TTR
entrez
7276
canonical
uniprot
P02766
canonical
ensembl
ENSG00000118271
resolver
ensp
ENSP00000237014
resolver
ensp
ENSP00000497927
resolver
ensp
ENSP00000529047
resolver
ensp
ENSP00000529048
resolver
ensp
ENSP00000529049
resolver
ensp
ENSP00000529050
resolver
enst
ENST00000237014
resolver
enst
ENST00000649620
resolver
enst
ENST00000858988
resolver
enst
ENST00000858989
resolver
enst
ENST00000858990
resolver
enst
ENST00000858991
resolver
genesymbol
HEL111
resolver
genesymbol
TTR
resolver
genesymbol_syn
PALB
resolver
hgnc
HGNC:12405
resolver
uniprot
E9KL36
resolver
uniprot
Q549C7
resolver
uniprot
Q6IB96
resolver
uniprot
Q9UBZ6
resolver
uniprot
Q9UCM9
resolver
uniprot_entry
E9KL36_HUMAN
resolver
uniprot_entry
TTHY_HUMAN
resolver
uniprot_sec
Q549C7
resolver
uniprot_sec
Q6IB96
resolver
uniprot_sec
Q9UBZ6
resolver
uniprot_sec
Q9UCM9
resolver
amino_acid_sequence
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
uniprot
proteins
disease_involvement
DISEASE: Amyloidosis, hereditary systemic 1 (AMYLD1) [MIM:105210]: A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form 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:0000269|PubMed:10036587, ECO:0000269|PubMed:10071047, ECO:0000269|PubMed:10211412, ECO:0000269|PubMed:10436378, ECO:0000269|PubMed:10439117, ECO:0000269|PubMed:10611950, ECO:0000269|PubMed:10627135, ECO:0000269|PubMed:10694917, ECO:0000269|PubMed:10842705, ECO:0000269|PubMed:10842718, ECO:0000269|PubMed:10882995, ECO:0000269|PubMed:11243784, ECO:0000269|PubMed:11445644, ECO:0000269|PubMed:11866053, ECO:0000269|PubMed:12050338, ECO:0000269|PubMed:12403615, ECO:0000269|PubMed:12557757, ECO:0000269|PubMed:12771253, ECO:0000269|PubMed:1301926, ECO:0000269|PubMed:1351039, ECO:0000269|PubMed:1362222, ECO:0000269|PubMed:1436517, ECO:0000269|PubMed:1517749, ECO:0000269|PubMed:1520326, ECO:0000269|PubMed:1520336, ECO:0000269|PubMed:15214015, ECO:0000269|PubMed:15217993, ECO:0000269|PubMed:1544214, ECO:0000269|PubMed:15478468, ECO:0000269|PubMed:1570831, ECO:0000269|PubMed:15735344, ECO:0000269|PubMed:16185074, ECO:0000269|PubMed:1656975, ECO:0000269|PubMed:16627944, ECO:0000269|PubMed:1734866, ECO:0000269|PubMed:17453626, ECO:0000269|PubMed:17503405, ECO:0000269|PubMed:17577687, ECO:0000269|PubMed:17635579, ECO:0000269|PubMed:19167329, ECO:0000269|PubMed:1932142, ECO:0000269|PubMed:2046936, ECO:0000269|PubMed:2161654, ECO:0000269|PubMed:23317988, ECO:0000269|PubMed:2363717, ECO:0000269|PubMed:2891727, ECO:0000269|PubMed:3022108, ECO:0000269|PubMed:3135807, ECO:0000269|PubMed:3722385, ECO:0000269|PubMed:3818577, ECO:0000269|PubMed:6487335, ECO:0000269|PubMed:6583672, ECO:0000269|PubMed:6651852, ECO:0000269|PubMed:7599630, ECO:0000269|PubMed:7655883, ECO:0000269|PubMed:7850982, ECO:0000269|PubMed:7910950, ECO:0000269|PubMed:7914929, ECO:0000269|PubMed:7923855, ECO:0000269|PubMed:8019560, ECO:0000269|PubMed:8038017, ECO:0000269|PubMed:8081397, ECO:0000269|PubMed:8095302, ECO:0000269|PubMed:8133316, ECO:0000269|PubMed:8257997, ECO:0000269|PubMed:8352764, ECO:0000269|PubMed:8382610, ECO:0000269|PubMed:8428915, ECO:0000269|PubMed:8579098, ECO:0000269|PubMed:8990019, ECO:0000269|PubMed:9066351, ECO:0000269|PubMed:9605286, ECO:0000269|PubMed:9733771, ECO:0000269|Ref.90}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680]: A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. {ECO:0000269|PubMed:1979335}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:8309582}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. {ECO:0000269|PubMed:3714052}.
uniprot
proteins
mass_dalton
15887
uniprot
proteins
mutagenesis
MUTAGEN 107; /note="F->M: Loss of tetramerization; when associated with M-130."; /evidence="ECO:0000269|PubMed:11560492"; MUTAGEN 130; /note="L->M: Loss of tetramerization; when associated with M-107."; /evidence="ECO:0000269|PubMed:11560492
uniprot
proteins
post_translational_modification
PTM: Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYLD1 '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. {ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19167329}.; PTM: Sulfonation of the reactive cysteine Cys-30 enhances the stability of the native conformation of TTR, avoiding misassembly of the protein leading to amyloid formation. {ECO:0000305|PubMed:17175208}.
