TTR - transthyretin Gene
Also Known as CTS; TTN; ATTR; CTS1; PALB; TBPA; HEL111; HsT2651
Species: Homo sapiens
About TTR
This gene has 7 transcripts (splice variants), 177 orthologues, 1 paralogue and is associated with 6 phenotypes. Restricted expression toward liver (RPKM 2070.5).
Summary
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid Hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in Other intracellular processes including proteolysis, nerve regeneration, Autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
TTR Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000371.4 | NP_000362.1 | transthyretin precursor |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
19861125 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
986177 | GOA |
TTR Protein Structure
Transthyretin: HIUase/Transthyretin family (30 - 140)
- 0
- 100
- 147 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transthyretin |
|
|
TTR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
TTR | P02766 | NECAB2 | Homo sapiens | Q7Z6G3-2 | 25416956 | |
|
Intra
|
TTR | P02766 | OTUB1 | Homo sapiens | Q96FW1 | 21900206 | |
|
Intra
|
TTR | P02766 | CDR2 | Homo sapiens | Q01850 | 25416956 | |
|
Intra
|
TTR | P02766 | AGER | Homo sapiens | Q15109 | 16716307 | |
|
Intra
|
TTR | P02766 | RBP4 | Homo sapiens | P02753 | 21777382 | |
|
Intra
|
TTR | P02766 | ATF4 | Homo sapiens | P18848 | 29892012 | |
|
Intra
|
TTR | P02766 | ATF4 | Homo sapiens | P18848 | 31515488 | |
|
Intra
|
TTR | P02766 | ATF5 | Homo sapiens | Q9Y2D1 | 32296183 | |
|
Intra
|
TTR | P02766 | ATF5 | Homo sapiens | Q9Y2D1 | 32296183 | |
|
Intra
|
TTR | P02766 | ATF5 | Homo sapiens | Q9Y2D1 | 32296183 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21740906 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21777382 | |
|
Intra
|
TTR | P02766 | P05067-PRO_0000000092 | Homo sapiens | P05067-PRO_0000000092 | 18272491 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21422279 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 23850452 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21740906 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 23792159 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21740906 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21422279 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 19861125 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21422279 | |
|
Intra
|
TTR | P02766 | TTR | Homo sapiens | P02766 | 21422279 | |
|
Intra
|
TTR | P02766 | NDUFA5 | Homo sapiens | Q16718 | 32296183 | |
|
Intra
|
TTR | P02766 | NDUFA5 | Homo sapiens | Q16718 | 32296183 | |
|
Intra
|
TTR | P02766 | NDUFA5 | Homo sapiens | Q16718 | 32296183 | |
|
Intra
|
TTR | P02766 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
TTR | P02766 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
TTR | P02766 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
TTR | P02766 | MT3 | Homo sapiens | P25713 | 20646067 | |
|
Intra
|
TTR | P02766 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
TTR | P02766 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
TTR | P02766 | METTL27 | Homo sapiens | Q8N6F8 | 32814053 | |
|
Intra
|
TTR | P02766 | INPP5A | Homo sapiens | Q14642 | 33961781 |
Recombinant TTR Proteins
| Cat. No. | Nom du produit | Accession | Pureté |
|---|---|---|---|
| HY-P70500 | Transthyretin/TTR Protein, Human (HEK293, His) | P02766 (G21-E147) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72026 | Transthyretin/TTR Protein, Human (HEK293, Fc-Myc) | P02766 (G21-E147) | ≥ 90%, as determined by reducing SDS-PAGE. |
TTR Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P81974 | Prealbumin Antibody (YA1719) | WB | Rat |
| HY-P81974A | Prealbumin Antibody (YA1719)(PBS only) | WB | Rat |
| HY-P85771 | Prealbumin Antibody (YA5463) | ICC/IF, WB, IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Heart Disease |
|
|
| Mononeuropathy |
|
|
| Mixed Cerebral Palsy |
|
|
| Hyperthyroxinemia |
|
|
| Restrictive Cardiomyopathy |
|
|
