Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Transthyretin  

UniProtKB / Swiss-Prot ID :  TTHY_HUMAN

Gene Name (Synonyms) : 
TTR, PALB  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Secreted. Cytoplasm. 

Protein Function :  Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. 

Protein Sequence MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTS...
Predicted Secondary Structure CCHHHHHHHHHHHHHHHHCCCCCCCCCCCCCEEEEEEECCCCCCCCCCEEEEEEECCCCCEEEEEEEEEC...
Protein Variant
LocationDescription
26G -> S (common polymorphism;dbSNP:rs1800458).
30C -> R (in AMYL-TTR; amyloidpolyneuropathy).
32L -> P (in AMYL-TTR). VAR_038959
33M -> I. VAR_038960
38D -> E (in AMYL-TTR; amyloidpolyneuropathy).
38D -> G (in AMYL-TTR; leptomeningealamyloidosis).
40V -> I (in AMYL-TTR; late-onset amyloidpolyneuropathy with carpal tunnel
43S -> N (in AMYL-TTR). VAR_038961
44P -> S (in AMYL-TTR; amyloidpolyneuropathy; dbSNP:rs11541790).
48V -> M (in AMYL-TTR; amyloidpolyneuropathy).
50V -> A (in AMYL-TTR; amyloidpolyneuropathy).
50V -> G (in AMYL-TTR). VAR_038962
50V -> L (in AMYL-TTR; amyloidpolyneuropathy).
50V -> M (in AMYL-TTR; amyloidpolyneuropathy; by far the most frequent
53F -> C (in a patient with amyloidosis). VAR_038963
53F -> I (in AMYL-TTR; Jewish 'SKO' amyloidpolyneuropathy).
53F -> L (in AMYL-TTR; amyloidpolyneuropathy).
53F -> V (in AMYL-TTR; amyloidpolyneuropathy).
54R -> T (in AMYL-TTR). VAR_038965
55K -> N (in AMYL-TTR; amyloidpolyneuropathy).
56A -> P (in AMYL-TTR; amyloidpolyneuropathy).
58D -> A (in AMYL-TTR). VAR_038967
58D -> V (in AMYL-TTR). VAR_038968
61W -> L (in AMYL-TTR). VAR_038969
62E -> D (in AMYL-TTR; dbSNP:rs11541796). VAR_038970
62E -> G (in AMYL-TTR; amyloidpolyneuropathy; dbSNP:rs11541796).
64F -> S (in AMYL-TTR). VAR_038971
65A -> D (in AMYL-TTR; amyloidcardiomyopathy).
65A -> S (in AMYL-TTR). VAR_038972
65A -> T (in AMYL-TTR; amyloidcardiomyopathy).
67G -> A (in AMYL-TTR; amyloidpolyneuropathy).
67G -> E (in AMYL-TTR). VAR_038973
67G -> R (in AMYL-TTR; amyloidpolyneuropathy).
67G -> V (in AMYL-TTR; amyloidpolyneuropathy with carpal tunnel
69T -> A (in AMYL-TTR; amyloidpolyneuropathy).
69T -> I (in AMYL-TTR). VAR_038974
70S -> I (in AMYL-TTR; amyloidcardiomyopathy).
70S -> R (in AMYL-TTR; amyloidpolyneuropathy).
72S -> P (in AMYL-TTR; amyloidpolyneuropathy).
73G -> E (in AMYL-TTR). VAR_038975
74E -> G (in AMYL-TTR; amyloidpolyneuropathy).
74E -> K (in AMYL-TTR; early-onset amyloidpolyneuropathy).
75L -> P (in AMYL-TTR; amyloidpolyneuropathy).
75L -> Q (in AMYL-TTR). VAR_038977
78L -> H (in AMYL-TTR; amyloidpolyneuropathy).
78L -> R (in AMYL-TTR; amyloidpolyneuropathy).
79T -> K (in AMYL-TTR; amyloidcardiomyopathy).
80T -> A (in AMYL-TTR; amyloidpolyneuropathy and cardiomyopathy).
81E -> G (in AMYL-TTR). VAR_038978
81E -> K (in AMYL-TTR; amyloidpolyneuropathy).
84F -> L (in AMYL-TTR; amyloidpolyneuropathy).
88I -> L (in AMYL-TTR; amyloidcardiomyopathy).
89Y -> H (in AMYL-TTR; leptomeningealamyloidosis; vitreous amyloid in some
90K -> N (in AMYL-TTR; amyloidpolyneuropathy).
91V -> A (in AMYL-TTR; amyloidpolyneuropathy).
93I -> V (in AMYL-TTR; amyloidpolyneuropathy).
94D -> H. VAR_007581
97S -> Y (in AMYL-TTR; amyloidpolyneuropathy).
98Y -> F (in AMYL-TTR). VAR_038979
104I -> N (in AMYL-TTR; vitrous amyloid). VAR_007583
104I -> S (in AMYL-TTR; amyloidpolyneuropathy; almost no RBP binding).
104I -> T (in AMYL-TTR). VAR_038980
109E -> K (in AMYL-TTR; amyloidpolyneuropathy).
109E -> Q (in AMYL-TTR; amyloidpolyneuropathy and cardiomyopathy).
110H -> N. VAR_007586
111A -> S (in AMYL-TTR; amyloidpolyneuropathy).
114V -> A (in a patient with amyloidosis). VAR_038981
117A -> G (in AMYL-TTR; amyloidpolyneuropathy).
117A -> S (in AMYL-TTR). VAR_038982
121G -> S. VAR_007589
122P -> R. VAR_007590
124R -> C. VAR_007591
124R -> H. VAR_038983
