Version 5.4
Homo sapiens Protein: TTR
Summary
InnateDB Protein IDBP-2094.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTR
Protein Name transthyretin
Synonyms CTS; CTS1; HEL111; HsT2651; PALB; TBPA;
Species Homo sapiens
Ensembl Protein ENSP00000237014
InnateDB Gene IDBG-2092 (TTR)
Protein Structure
UniProt Annotation
Function Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. {ECO:0000269PubMed:3714052}.
Subcellular Localization Secreted. Cytoplasm.
Disease Associations 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. {ECO:0000269PubMed:10036587, ECO:0000269PubMed:10071047, ECO:0000269PubMed:10211412, ECO:0000269PubMed:10436378, ECO:0000269PubMed:10439117, ECO:0000269PubMed:10611950, ECO:0000269PubMed:10627135, ECO:0000269PubMed:10694917, ECO:0000269PubMed:10842705, ECO:0000269PubMed:10842718, ECO:0000269PubMed:10882995, ECO:0000269PubMed:11445644, ECO:0000269PubMed:11866053, ECO:0000269PubMed:12050338, ECO:0000269PubMed:12557757, ECO:0000269PubMed:12771253, ECO:0000269PubMed:1301926, ECO:0000269PubMed:1351039, ECO:0000269PubMed:1362222, ECO:0000269PubMed:1436517, ECO:0000269PubMed:1517749, ECO:0000269PubMed:1520326, ECO:0000269PubMed:1520336, ECO:0000269PubMed:15214015, ECO:0000269PubMed:15217993, ECO:0000269PubMed:1544214, ECO:0000269PubMed:15478468, ECO:0000269PubMed:1570831, ECO:0000269PubMed:1656975, ECO:0000269PubMed:1734866, ECO:0000269PubMed:17453626, ECO:0000269PubMed:17503405, ECO:0000269PubMed:17577687, ECO:0000269PubMed:17635579, ECO:0000269PubMed:1932142, ECO:0000269PubMed:2046936, ECO:0000269PubMed:2161654, ECO:0000269PubMed:23317988, ECO:0000269PubMed:2363717, ECO:0000269PubMed:2891727, ECO:0000269PubMed:3022108, ECO:0000269PubMed:3135807, ECO:0000269PubMed:3722385, ECO:0000269PubMed:3818577, ECO:0000269PubMed:6487335, ECO:0000269PubMed:6583672, ECO:0000269PubMed:6651852, ECO:0000269PubMed:7655883, ECO:0000269PubMed:7850982, ECO:0000269PubMed:7910950, ECO:0000269PubMed:7914929, ECO:0000269PubMed:7923855, ECO:0000269PubMed:8019560, ECO:0000269PubMed:8038017, ECO:0000269PubMed:8081397, ECO:0000269PubMed:8095302, ECO:0000269PubMed:8133316, ECO:0000269PubMed:8257997, ECO:0000269PubMed:8352764, ECO:0000269PubMed:8579098, ECO:0000269PubMed:8990019, ECO:0000269PubMed:9066351, ECO:0000269PubMed:9605286, ECO:0000269Ref.89}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]: A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. {ECO:0000269PubMed:1979335}. Note=The disease is caused by mutations affecting the gene represented in this entry.Carpal tunnel syndrome 1 (CTS1) [MIM:115430]: 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. {ECO:0000269PubMed:8309582}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269PubMed:10328977, ECO:0000269PubMed:3714052}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 80 [view]
Protein-Protein 79 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005179 hormone activity
GO:0005515 protein binding
GO:0042562 hormone binding
GO:0042802 identical protein binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0006810 transport
GO:0007603 phototransduction, visible light
GO:0030198 extracellular matrix organization
GO:0042572 retinol metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000895 Transthyretin/hydroxyisourate hydrolase
IPR023416 Transthyretin/hydroxyisourate hydrolase, superfamily
PFAM PF00576
PRINTS PR00189
PIRSF
SMART SM00095
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P02766
PhosphoSite PhosphoSite-P02766
TrEMBL E9KL36
UniProt Splice Variant
Entrez Gene 7276
UniGene
RefSeq NP_000362
HUGO HGNC:12405
OMIM 176300
CCDS CCDS11899
HPRD 01447
IMGT
EMBL AF162690 AK312051 BC005310 BC020791 BT007189 CH471088 CR456908 D00096 EU794670 GU727633 K02091 M10605 M11518 M11714 M11844 M15515 M15516 M15517 M63285 S63185 S72385 U19780 X59498
GenPept AAA36784 AAA60011 AAA60012 AAA60013 AAA60018 AAA61181 AAA73473 AAA98771 AAD14098 AAD14937 AAD45014 AAH05310 AAH20791 AAP35853 ACJ13724 ADU87635 BAA00059 BAG34987 CAA42087 CAG33189 EAX01264 EAX01266

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca