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P02766

- TTHY_HUMAN

UniProt

P02766 - TTHY_HUMAN

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Protein

Transthyretin

Gene
TTR, PALB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei35 – 351Thyroid hormones
Binding sitei74 – 741Thyroid hormones

GO - Molecular functioni

  1. hormone binding Source: Ensembl
  2. identical protein binding Source: IntAct
  3. protein binding Source: IntAct

GO - Biological processi

  1. extracellular matrix organization Source: Reactome
  2. phototransduction, visible light Source: Reactome
  3. retinoid metabolic process Source: Reactome
  4. retinol metabolic process Source: Ensembl
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hormone, Thyroid hormone

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_160130. Retinoid cycle disease events.
REACT_160156. The canonical retinoid cycle in rods (twilight vision).
REACT_163874. Non-integrin membrane-ECM interactions.
REACT_24968. Retinoid metabolism and transport.
REACT_75925. Amyloids.

Names & Taxonomyi

Protein namesi
Recommended name:
Transthyretin
Alternative name(s):
ATTR
Prealbumin
TBPA
Gene namesi
Name:TTR
Synonyms:PALB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:12405. TTR.

Subcellular locationi

Secreted. Cytoplasm 2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. extracellular region Source: UniProtKB
  3. extracellular space Source: UniProt
  4. extracellular vesicular exosome Source: UniProt
  5. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Amyloid, Cytoplasm, Secreted

