumin; AltName: Full=TBPA; Flags: Precursor; FUNCTION: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. SUBUNIT: Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can accommodate two ligand molecules. Interacts with RBP4. SUBCELLULAR LOCATION: Secreted. Cytoplasm. TISSUE SPECIFICITY: Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. DOMAIN: Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid. Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex beta-sheets of the dimers to form an internal channel. PTM: Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B- containing OST complex, leading to its degradation by the ER- associated degradation (ERAD) pathway. DISEASE: Defects in TTR are the cause of amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]. A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. DISEASE: Defects in TTR are a cause of hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]. It is a condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. DISEASE: Defects in TTR are a cause of carpal tunnel syndrome type 1 (CTS1) [MIM:115430]. It is a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. MISCELLANEOUS: Tetramer dissociation and partial unfolding leads to the formation of aggregates and amyloid fibrils. Small molecules that occupy at least one of the thyroid hormone binding sites stabilize the tetramer, and thereby stabilize the native state and protect against misfolding and the formation of amyloid fibrils. MISCELLANEOUS: Two binding sites for thyroxine are located in the channel. Less than 1% of plasma prealbumin molecules are normally involved in thyroxine transport. L-thyroxine binds to the transthyretin by an order of magnitude stronger than does the triiodo-L-thyronine. Thyroxine-binding globulin is the major carrier protein for thyroid hormones in man. MISCELLANEOUS: About 40% of plasma transthyretin circulates in a tight protein-protein complex with the plasma retinol-binding protein (RBP). The formation of the complex with RBP stabilizes the binding of retinol to RBP and decreases the glomerular filtration and renal catabolism of the relatively small RBP molecule. There is evidence for 2 binding sites for RBP, one possibly being a region that includes Ile-104, located on the outer surface of the transthyretin molecule. SIMILARITY: Belongs to the transthyretin family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTR"; WEB RESOURCE: Name=Wikipedia; Note=Transthyretin entry; URL="http://en.wikipedia.org/wiki/Transthyretin";
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.
ModBase Predicted Comparative 3D Structure on P02766
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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.
JA482083 - Sequence 66 from Patent WO2011072091. JE980375 - Sequence 66 from Patent EP2862929. AK312051 - Homo sapiens cDNA, FLJ92332, Homo sapiens transthyretin (prealbumin, amyloidosis type I) (TTR),mRNA. E00722 - cDNA lnueding pre-albumin of human liver. BC005310 - Homo sapiens transthyretin, mRNA (cDNA clone MGC:12385 IMAGE:4071761), complete cds. GU727633 - Homo sapiens epididymis tissue sperm binding protein Li 4a mRNA, complete cds. D00096 - Homo sapiens mRNA for prealbumin, complete cds. K02091 - Human prealbumin mRNA, complete cds. E01963 - DNA encoding prealbumin. BC020791 - Homo sapiens transthyretin, mRNA (cDNA clone MGC:23689 IMAGE:4734010), complete cds. M10605 - Human prealbumin mRNA, complete cds. X59498 - H.sapiens ttr mRNA for transthyretin. LG043851 - KR 1020150007359-A/779: Compositions and methods for inhibiting expression of transthyretin. LG044131 - KR 1020150007359-A/1059: Compositions and methods for inhibiting expression of transthyretin. LY339507 - KR 1020160079921-A/779: Compositions and methods for inhibiting expression of transthyretin. LY339787 - KR 1020160079921-A/1059: Compositions and methods for inhibiting expression of transthyretin. LG043639 - KR 1020150007359-A/567: Compositions and methods for inhibiting expression of transthyretin. LG043919 - KR 1020150007359-A/847: Compositions and methods for inhibiting expression of transthyretin. LY339295 - KR 1020160079921-A/567: Compositions and methods for inhibiting expression of transthyretin. LY339575 - KR 1020160079921-A/847: Compositions and methods for inhibiting expression of transthyretin. LG043649 - KR 1020150007359-A/577: Compositions and methods for inhibiting expression of transthyretin. LG043929 - KR 1020150007359-A/857: Compositions and methods for inhibiting expression of transthyretin. LY339305 - KR 1020160079921-A/577: Compositions and methods for inhibiting expression of transthyretin. LY339585 - KR 1020160079921-A/857: Compositions and methods for inhibiting expression of transthyretin. AF162690 - Homo sapiens transthyretin precursor, mRNA, complete cds. LG043669 - KR 1020150007359-A/597: Compositions and methods for inhibiting expression of transthyretin. LG043949 - KR 1020150007359-A/877: Compositions and methods for inhibiting expression of transthyretin. LY339325 - KR 1020160079921-A/597: Compositions and methods for inhibiting expression of transthyretin. LY339605 - KR 1020160079921-A/877: Compositions and methods for inhibiting expression of transthyretin. CR456908 - Homo sapiens full open reading frame cDNA clone RZPDo834B067D for gene TTR, transthyretin (prealbumin, amyloidosis type I); complete cds, incl. stopcodon. BT007189 - Homo sapiens transthyretin (prealbumin, amyloidosis type I) mRNA, complete cds. JF432547 - Synthetic construct Homo sapiens clone IMAGE:100073771 transthyretin (TTR) gene, encodes complete protein. KJ892330 - Synthetic construct Homo sapiens clone ccsbBroadEn_01724 TTR gene, encodes complete protein. KR710754 - Synthetic construct Homo sapiens clone CCSBHm_00016740 TTR (TTR) mRNA, encodes complete protein. KR710755 - Synthetic construct Homo sapiens clone CCSBHm_00016751 TTR (TTR) mRNA, encodes complete protein. KR710756 - Synthetic construct Homo sapiens clone CCSBHm_00016813 TTR (TTR) mRNA, encodes complete protein. KR710757 - Synthetic construct Homo sapiens clone CCSBHm_00016831 TTR (TTR) mRNA, encodes complete protein. DQ778081 - Homo sapiens clone BFC06100 transthyretin mRNA, complete cds. DQ839490 - Homo sapiens clone BFC06109 transthyretin mRNA, complete cds. E01961 - DNA encoding prealbumin. EU794670 - Homo sapiens epididymis luminal protein 111 (HEL111) mRNA, complete cds. U19780 - Homo sapiens transthyretin precursor, mRNA, complete cds. LG043887 - KR 1020150007359-A/815: Compositions and methods for inhibiting expression of transthyretin. LG044167 - KR 1020150007359-A/1095: Compositions and methods for inhibiting expression of transthyretin. LY339543 - KR 1020160079921-A/815: Compositions and methods for inhibiting expression of transthyretin. LY339823 - KR 1020160079921-A/1095: Compositions and methods for inhibiting expression of transthyretin. LG043803 - KR 1020150007359-A/731: Compositions and methods for inhibiting expression of transthyretin. LG044083 - KR 1020150007359-A/1011: Compositions and methods for inhibiting expression of transthyretin. LY339459 - KR 1020160079921-A/731: Compositions and methods for inhibiting expression of transthyretin. LY339739 - KR 1020160079921-A/1011: Compositions and methods for inhibiting expression of transthyretin. LG043807 - KR 1020150007359-A/735: Compositions and methods for inhibiting expression of transthyretin. LG044087 - KR 1020150007359-A/1015: Compositions and methods for inhibiting expression of transthyretin. LY339463 - KR 1020160079921-A/735: Compositions and methods for inhibiting expression of transthyretin. LY339743 - KR 1020160079921-A/1015: Compositions and methods for inhibiting expression of transthyretin. LG043827 - KR 1020150007359-A/755: Compositions and methods for inhibiting expression of transthyretin. LG044107 - KR 1020150007359-A/1035: Compositions and methods for inhibiting expression of transthyretin. LY339483 - KR 1020160079921-A/755: Compositions and methods for inhibiting expression of transthyretin. LY339763 - KR 1020160079921-A/1035: Compositions and methods for inhibiting expression