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P02766

- TTHY_HUMAN

UniProt

P02766 - TTHY_HUMAN

Protein

Transthyretin

Gene

TTR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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

    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.64 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 8 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. 2 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. 1 Publication
    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. 1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 20206 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...)3 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.3 Publications

    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 RBP4.13 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.
    ModBaseiSearch...
    MobiDBiSearch...

    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.Curated

    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

    « Hide

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti41 – 411R → P in AAA98771. (PubMed:4054629)Curated
    Sequence conflicti147 – 1471E → D in CAG33189. 1 PublicationCurated

    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. 1 Publication
    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. 8 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. 2 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. 1 Publication
    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.1 Publication
    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. 1 Publication
    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. 3 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 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.