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.73 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301C → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007547
Natural varianti32 – 321L → P in AMYL-TTR. 2 Publications
VAR_038959
Natural varianti38 – 381D → E in AMYL-TTR; amyloid polyneuropathy.
VAR_007548
Natural varianti38 – 381D → G in AMYL-TTR; leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway. 2 Publications
VAR_007549
Natural varianti40 – 401V → I in AMYL-TTR; late-onset amyloid polyneuropathy with carpal tunnel syndrome. 2 Publications
VAR_007550
Natural varianti43 – 431S → N in AMYL-TTR. 1 Publication
VAR_038961
Natural varianti44 – 441P → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
Corresponds to variant rs11541790 [ dbSNP | Ensembl ].
VAR_007551
Natural varianti48 – 481V → M in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_010658
Natural varianti50 – 501V → A in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007552
Natural varianti50 – 501V → G in AMYL-TTR. 1 Publication
VAR_038962
Natural varianti50 – 501V → L in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007553
Natural varianti50 – 501V → M in AMYL-TTR; amyloid polyneuropathy; by far the most frequent mutation. 11 Publications
Corresponds to variant rs28933979 [ dbSNP | Ensembl ].
VAR_007554
Natural varianti53 – 531F → I in AMYL-TTR; Jewish 'SKO' amyloid polyneuropathy. 2 Publications
VAR_007555
Natural varianti53 – 531F → L in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007556
Natural varianti53 – 531F → V in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_038964
Natural varianti54 – 541R → T in AMYL-TTR. 1 Publication
VAR_038965
Natural varianti55 – 551K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_038966
Natural varianti56 – 561A → P in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007557
Natural varianti58 – 581D → A in AMYL-TTR. 2 Publications
VAR_038967
Natural varianti58 – 581D → V in AMYL-TTR. 2 Publications
VAR_038968
Natural varianti61 – 611W → L in AMYL-TTR. 1 Publication
VAR_038969
Natural varianti62 – 621E → D in AMYL-TTR. 1 Publication
Corresponds to variant rs11541796 [ dbSNP | Ensembl ].
VAR_038970
Natural varianti62 – 621E → G in AMYL-TTR; amyloid polyneuropathy. 2 Publications
Corresponds to variant rs11541796 [ dbSNP | Ensembl ].
VAR_007558
Natural varianti64 – 641F → S in AMYL-TTR. 2 Publications
VAR_038971
Natural varianti65 – 651A → D in AMYL-TTR; amyloid cardiomyopathy.
VAR_007559
Natural varianti65 – 651A → S in AMYL-TTR. 1 Publication
VAR_038972
Natural varianti65 – 651A → T in AMYL-TTR; amyloid cardiomyopathy. 2 Publications
VAR_007560
Natural varianti67 – 671G → A in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007561
Natural varianti67 – 671G → E in AMYL-TTR. 2 Publications
VAR_038973
Natural varianti67 – 671G → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007562
Natural varianti67 – 671G → V in AMYL-TTR; amyloid polyneuropathy with carpal tunnel syndrome.
VAR_007563
Natural varianti69 – 691T → A in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007564
Natural varianti69 – 691T → I in AMYL-TTR. 2 Publications
VAR_038974
Natural varianti70 – 701S → I in AMYL-TTR; amyloid cardiomyopathy. 1 Publication
VAR_007565
Natural varianti70 – 701S → R in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007566
Natural varianti72 – 721S → P in AMYL-TTR; amyloid polyneuropathy.
VAR_007567
Natural varianti73 – 731G → E in AMYL-TTR. 1 Publication
VAR_038975
Natural varianti74 – 741E → G in AMYL-TTR; amyloid polyneuropathy.
VAR_007568
Natural varianti74 – 741E → K in AMYL-TTR; early-onset amyloid polyneuropathy. 1 Publication
VAR_038976
Natural varianti75 – 751L → P in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007569
Natural varianti75 – 751L → Q in AMYL-TTR. 1 Publication
VAR_038977
Natural varianti78 – 781L → H in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007570
Natural varianti78 – 781L → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007571
Natural varianti79 – 791T → K in AMYL-TTR; amyloid cardiomyopathy. 1 Publication
VAR_007572
Natural varianti80 – 801T → A in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 4 Publications
VAR_007573
Natural varianti81 – 811E → G in AMYL-TTR. 1 Publication
VAR_038978
Natural varianti81 – 811E → K in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007574
Natural varianti84 – 841F → L in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007575
Natural varianti88 – 881I → L in AMYL-TTR; amyloid cardiomyopathy. 2 Publications
VAR_007576
Natural varianti89 – 891Y → H in AMYL-TTR; leptomeningeal amyloidosis; vitreous amyloid in some patients. 1 Publication
VAR_007577
Natural varianti90 – 901K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007578
Natural varianti91 – 911V → A in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007579
Natural varianti93 – 931I → V in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007580
Natural varianti97 – 971S → Y in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007582
Natural varianti98 – 981Y → F in AMYL-TTR. 3 Publications
VAR_038979
Natural varianti104 – 1041I → N in AMYL-TTR; vitrous amyloid. 1 Publication
VAR_007583
Natural varianti104 – 1041I → S in AMYL-TTR; amyloid polyneuropathy; almost no RBP binding. 3 Publications
VAR_007584
Natural varianti104 – 1041I → T in AMYL-TTR. 1 Publication
VAR_038980
Natural varianti109 – 1091E → K in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_010659
Natural varianti109 – 1091E → Q in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 2 Publications
VAR_007585
Natural varianti111 – 1111A → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007587
Natural varianti117 – 1171A → G in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007588
Natural varianti117 – 1171A → S in AMYL-TTR. 1 Publication
VAR_038982
Natural varianti126 – 1261T → N in AMYL-TTR. 1 Publication
VAR_038984
Natural varianti127 – 1271I → M in AMYL-TTR. 1 Publication
VAR_038985
Natural varianti127 – 1271I → V in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007592
Natural varianti131 – 1311L → M in AMYL-TTR. 1 Publication
VAR_007594
Natural varianti134 – 1341Y → C in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007595
Natural varianti136 – 1361Y → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007596
Natural varianti140 – 1401A → S in AMYL-TTR. 1 Publication
VAR_038986
Natural varianti142 – 1421V → A in AMYL-TTR. 1 Publication
VAR_038987
Natural varianti142 – 1421V → I in AMYL-TTR. 3 Publications
Corresponds to variant rs28933980 [ dbSNP | Ensembl ].
VAR_007600
Natural varianti144 – 1441N → S in AMYL-TTR. 1 Publication
VAR_038988
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291A → T in HTDE; increased affinity for thyroxine. 2 Publications
VAR_007593
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti134 – 1341Y → H in CTS1; amyloid deposit on carpal tunnel; patients show no other abnormalities. 1 Publication
VAR_007598