of transthyretin. LG043905 - KR 1020150007359-A/833: Compositions and methods for inhibiting expression of transthyretin. LG044185 - KR 1020150007359-A/1113: Compositions and methods for inhibiting expression of transthyretin. LY339561 - KR 1020160079921-A/833: Compositions and methods for inhibiting expression of transthyretin. LY339841 - KR 1020160079921-A/1113: Compositions and methods for inhibiting expression of transthyretin. LG043909 - KR 1020150007359-A/837: Compositions and methods for inhibiting expression of transthyretin. LG044189 - KR 1020150007359-A/1117: Compositions and methods for inhibiting expression of transthyretin. LY339565 - KR 1020160079921-A/837: Compositions and methods for inhibiting expression of transthyretin. LY339845 - KR 1020160079921-A/1117: Compositions and methods for inhibiting expression of transthyretin. E01962 - DNA encoding prealbumin. LG043861 - KR 1020150007359-A/789: Compositions and methods for inhibiting expression of transthyretin. LG044141 - KR 1020150007359-A/1069: Compositions and methods for inhibiting expression of transthyretin. LY339517 - KR 1020160079921-A/789: Compositions and methods for inhibiting expression of transthyretin. LY339797 - KR 1020160079921-A/1069: Compositions and methods for inhibiting expression of transthyretin. LG043633 - KR 1020150007359-A/561: Compositions and methods for inhibiting expression of transthyretin. LG043913 - KR 1020150007359-A/841: Compositions and methods for inhibiting expression of transthyretin. LY339289 - KR 1020160079921-A/561: Compositions and methods for inhibiting expression of transthyretin. LY339569 - KR 1020160079921-A/841: Compositions and methods for inhibiting expression of transthyretin. LG043875 - KR 1020150007359-A/803: Compositions and methods for inhibiting expression of transthyretin. LG044155 - KR 1020150007359-A/1083: Compositions and methods for inhibiting expression of transthyretin. LY339531 - KR 1020160079921-A/803: Compositions and methods for inhibiting expression of transthyretin. LY339811 - KR 1020160079921-A/1083: Compositions and methods for inhibiting expression of transthyretin. M11714 - Human transthyretin mRNA, partial cds. LG043879 - KR 1020150007359-A/807: Compositions and methods for inhibiting expression of transthyretin. LG044159 - KR 1020150007359-A/1087: Compositions and methods for inhibiting expression of transthyretin. LY339535 - KR 1020160079921-A/807: Compositions and methods for inhibiting expression of transthyretin. LY339815 - KR 1020160079921-A/1087: Compositions and methods for inhibiting expression of transthyretin. LG043657 - KR 1020150007359-A/585: Compositions and methods for inhibiting expression of transthyretin. LG043937 - KR 1020150007359-A/865: Compositions and methods for inhibiting expression of transthyretin. LY339313 - KR 1020160079921-A/585: Compositions and methods for inhibiting expression of transthyretin. LY339593 - KR 1020160079921-A/865: Compositions and methods for inhibiting expression of transthyretin. LG043659 - KR 1020150007359-A/587: Compositions and methods for inhibiting expression of transthyretin. LG043939 - KR 1020150007359-A/867: Compositions and methods for inhibiting expression of transthyretin. LY339315 - KR 1020160079921-A/587: Compositions and methods for inhibiting expression of transthyretin. LY339595 - KR 1020160079921-A/867: Compositions and methods for inhibiting expression of transthyretin. LG043683 - KR 1020150007359-A/611: Compositions and methods for inhibiting expression of transthyretin. LG043963 - KR 1020150007359-A/891: Compositions and methods for inhibiting expression of transthyretin. LY339339 - KR 1020160079921-A/611: Compositions and methods for inhibiting expression of transthyretin. LY339619 - KR 1020160079921-A/891: Compositions and methods for inhibiting expression of transthyretin. LG043695 - KR 1020150007359-A/623: Compositions and methods for inhibiting expression of transthyretin. LG043975 - KR 1020150007359-A/903: Compositions and methods for inhibiting expression of transthyretin. LY339351 - KR 1020160079921-A/623: Compositions and methods for inhibiting expression of transthyretin. LY339631 - KR 1020160079921-A/903: Compositions and methods for inhibiting expression of transthyretin. LG043711 - KR 1020150007359-A/639: Compositions and methods for inhibiting expression of transthyretin. LG043991 - KR 1020150007359-A/919: Compositions and methods for inhibiting expression of transthyretin. LY339367 - KR 1020160079921-A/639: Compositions and methods for inhibiting expression of transthyretin. LY339647 - KR 1020160079921-A/919: Compositions and methods for inhibiting expression of transthyretin. LG043739 - KR 1020150007359-A/667: Compositions and methods for inhibiting expression of transthyretin. LG044019 - KR 1020150007359-A/947: Compositions and methods for inhibiting expression of transthyretin. LY339395 - KR 1020160079921-A/667: Compositions and methods for inhibiting expression of transthyretin. LY339675 - KR 1020160079921-A/947: Compositions and methods for inhibiting expression of transthyretin. LG043763 - KR 1020150007359-A/691: Compositions and methods for inhibiting expression of transthyretin. LG044043 - KR 1020150007359-A/971: Compositions and methods for inhibiting expression of transthyretin. LY339419 - KR 1020160079921-A/691: Compositions and methods for inhibiting expression of transthyretin. LY339699 - KR 1020160079921-A/971: Compositions and methods for inhibiting expression of transthyretin. LG043765 - KR 1020150007359-A/693: Compositions and methods for inhibiting expression of transthyretin. LG044045 - KR 1020150007359-A/973: Compositions and methods for inhibiting expression of transthyretin. LY339421 - KR 1020160079921-A/693: Compositions and methods for inhibiting expression of transthyretin. LY339701 - KR 1020160079921-A/973: Compositions and methods for inhibiting expression of transthyretin. LG043767 - KR 1020150007359-A/695: Compositions and methods for inhibiting expression of transthyretin. LG044047 - KR 1020150007359-A/975: Compositions and methods for inhibiting expression of transthyretin. LY339423 - KR 1020160079921-A/695: Compositions and methods for inhibiting expression of transthyretin. LY339703 - KR 1020160079921-A/975: Compositions and methods for inhibiting expression of transthyretin. LG043775 - KR 1020150007359-A/703: Compositions and methods for inhibiting expression of transthyretin. LG044055 - KR 1020150007359-A/983: Compositions and methods for inhibiting expression of transthyretin. LY339431 - KR 1020160079921-A/703: Compositions and methods for inhibiting expression of transthyretin. LY339711 - KR 1020160079921-A/983: Compositions and methods for inhibiting expression of transthyretin. LG043781 - KR 1020150007359-A/709: Compositions and methods for inhibiting expression of transthyretin. LG044061 - KR 1020150007359-A/989: Compositions and methods for inhibiting expression of transthyretin. LY339437 - KR 1020160079921-A/709: Compositions and methods for inhibiting expression of transthyretin. LY339717 - KR 1020160079921-A/989: Compositions and methods for inhibiting expression of transthyretin. JD208012 - Sequence 189036 from Patent EP1572962. LG044408 - KR 1020150007359-A/1336: Compositions and methods for inhibiting expression of transthyretin. LY340064 - KR 1020160079921-A/1336: Compositions and methods for inhibiting expression of transthyretin. LG044412 - KR 1020150007359-A/1340: Compositions and methods for inhibiting expression of transthyretin. LY340068 - KR 1020160079921-A/1340: Compositions and methods for inhibiting expression of transthyretin. LG044414 - KR 1020150007359-A/1342: Compositions and methods for inhibiting expression of transthyretin. LY340070 - KR 1020160079921-A/1342: Compositions and methods for inhibiting expression of transthyretin. LG043799 - KR 1020150007359-A/727: Compositions and methods for inhibiting expression of transthyretin. LG044079 - KR 1020150007359-A/1007: Compositions and methods for inhibiting expression of transthyretin. LG044422 - KR 1020150007359-A/1350: Compositions and methods for