uniprot
proteins
protein_family
Transthyretin family
uniprot
proteins
pubmed
10036587
uniprot
proteins
pubmed
10052934
uniprot
proteins
pubmed
10071047
uniprot
proteins
pubmed
10211412
uniprot
proteins
pubmed
10328977
uniprot
proteins
pubmed
10436378
uniprot
proteins
pubmed
10439117
uniprot
proteins
pubmed
10529370
uniprot
proteins
pubmed
10611950
uniprot
proteins
pubmed
10627135
uniprot
proteins
pubmed
10671063
uniprot
proteins
pubmed
10694917
uniprot
proteins
pubmed
10742177
uniprot
proteins
pubmed
10842705
uniprot
proteins
pubmed
10842718
uniprot
proteins
pubmed
10882995
uniprot
proteins
pubmed
10986125
uniprot
proteins
pubmed
11243784
uniprot
proteins
pubmed
11418763
uniprot
proteins
pubmed
11445644
uniprot
proteins
pubmed
11560492
uniprot
proteins
pubmed
11866053
uniprot
proteins
pubmed
12050338
uniprot
proteins
pubmed
12403615
uniprot
proteins
pubmed
12557757
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12771253
uniprot
proteins
pubmed
12820260
uniprot
proteins
pubmed
12876326
uniprot
proteins
pubmed
1301926
uniprot
proteins
pubmed
1351039
uniprot
proteins
pubmed
1362222
uniprot
proteins
pubmed
1436517
uniprot
proteins
pubmed
14583036
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14711308
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
1517749
uniprot
proteins
pubmed
1520326
uniprot
proteins
pubmed
1520336
uniprot
proteins
pubmed
15214015
uniprot
proteins
pubmed
15217993
uniprot
proteins
pubmed
1544214
uniprot
proteins
pubmed
15478468
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1570831
uniprot
proteins
pubmed
15735344
uniprot
proteins
pubmed
15769474
uniprot
proteins
pubmed
15826192
uniprot
proteins
pubmed
15981995
uniprot
proteins
pubmed
16185074
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
1656975
uniprot
proteins
pubmed
16627944
uniprot
proteins
pubmed
1666289
uniprot
proteins
pubmed
17175208
uniprot
proteins
pubmed
17196219
uniprot
proteins
pubmed
1734866
uniprot
proteins
pubmed
17453626
uniprot
proteins
pubmed
17503405
uniprot
proteins
pubmed
17577687
uniprot
proteins
pubmed
17635579
uniprot
proteins
pubmed
18095641
uniprot
proteins
pubmed
18155178
uniprot
proteins
pubmed
18221012
uniprot
proteins
pubmed
18662699
uniprot
proteins
pubmed
1877623
uniprot
proteins
pubmed
18811132
uniprot
proteins
pubmed
19021760
uniprot
proteins
pubmed
19167329
uniprot
proteins
pubmed
1932142
uniprot
proteins
pubmed
1979335
uniprot
proteins
pubmed
1997217
uniprot
proteins
pubmed
2015890
uniprot
proteins
pubmed
201845
uniprot
proteins
pubmed
2046936
uniprot
proteins
pubmed
2161654
uniprot
proteins
pubmed
23317988
uniprot
proteins
pubmed
2363717
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2891727
uniprot
proteins
pubmed
2990465
uniprot
proteins
pubmed
2995367
uniprot
proteins
pubmed
3022108
uniprot
proteins
pubmed
3135807
uniprot
proteins
pubmed
3675594
uniprot
proteins
pubmed
3714052
uniprot
proteins
pubmed
3722385
uniprot
proteins
pubmed
3818577
uniprot
proteins
pubmed
4044580
uniprot
proteins
pubmed
4054629
uniprot
proteins
pubmed
4216640
uniprot
proteins
pubmed
4607556
uniprot
proteins
pubmed
6093805
uniprot
proteins
pubmed
6300852
uniprot
proteins
pubmed
6487335
uniprot
proteins
pubmed
6583672
uniprot
proteins
pubmed
6651852
uniprot
proteins
pubmed
671542
uniprot
proteins
pubmed
7474944
uniprot
proteins
pubmed
7599630
uniprot
proteins
pubmed
7655883
uniprot
proteins
pubmed
7754382
uniprot
proteins
pubmed
7850982
uniprot
proteins
pubmed
7910950
uniprot
proteins
pubmed
7914929
uniprot
proteins
pubmed
7923855
uniprot
proteins
pubmed
8019560
uniprot
proteins
pubmed
8038017
uniprot
proteins
pubmed
8081397
uniprot
proteins
pubmed
8089102
uniprot
proteins
pubmed
8095302
uniprot
proteins
pubmed
8133316
uniprot
proteins
pubmed
8257997
uniprot
proteins
pubmed
8309582
uniprot
proteins
pubmed
8352764
uniprot
proteins
pubmed
8382610
uniprot
proteins
pubmed
8428915
uniprot
proteins
pubmed
8579098
uniprot
proteins
pubmed
8990019
uniprot
proteins
pubmed
9066351
uniprot
proteins
pubmed
9605286
uniprot
proteins
pubmed
9733771
uniprot
proteins
pubmed
9789022
uniprot
proteins
pubmed
9818054
uniprot
proteins
pubmed
9818883
uniprot
proteins
sequence_length
147
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted. Cytoplasm.
uniprot
proteins