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi107 – 1071F → M: Loss of tetramerization; when associated with M-130. 1 Publication
Mutagenesisi130 – 1301L → M: Loss of tetramerization; when associated with M-107. 1 Publication

Keywords - Diseasei

Amyloidosis, Disease mutation, Neuropathy

Organism-specific databases

MIMi105210. phenotype.
115430. phenotype.
145680. phenotype.
Orphaneti85447. Familial amyloid polyneuropathy.
85451. Transthyretin-related familial amyloid cardiomyopathy.
PharmGKBiPA37069.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 20207 PublicationsAdd
BLAST
Chaini21 – 147127TransthyretinPRO_0000035755Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei62 – 6214-carboxyglutamate; in a patient with Moyamoya disease1 Publication
Glycosylationi118 – 1181N-linked (GlcNAc...)2 Publications

Post-translational modificationi

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.1 Publication

Keywords - PTMi

Gamma-carboxyglutamic acid, Glycoprotein

Proteomic databases

MaxQBiP02766.
PaxDbiP02766.
PeptideAtlasiP02766.
PRIDEiP02766.

2D gel databases

DOSAC-COBS-2DPAGEP02766.
REPRODUCTION-2DPAGEP02766.
SWISS-2DPAGEP02766.
UCD-2DPAGEP02766.

PTM databases

PhosphoSiteiP02766.

Miscellaneous databases

PMAP-CutDBP02766.

Expressioni

Tissue specificityi

Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver.2 Publications

Gene expression databases

ArrayExpressiP02766.
BgeeiP02766.
CleanExiHS_TTR.
GenevestigatoriP02766.

Organism-specific databases

HPAiCAB002517.
CAB062567.
HPA002550.

Interactioni

Subunit structurei

Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can accommodate two ligand molecules. Interacts with RBP4.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself6EBI-711909,EBI-711909
AGERQ151092EBI-711909,EBI-1646426
MT3P257133EBI-711909,EBI-8084264

Protein-protein interaction databases

BioGridi113127. 43 interactions.
DIPiDIP-1083N.
IntActiP02766. 45 interactions.
MINTiMINT-1374623.
STRINGi9606.ENSP00000237014.

Structurei

Secondary structure

1
147
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni23 – 264
Beta strandi32 – 387
Turni39 – 424
Beta strandi49 – 557
Beta strandi57 – 593
Beta strandi61 – 688
Beta strandi73 – 753
Beta strandi77 – 804
Turni81 – 833
Beta strandi86 – 938
Helixi95 – 1017
Beta strandi107 – 11812
Beta strandi119 – 1213
Beta strandi124 – 1329
Beta strandi135 – 1439

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BM7X-ray2.00A/B21-147[»]
1BMZX-ray2.00A/B21-143[»]
1BZ8X-ray2.00A/B21-147[»]
1BZDX-ray1.90A/B21-147[»]
1BZEX-ray1.80A/B21-147[»]
1DVQX-ray2.00A/B21-144[»]
1DVSX-ray2.00A/B21-144[»]
1DVTX-ray1.90A/B21-144[»]
1DVUX-ray1.90A/B21-144[»]
1DVXX-ray2.00A/B21-144[»]
1DVYX-ray1.90A/B21-144[»]
1DVZX-ray1.90A/B21-144[»]
1E3FX-ray1.90A/B21-145[»]
1E4HX-ray1.80A/B21-147[»]
1E5AX-ray1.80A/B21-147[»]
1ETAX-ray1.701/221-147[»]
1ETBX-ray1.701/221-147[»]
1F41X-ray1.30A/B21-147[»]
1F64model-A21-147[»]
1F86X-ray1.10A/B30-144[»]
1FH2X-ray1.80A/B21-147[»]
1FHNX-ray1.75A/B21-147[»]
1G1OX-ray2.30A/B/C/D21-147[»]
1GKOX-ray2.10A/B/C/D21-147[»]
1ICTX-ray3.00A/B/C/D/E/F/G/H21-147[»]
1IIIX-ray2.00A/B21-147[»]
1IIKX-ray2.00A/B21-147[»]
1IJNX-ray1.70A/B21-147[»]
1QABX-ray3.20A/B/C/D21-147[»]
1QWHX-ray1.36A/B31-147[»]
1RLBX-ray3.10A/B/C/D21-147[»]
1SOKX-ray1.60A/B21-147[»]
1SOQX-ray2.10A/B/C/D21-147[»]
1THAX-ray2.00A/B21-147[»]
1THCX-ray2.30A/B21-147[»]
1TLMX-ray1.90A/B21-147[»]
1TSHX-ray1.70A/B21-147[»]
1TT6X-ray1.80A/B21-147[»]
1TTAX-ray1.70A/B21-147[»]
1TTBX-ray1.70A/B21-147[»]
1TTCX-ray1.70A/B21-147[»]
1TTRX-ray1.90A/B21-147[»]
1TYRX-ray1.80A/B21-147[»]
1TZ8X-ray1.85A/B/C/D21-147[»]
1U21X-ray1.69A/B21-147[»]
1X7SX-ray1.55A/B21-147[»]
1X7TX-ray1.60A/B21-147[»]
1Y1DX-ray1.70A/B21-147[»]
1Z7JX-ray2.20A/B21-147[»]
1ZCRX-ray1.80A/B21-147[»]
1ZD6X-ray1.90A/B21-147[»]
2B14X-ray2.00A/B21-147[»]
2B15X-ray1.70A/B21-147[»]
2B16X-ray1.75A/B21-147[»]
2B77X-ray1.70A/B21-147[»]
2B9AX-ray1.54A/B21-147[»]
2F7IX-ray1.60A/B21-147[»]
2F8IX-ray1.54A/B21-147[»]
2FBRX-ray1.46A/B21-147[»]
2FLMX-ray1.65A/B21-147[»]
2G3XX-ray1.58A/B21-147[»]
2G3ZX-ray1.90A/B21-147[»]
2G4EX-ray2.17A/B21-147[»]
2G4GX-ray1.85A/B21-147[»]
2G5UX-ray1.80A/B21-147[»]
2G9KX-ray1.85A/B21-147[»]
2GABX-ray1.85A/B21-147[»]
2H4EX-ray1.45A/B21-147[»]
2M5NNMR-A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P125-135[»]
2NOYX-ray1.80A/B21-147[»]
2PABX-ray1.80A/B21-147[»]
2QELX-ray2.29A/B/C/D21-147[»]
2QGBX-ray1.40A/B21-147[»]
2QGCX-ray1.30A/B21-147[»]
2QGDX-ray1.50A/B21-147[»]
2QGEX-ray1.45A/B21-147[»]
2ROXX-ray2.00A/B21-147[»]
2ROYX-ray2.20A/B21-147[»]
2TRHX-ray1.90A/B21-147[»]
2TRYX-ray2.00A/B21-147[»]
2WQAX-ray2.85A/B/C/D21-147[»]
3A4DX-ray2.00A/B21-147[»]
3A4EX-ray1.70A/B21-147[»]
3A4FX-ray1.99A/B21-147[»]
3B56X-ray1.55A/B21-147[»]
3BSZX-ray3.38A/B/C/D21-147[»]
3BT0X-ray1.59A/B21-147[»]
3CBRX-ray1.70A/B21-147[»]
3CFMX-ray1.60A/B30-147[»]
3CFNX-ray1.87A/B30-147[»]
3CFQX-ray2.09A/B30-147[»]
3CFTX-ray1.87A/B30-147[»]
3CN0X-ray1.52A/B21-147[»]
3CN1X-ray1.52A/B21-147[»]
3CN2X-ray1.52A/B21-147[»]
3CN3X-ray1.80A/B21-147[»]
3CN4X-ray1.40A/B21-147[»]
3CXFX-ray2.30A/B21-147[»]
3D2TX-ray1.85A/B21-147[»]
3D7PX-ray1.72A/B21-147[»]
3DGDX-ray1.38A/B/C/D21-147[»]
3DIDX-ray1.78A/B/C/D21-147[»]
3DJRX-ray2.02A/B21-147[»]
3DJSX-ray1.80A/B21-147[»]
3DJTX-ray2.30A/B21-147[»]
3DJZX-ray1.82A/B21-147[»]
3DK0X-ray1.87A/B21-147[»]
3DK2X-ray2.35A/B21-147[»]
3DO4X-ray2.40A/B/C/D/E/F/G/H21-147[»]
3ESNX-ray1.35A/B21-147[»]
3ESOX-ray1.31A/B21-147[»]
3ESPX-ray1.31A/B21-147[»]
3FC8X-ray1.85A/B21-144[»]
3FCBX-ray1.80A/B21-144[»]
3GLZX-ray1.78A/B21-147[»]
3GPSX-ray1.78A/B/C/D21-147[»]
3GRBX-ray1.75A/B/C/D21-147[»]
3GRGX-ray1.90A/B/C/D21-147[»]
3GS0X-ray1.85A/B21-147[»]
3GS4X-ray1.78A/B21-147[»]
3GS7X-ray1.80A/B21-147[»]
3HJ0X-ray1.34A/B21-147[»]
3I9AX-ray1.65A/B21-147[»]
3I9IX-ray1.80A/B30-145[»]
3I9PX-ray1.90A/B30-145[»]
3IMRX-ray1.70A/B21-147[»]
3IMSX-ray1.40A/B21-147[»]
3IMTX-ray1.40A/B21-147[»]
3IMUX-ray1.40A/B21-147[»]
3IMVX-ray1.47A/B21-147[»]
3IMWX-ray1.31A/B21-147[»]
3IPBX-ray1.90A/B21-147[»]
3IPEX-ray1.40A/B21-147[»]
3KGSX-ray1.80A/B21-147[»]
3KGTX-ray1.95A/B21-147[»]
3KGUX-ray1.85A/B21-147[»]
3M1OX-ray1.20A/B21-147[»]
3NEEX-ray1.55A/B30-145[»]
3NEOX-ray2.00A/B30-145[»]
3NESX-ray1.75A/B30-145[»]
3NEXX-ray1.70A/B30-145[»]
3NG5X-ray1.70A/B21-147[»]
3OZKX-ray1.90A/B21-147[»]
3OZLX-ray1.90A/B21-147[»]
3P3RX-ray1.25A/B21-147[»]
3P3SX-ray1.60A/B21-147[»]
3P3TX-ray1.45A/B21-147[»]
3P3UX-ray1.50A/B21-147[»]
3SSGX-ray2.00A21-147[»]
3TCTX-ray1.30A/B21-147[»]
3TFBX-ray2.03A/B30-145[»]
3U2IX-ray1.70A/B32-147[»]
3U2Jneutron diffraction2.00A/B32-147[»]
3W3BX-ray1.90A/B21-147[»]
4ABQX-ray1.70A/B21-144[»]
4ABUX-ray1.86A/B21-144[»]
4ABVX-ray1.80A/B21-144[»]
4ABWX-ray1.70A/B21-144[»]
4AC2X-ray1.81A/B21-144[»]
4AC4X-ray1.80A/B21-147[»]
4ACTX-ray1.80A/B21-147[»]
4ANKX-ray1.70A/B1-147[»]
4DERX-ray1.90A/B30-145[»]
4DESX-ray1.75A/B30-145[»]
4DETX-ray2.05A/B30-145[»]
4DEUX-ray1.60A/B30-145[»]
4DEWX-ray1.90A/B1-147[»]
4FI6X-ray1.46A/B21-147[»]
4FI7X-ray1.40A/B21-147[»]
4FI8X-ray1.22A/B21-147[»]
4HIQX-ray1.18A/B21-147[»]
4HISX-ray1.20A/B21-147[»]
4HJSX-ray1.22A/B30-145[»]
4HJTX-ray1.45A/B21-147[»]
4HJUX-ray1.35A/B21-147[»]
4I85X-ray1.67A/B21-147[»]
4I87X-ray1.69A/B21-147[»]
4I89X-ray1.69A/B21-147[»]
4IIZX-ray2.10A/B21-147[»]
4IK6X-ray2.00A/B21-147[»]
4IK7X-ray2.10A/B21-147[»]
4IKIX-ray2.00A/B21-147[»]
4IKJX-ray2.10A/B21-147[»]
4IKKX-ray1.90A/B21-147[»]
4IKLX-ray1.90A/B21-147[»]
4KY2X-ray1.13A/B21-147[»]
4L1SX-ray1.50A/B21-147[»]
4L1TX-ray1.16A/B21-147[»]
4MASX-ray1.22A/B21-147[»]
4MRBX-ray1.27A/B21-147[»]
4MRCX-ray1.54A/B22-147[»]
4N85X-ray1.60A/B1-147[»]
4N86X-ray2.00A/B1-147[»]
4N87X-ray1.79A/B1-147[»]
5TTRX-ray2.70A/B/C/D/E/F/G/H21-147[»]
ProteinModelPortaliP02766.
SMRiP02766. Positions 30-145.

Miscellaneous databases

EvolutionaryTraceiP02766.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni135 – 1395Thyroid hormone binding

Domaini

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.

Sequence similaritiesi

Belongs to the transthyretin family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG321124.
HOGENOMiHOG000251776.
HOVERGENiHBG000285.
InParanoidiP02766.
OMAiRRYTIAA.
OrthoDBiEOG7S4X7V.
PhylomeDBiP02766.
TreeFamiTF300210.

Family and domain databases

Gene3Di2.60.40.180. 1 hit.
InterProiIPR023418. Thyroxine_BS.
IPR000895. Transthyretin/HIU_hydrolase.
IPR023416. Transthyretin/HIU_hydrolase_SF.
IPR023419. Transthyretin_CS.
[Graphical view]
PfamiPF00576. Transthyretin. 1 hit.
[Graphical view]
PRINTSiPR00189. TRNSTHYRETIN.
SMARTiSM00095. TR_THY. 1 hit.
[Graphical view]
SUPFAMiSSF49472. SSF49472. 1 hit.
PROSITEiPS00768. TRANSTHYRETIN_1. 1 hit.
PS00769. TRANSTHYRETIN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02766-1 [UniParc]FASTAAdd to Basket

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MASHRLLLLC LAGLVFVSEA GPTGTGESKC PLMVKVLDAV RGSPAINVAV    50
HVFRKAADDT WEPFASGKTS ESGELHGLTT EEEFVEGIYK VEIDTKSYWK 100
ALGISPFHEH AEVVFTANDS GPRRYTIAAL LSPYSYSTTA VVTNPKE 147
Length:147
Mass (Da):15,887
Last modified:March 20, 1987 - v1
Checksum:i3A6AEBCBBA56BC44
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261G → S Common polymorphism. 5 Publications
Corresponds to variant rs1800458 [ dbSNP | Ensembl ].
VAR_007546
Natural varianti30 – 301C → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007547
Natural varianti32 – 321L → P in AMYL-TTR. 2 Publications
VAR_038959
Natural varianti33 – 331M → I.1 Publication
VAR_038960
Natural varianti38 – 381D → E in AMYL-TTR; amyloid polyneuropathy.
VAR_007548
Natural varianti38 – 381D → G in AMYL-TTR; leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway. 2 Publications
VAR_007549
Natural varianti40 – 401V → I in AMYL-TTR; late-onset amyloid polyneuropathy with carpal tunnel syndrome. 2 Publications
VAR_007550
Natural varianti43 – 431S → N in AMYL-TTR. 1 Publication
VAR_038961
Natural varianti44 – 441P → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
Corresponds to variant rs11541790 [ dbSNP | Ensembl ].
VAR_007551
Natural varianti48 – 481V → M in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_010658
Natural varianti50 – 501V → A in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007552
Natural varianti50 – 501V → G in AMYL-TTR. 1 Publication
VAR_038962
Natural varianti50 – 501V → L in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007553
Natural varianti50 – 501V → M in AMYL-TTR; amyloid polyneuropathy; by far the most frequent mutation. 11 Publications
Corresponds to variant rs28933979 [ dbSNP | Ensembl ].
VAR_007554
Natural varianti53 – 531F → C in a patient with amyloidosis. 2 Publications
VAR_038963
Natural varianti53 – 531F → I in AMYL-TTR; Jewish 'SKO' amyloid polyneuropathy. 2 Publications
VAR_007555
Natural varianti53 – 531F → L in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007556
Natural varianti53 – 531F → V in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_038964
Natural varianti54 – 541R → T in AMYL-TTR. 1 Publication
VAR_038965
Natural varianti55 – 551K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_038966
Natural varianti56 – 561A → P in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007557