inhibiting expression of transthyretin. LY339455 - KR 1020160079921-A/727: Compositions and methods for inhibiting expression of transthyretin. LY339735 - KR 1020160079921-A/1007: Compositions and methods for inhibiting expression of transthyretin. LY340078 - KR 1020160079921-A/1350: Compositions and methods for inhibiting expression of transthyretin. LG043801 - KR 1020150007359-A/729: Compositions and methods for inhibiting expression of transthyretin. LG044081 - KR 1020150007359-A/1009: Compositions and methods for inhibiting expression of transthyretin. LG044480 - KR 1020150007359-A/1408: Compositions and methods for inhibiting expression of transthyretin. LY339457 - KR 1020160079921-A/729: Compositions and methods for inhibiting expression of transthyretin. LY339737 - KR 1020160079921-A/1009: Compositions and methods for inhibiting expression of transthyretin. LY340136 - KR 1020160079921-A/1408: Compositions and methods for inhibiting expression of transthyretin. LG044424 - KR 1020150007359-A/1352: Compositions and methods for inhibiting expression of transthyretin. LY340080 - KR 1020160079921-A/1352: Compositions and methods for inhibiting expression of transthyretin. LG044426 - KR 1020150007359-A/1354: Compositions and methods for inhibiting expression of transthyretin. LY340082 - KR 1020160079921-A/1354: Compositions and methods for inhibiting expression of transthyretin. LG044428 - KR 1020150007359-A/1356: Compositions and methods for inhibiting expression of transthyretin. LY340084 - KR 1020160079921-A/1356: Compositions and methods for inhibiting expression of transthyretin. LG044450 - KR 1020150007359-A/1378: Compositions and methods for inhibiting expression of transthyretin. LY340106 - KR 1020160079921-A/1378: Compositions and methods for inhibiting expression of transthyretin. LG044454 - KR 1020150007359-A/1382: Compositions and methods for inhibiting expression of transthyretin. LY340110 - KR 1020160079921-A/1382: Compositions and methods for inhibiting expression of transthyretin. LG044456 - KR 1020150007359-A/1384: Compositions and methods for inhibiting expression of transthyretin. LY340112 - KR 1020160079921-A/1384: Compositions and methods for inhibiting expression of transthyretin. LG044458 - KR 1020150007359-A/1386: Compositions and methods for inhibiting expression of transthyretin. LY340114 - KR 1020160079921-A/1386: Compositions and methods for inhibiting expression of transthyretin. LG044460 - KR 1020150007359-A/1388: Compositions and methods for inhibiting expression of transthyretin. LY340116 - KR 1020160079921-A/1388: Compositions and methods for inhibiting expression of transthyretin. LG044470 - KR 1020150007359-A/1398: Compositions and methods for inhibiting expression of transthyretin. LY340126 - KR 1020160079921-A/1398: Compositions and methods for inhibiting expression of transthyretin. LG044476 - KR 1020150007359-A/1404: Compositions and methods for inhibiting expression of transthyretin. LY340132 - KR 1020160079921-A/1404: Compositions and methods for inhibiting expression of transthyretin. LG043811 - KR 1020150007359-A/739: Compositions and methods for inhibiting expression of transthyretin. LG044091 - KR 1020150007359-A/1019: Compositions and methods for inhibiting expression of transthyretin. LY339467 - KR 1020160079921-A/739: Compositions and methods for inhibiting expression of transthyretin. LY339747 - KR 1020160079921-A/1019: Compositions and methods for inhibiting expression of transthyretin. LG043815 - KR 1020150007359-A/743: Compositions and methods for inhibiting expression of transthyretin. LG044095 - KR 1020150007359-A/1023: Compositions and methods for inhibiting expression of transthyretin. LY339471 - KR 1020160079921-A/743: Compositions and methods for inhibiting expression of transthyretin. LY339751 - KR 1020160079921-A/1023: Compositions and methods for inhibiting expression of transthyretin. JD110725 - Sequence 91749 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P02766 (Reactome details) participates in the following event(s):
US Server