| Creutzfeldt-Jakob Disease |
|
|
| Alcoholic Neuropathy |
|
|
| Respiratory Failure |
|
|
| Acute Porphyria |
|
|
| Fundus Dystrophy |
|
|
| Middle Ear Adenocarcinoma |
|
|
| Polyneuropathy |
|
|
| Arteriosclerosis |
|
|
| Papillary Ependymoma |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
|
| Anorexia Nervosa |
|
|
| Arthritis |
|
|
| First-Degree Atrioventricular Block |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Nutritional Deficiency Disease |
|
|
| Carpal Tunnel Syndrome |
|
|
| Decubitus Ulcer |
|
|
| Dialysis-Related Amyloidosis |
|
|
| Median Neuropathy |
|
|
| Amyloid Neuropathy |
|
|
| Immunoglobulin Light Chain Amyloidosis |
|
|
| Amyloid Tumor |
|
|
| Phenylketonuria |
|
|
| Obstructive Jaundice |
|
|
| Analbuminemia |
|
|
| Pulmonary Coin Lesion |
|
|
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
|
|
| Hereditary Amyloidosis |
|
|
| Immunoglobulin Heavy Chain Amyloidosis |
|
|
| Gerstmann-Straussler Disease |
|
|
| Amyloidosis, Finnish Type |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Chronic Ulcer Of Skin |
|
|
| Amyloidosis |
|
|
| Carotenemia |
|
|
| Hypothyroidism |
|
|
| Autonomic Nervous System Disease |
|
|
| Middle Ear Carcinoma |
|
|
| Chronic Kidney Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Inclusion Body Myositis |
|
|
| Nervous System Disease |
|
|
| Euthyroid Dysprealbuminemic Hyperthyroxinemia |
|
|
| Autonomic Neuropathy |
|
|
| Hyperhomocysteinemia |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Eunuchism |
|
|
| Diastolic Heart Failure |
|
|
| Conjunctival Deposit |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Autonomic Peripheral Neuropathy |
|
|
| Hypertension, Essential |
|
|
| Pure Autonomic Failure |
|
|
| Asymmetric Motor Neuropathy |
|
|
| Amyloidosis, Familial Visceral |
|
|
| Heart Valve Disease |
|
|
| Papilloma Of Choroid Plexus |
|
|
| Diabetes Mellitus |
|
|
| Hepatic Encephalopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Liver Cirrhosis |
|
|
| Pericardial Effusion |
|
|
| Protein-Losing Enteropathy |
|
|
| Peripheral Nervous System Disease |
|
|
| Aortic Valve Disease 2 |
|
|
| Deficiency Anemia |
|
|
| Nerve Compression Syndrome |
|
|
| Pineal Region Choriocarcinoma |
|
|
| Autosomal Genetic Disease |
|
|
| Cataract |
|
|
| Mitral Valve Stenosis |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Choroid Plexus Cancer |
|
|
| Wild-Type Amyloidosis |
|
|
| Dysentery |
|
|
| Short Bowel Syndrome |
|
|
| Alopecia-Mental Retardation Syndrome 1 |
|
|
| Protein-Energy Malnutrition |
|
|
| Iron Metabolism Disease |
|
|
| Hypervitaminosis A |
|
|
| Marasmus |
|
|
| Mitral Valve Disease |
|
|
| Atrial Standstill 1 |
|
|
| Hydrocephalus |
|
|
| Molybdenum Cofactor Deficiency |
|
|
| Rheumatoid Arthritis |
|
|
| Diarrhea |
|
|
| Keratomalacia |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Epicardium Cancer |
|
|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Endocarditis |
|
|
| Demyelinating Polyneuropathy |
|
|
| Blepharochalasis |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Nephrotic Syndrome |
|
|
| Cerebrovascular Benign Neoplasm |
|
|
| Heart Conduction Disease |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Glossitis |
|
|
| Pericardium Disease |
|
|
| Serum Amyloid A Amyloidosis |
|
|
| Suppurative Uveitis |
|
|
| Cardiac Sarcoidosis |
|
|
| Barth Syndrome |
|
|
| Dementia |
|
|
| Hypertensive Heart Disease |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Cataract 7 |
|
|
| Scoliosis |
|
|
| Kidney Disease |
|
|
| Pancytopenia |
|
|
| Hyperthyroxinemia, Dystransthyretinemic |
|
|
| Paralytic Lagophthalmos |
|
|
| Central Nervous System Disease |
|
|
| Kwashiorkor |
|
|
| Constrictive Pericarditis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | TTR | VGNC | VGNC:47983 |
| Bos taurus | TTR | VGNC | VGNC:36499 |
| Rattus norvegicus | TTR | RGD | RGD:3916 |
| Felis catus | TTR | VGNC | VGNC:66693 |
| Mus musculus | TTR | MGD | MGI:98865 |
| Macaca mulatta | TTR | VGNC | VGNC:78671 |
| Others | TTR | NCBI |