Natural varianti58 – 581D → A in AMYL-TTR. 2 Publications
VAR_038967
Natural varianti58 – 581D → V in AMYL-TTR. 2 Publications
VAR_038968
Natural varianti61 – 611W → L in AMYL-TTR. 1 Publication
VAR_038969
Natural varianti62 – 621E → D in AMYL-TTR. 1 Publication
Corresponds to variant rs11541796 [ dbSNP | Ensembl ].
VAR_038970
Natural varianti62 – 621E → G in AMYL-TTR; amyloid polyneuropathy. 2 Publications
Corresponds to variant rs11541796 [ dbSNP | Ensembl ].
VAR_007558
Natural varianti64 – 641F → S in AMYL-TTR. 2 Publications
VAR_038971
Natural varianti65 – 651A → D in AMYL-TTR; amyloid cardiomyopathy.
VAR_007559
Natural varianti65 – 651A → S in AMYL-TTR. 1 Publication
VAR_038972
Natural varianti65 – 651A → T in AMYL-TTR; amyloid cardiomyopathy. 2 Publications
VAR_007560
Natural varianti67 – 671G → A in AMYL-TTR; amyloid polyneuropathy. 2 Publications
VAR_007561
Natural varianti67 – 671G → E in AMYL-TTR. 2 Publications
VAR_038973
Natural varianti67 – 671G → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007562
Natural varianti67 – 671G → V in AMYL-TTR; amyloid polyneuropathy with carpal tunnel syndrome.
VAR_007563
Natural varianti69 – 691T → A in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007564
Natural varianti69 – 691T → I in AMYL-TTR. 2 Publications
VAR_038974
Natural varianti70 – 701S → I in AMYL-TTR; amyloid cardiomyopathy. 1 Publication
VAR_007565
Natural varianti70 – 701S → R in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007566
Natural varianti72 – 721S → P in AMYL-TTR; amyloid polyneuropathy.
VAR_007567
Natural varianti73 – 731G → E in AMYL-TTR. 1 Publication
VAR_038975
Natural varianti74 – 741E → G in AMYL-TTR; amyloid polyneuropathy.
VAR_007568
Natural varianti74 – 741E → K in AMYL-TTR; early-onset amyloid polyneuropathy. 1 Publication
VAR_038976
Natural varianti75 – 751L → P in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007569
Natural varianti75 – 751L → Q in AMYL-TTR. 1 Publication
VAR_038977
Natural varianti78 – 781L → H in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007570
Natural varianti78 – 781L → R in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007571
Natural varianti79 – 791T → K in AMYL-TTR; amyloid cardiomyopathy. 1 Publication
VAR_007572
Natural varianti80 – 801T → A in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 4 Publications
VAR_007573
Natural varianti81 – 811E → G in AMYL-TTR. 1 Publication
VAR_038978
Natural varianti81 – 811E → K in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007574
Natural varianti84 – 841F → L in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007575
Natural varianti88 – 881I → L in AMYL-TTR; amyloid cardiomyopathy. 2 Publications
VAR_007576
Natural varianti89 – 891Y → H in AMYL-TTR; leptomeningeal amyloidosis; vitreous amyloid in some patients. 1 Publication
VAR_007577
Natural varianti90 – 901K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007578
Natural varianti91 – 911V → A in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007579
Natural varianti93 – 931I → V in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007580
Natural varianti94 – 941D → H.
VAR_007581
Natural varianti97 – 971S → Y in AMYL-TTR; amyloid polyneuropathy. 4 Publications
VAR_007582
Natural varianti98 – 981Y → F in AMYL-TTR. 3 Publications
VAR_038979
Natural varianti104 – 1041I → N in AMYL-TTR; vitrous amyloid. 1 Publication
VAR_007583
Natural varianti104 – 1041I → S in AMYL-TTR; amyloid polyneuropathy; almost no RBP binding. 3 Publications
VAR_007584
Natural varianti104 – 1041I → T in AMYL-TTR. 1 Publication
VAR_038980
Natural varianti109 – 1091E → K in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_010659
Natural varianti109 – 1091E → Q in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 2 Publications
VAR_007585
Natural varianti110 – 1101H → N.2 Publications
VAR_007586
Natural varianti111 – 1111A → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007587
Natural varianti114 – 1141V → A in a patient with amyloidosis. 2 Publications
VAR_038981
Natural varianti117 – 1171A → G in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007588
Natural varianti117 – 1171A → S in AMYL-TTR. 1 Publication
VAR_038982
Natural varianti121 – 1211G → S.2 Publications
VAR_007589
Natural varianti122 – 1221P → R.
VAR_007590
Natural varianti124 – 1241R → C.
VAR_007591
Natural varianti124 – 1241R → H.2 Publications
Corresponds to variant rs121918095 [ dbSNP | Ensembl ].
VAR_038983
Natural varianti126 – 1261T → N in AMYL-TTR. 1 Publication
VAR_038984
Natural varianti127 – 1271I → M in AMYL-TTR. 1 Publication
VAR_038985
Natural varianti127 – 1271I → V in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007592
Natural varianti129 – 1291A → T in HTDE; increased affinity for thyroxine. 2 Publications
VAR_007593
Natural varianti131 – 1311L → M in AMYL-TTR. 1 Publication
VAR_007594
Natural varianti134 – 1341Y → C in AMYL-TTR; amyloid polyneuropathy. 3 Publications
VAR_007595
Natural varianti134 – 1341Y → H in CTS1; amyloid deposit on carpal tunnel; patients show no other abnormalities. 1 Publication
VAR_007598
Natural varianti136 – 1361Y → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication
VAR_007596
Natural varianti136 – 1361Y → V Requires 2 nucleotide substitutions. 1 Publication
VAR_007597
Natural varianti139 – 1391T → M in Chicago variant. 4 Publications
Corresponds to variant rs28933981 [ dbSNP | Ensembl ].
VAR_007599
Natural varianti140 – 1401A → S in AMYL-TTR. 1 Publication
VAR_038986
Natural varianti142 – 1421V → A in AMYL-TTR. 1 Publication
VAR_038987
Natural varianti142 – 1421V → I in AMYL-TTR. 3 Publications
Corresponds to variant rs28933980 [ dbSNP | Ensembl ].
VAR_007600
Natural varianti144 – 1441N → S in AMYL-TTR. 1 Publication
VAR_038988

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411R → P in AAA98771. 1 Publication
Sequence conflicti147 – 1471E → D in CAG33189. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
K02091 mRNA. Translation: AAA60011.1.
M10605 mRNA. Translation: AAA60012.1.
M11518 Genomic DNA. Translation: AAA98771.1.
M11844 Genomic DNA. Translation: AAA60013.1.
X59498 mRNA. Translation: CAA42087.1.
D00096 mRNA. Translation: BAA00059.1.
M15517, M15515, M15516 Genomic DNA. Translation: AAA60018.1.
U19780 mRNA. Translation: AAA73473.1.
AF162690 mRNA. Translation: AAD45014.1.
AK312051 mRNA. Translation: BAG34987.1.
BT007189 mRNA. Translation: AAP35853.1.
CR456908 mRNA. Translation: CAG33189.1.
CH471088 Genomic DNA. Translation: EAX01264.1.
BC005310 mRNA. Translation: AAH05310.1.
BC020791 mRNA. Translation: AAH20791.1.
S63185 Genomic DNA. Translation: AAD14937.2.
S72385 Genomic DNA. Translation: AAD14098.1.
M11714 mRNA. Translation: AAA61181.1.
M63285 Genomic DNA. Translation: AAA36784.1.
CCDSi