126T -> N (in AMYL-TTR). VAR_038984
127I -> M (in AMYL-TTR). VAR_038985
127I -> V (in AMYL-TTR; amyloidpolyneuropathy).
129A -> T (in HTDE; increased affinity forthyroxine).
131L -> M (in AMYL-TTR). VAR_007594
134Y -> C (in AMYL-TTR; amyloidpolyneuropathy).
134Y -> H (in CTS1; amyloid deposit oncarpal tunnel; patients show no other
136Y -> S (in AMYL-TTR; amyloidpolyneuropathy).
136Y -> V (requires 2 nucleotidesubstitutions).
139T -> M (in Chicago variant;dbSNP:rs28933981).
140A -> S (in AMYL-TTR). VAR_038986
142V -> A (in AMYL-TTR). VAR_038987
142V -> I (in AMYL-TTR; dbSNP:rs28933980). VAR_007600
144N -> S (in AMYL-TTR). VAR_038988
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
10S-nitrosocysteineLLLLCLAGL
HHHHHHHHH
2.17dbSNO
Link-
624-carboxyglutamate; in a patient withMoyamoya disease.DDTWEPFAS
CCCEEEEEE
32.41UniProtKB
Link
118N-linked (GlcNAc...).VFTANDSGP
EEEEECCCC
40.71UniProtKB
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
HNRH3_HUMANphysical interactionMINT-63656MINT16169070
DDR1_HUMANphysical interactionMINT-64070MINT16169070
GOGA2_HUMANcolocalizationMINT-4793552MINT17431395
CHD3_HUMANphysical interactionMINT-63352MINT16169070
Q5JR01_HUMANphysical interactionMINT-63348MINT16169070
Q8N9S6_HUMANphysical interactionMINT-63350MINT16169070
Q96AQ3_HUMANphysical interactionMINT-68352MINT16189514
FEZ1_HUMANphysical interactionMINT-63351MINT16169070
FEZ1_HUMANphysical interactionEBI-733663
intact16169070
EF1A1_HUMANphysical interactionEBI-729411
intact16169070
ELP1_HUMANphysical interactionEBI-729414
intact16169070
CHD3_HUMANphysical interactionEBI-731056
intact16169070
SETB1_HUMANphysical interactionEBI-731059
intact16169070
VIME_HUMANphysical interactionEBI-731062
intact16169070
PGBM_HUMANin vitro
in vivo
HPRD:01447HPRD9307034
TTHY_HUMANin vitroHPRD:01447HPRD16185074
VIME_HUMANyeast 2-hybridHPRD:01447HPRD16169070
DDR1_HUMANyeast 2-hybridHPRD:01447HPRD16169070
MARK3_HUMANyeast 2-hybridHPRD:01447HPRD16169070
ELP1_HUMANyeast 2-hybridHPRD:01447HPRD16169070
ATF4_HUMANyeast 2-hybridHPRD:01447HPRD16189514
SETB1_HUMANyeast 2-hybridHPRD:01447HPRD16169070
CHD3_HUMANyeast 2-hybridHPRD:01447HPRD16169070
FEZ1_HUMANyeast 2-hybridHPRD:01447HPRD16169070
CG020_HUMANyeast 2-hybridHPRD:01447HPRD16169070
PHYIP_HUMANyeast 2-hybridHPRD:01447HPRD16169070
APOA1_HUMANENSP00000237014STRING
TRFE_HUMANENSP00000237014STRING
RB_HUMANENSP00000237014STRING
A4_HUMANENSP00000237014STRING
ALBU_HUMANENSP00000237014STRING
ALBU_HUMANENSP00000237014STRING
A1AT_HUMANENSP00000237014STRING
A1AT_HUMANENSP00000237014STRING
A1AT_HUMANENSP00000237014STRING
A1AT_HUMANENSP00000237014STRING
A1AT_HUMANENSP00000237014STRING
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Disease Reference
Kegg disease
OMIM disease
105210Amyloidosis, transthyretin-related (AMYL-TTR)
145680Hyperthyroxinemia, dystransthyretinemic (DTTRH)
115430Carpal tunnel syndrome 1 (CTS1)
Drug Reference
DrugBank
DB00586Diclofenac
DB00255Diethylstilbestrol
DB00861Diflunisal
DB01093Dimethyl sulfoxide
DB00451Levothyroxine
DB00279Liothyronine
DB01583Liotrix
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Related Literatures of Post-Translational Modification
Gamma-carboxyglutamic acid
ReferencePubMed
"Detection of a gamma-carboxy-glutamate as novel post-translationalmodification of human transthyretin.";
Rueggeberg S., Horn P., Li X., Vajkoczy P., Franz T.;
Protein Pept. Lett. 15:43-46(2008).
Cited for: GAMMA-CARBOXYGLUTAMATION AT GLU-62, AND MASS SPECTROMETRY.
N-linked Glycosylation
ReferencePubMed
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction,hydrazide chemistry, and mass spectrometry.";
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,Moore R.J., Smith R.D.;
J. Proteome Res. 4:2070-2080(2005).
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-118, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures