TSHR - thyroid stimulating hormone receptor Gene
Also Known as LGR3; CHNG1; hTSHR-I
Species: Homo sapiens
About TSHR
This gene has 12 transcripts (splice variants), 260 orthologues, 2 paralogues and is associated with 106 phenotypes. Restricted expression toward thyroid (RPKM 104.1).
Summary
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by Adenylate Cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
TSHR Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001142626.3 | NP_001136098.1 | thyrotropin receptor isoform 3 precursor |
| XM_011537119.3 | XP_011535421.1 | thyrotropin receptor isoform X1 |
| NM_000369.5 | NP_000360.2 | thyrotropin receptor isoform 1 precursor |
| NM_001018036.3 | NP_001018046.1 | thyrotropin receptor isoform 2 |
| NM_000369.5 | NP_000360.2 | thyrotropin receptor isoform 1 precursor |
| NM_001018036.3 | NP_001018046.1 | thyrotropin receptor isoform 2 |
| NM_001142626.3 | NP_001136098.1 | thyrotropin receptor isoform 3 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15775968 | GOA |
| enables protein-containing complex binding |
IDA
IDA: Inferred from direct assay
|
12045258 | GOA |
| enables signaling receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
12045258 | GOA |
| enables thyroid-stimulating hormone receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
12045258 | GOA |
| involved in cell surface receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
12045258 | GOA |
| involved in cellular response to glycoprotein |
IMP
IMP: Inferred from mutant phenotype
|
12045258 | GOA |
| involved in cellular response to thyrotropin-releasing hormone |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| involved in thyroid-stimulating hormone signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
11847099 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
11847099 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
TSHR Protein Structure
LRR_8: Leucine rich repeat (52 - 111)
LRR_5: Leucine rich repeats (6 copies) (164 - 222)
7tm_1: 7 transmembrane receptor (rhodopsin family) (431 - 678)
- 0
- 200
- 400
- 600
- 764 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thyrotropin receptor |
|
|
TSHR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TSHR | P16473 | ADORA1 | Homo sapiens | P30542 | 28298427 | |
|
Intra
|
TSHR | P16473 | SCRIB | Homo sapiens | Q14160 | 15775968 | |
|
Intra
|
TSHR | P16473 | SYT1 | Homo sapiens | P21579 | 28298427 | |
|
Intra
|
TSHR | P16473 | MID1IP1 | Homo sapiens | Q9NPA3 | 28298427 |
TSHR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81507 | TSH Receptor/TSH-R Antibody (YA1252) | IHC-P | Human |
| HY-P81507A | TSH Receptor/TSH-R Antibody (YA1252)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Thyroid Gland Disease |
|
|
| Chronic Orbital Inflammation |
|
|
| Multinodular Goiter |
|
|
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
|
| Plummer'S Disease |
|
|
| Lagophthalmos |
|
|
| Subacute Thyroiditis |
|
|
| Orbital Plasma Cell Granuloma |
|
|
| Thyroid Dyshormonogenesis 2a |
|
|
| Hyperthyroidism, Nonautoimmune |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
|
| Thyroiditis |
|
|
| Exophthalmos |
|
|
| Thyroid Crisis |
|
|
| Hyperthyroxinemia |
|
|
| Nontoxic Goiter |
|
|
| Suppurative Thyroiditis |
|
|
| Graves' Disease |
|
|
| Follicular Adenoma |
|
|
| Struma Ovarii |
|
|
| Neonatal Thyrotoxicosis |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Mucinoses |
|
|
| Myxedema |
|
|
| Thyroid Gland Cancer |
|
|
| Hypothyroidism |
|
|
| Hypotropia |
|
|
| Invasive Malignant Thymoma |
|
|
| Orbital Disease |
|
|
| Endemic Goiter |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
|
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
|
| Exposure Keratitis |
|
|
| Graves Ophthalmopathy |
|
|
| Thyroid Cancer, Nonmedullary, 2 |
|
|
| Precocious Puberty, Male-Limited |
|
|
| Eye Disease |
|
|
| Epilepsy |
|
|
| Subacute Lymphocytic Thyroiditis |
|
|
| Autoimmune Disease |
|
|
| Nodular Goiter |
|
|
| Congenital Hypothyroidism |
|
|
| Orthostatic Intolerance |
|
|
| Adenoma |
|
|
| Endocrine Exophthalmos |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Goiter |
|
|
| Excessive Tearing |
|
|
| Thyroid Gland Follicular Carcinoma |
|
|
| Hashimoto Thyroiditis |
|
|
| Iodine Hypothyroidism |
|
|
| Toxic Diffuse Goiter |
|
|
| Graves Disease 1 |
|
|
| Papillary Carcinoma |
|
|
| Hyperthyroidism, Familial Gestational |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Hyperthyroidism |
|
|
| Postsurgical Hypothyroidism |
|
|
| Thyrotoxic Exophthalmos |
|
|
| Athyreosis |
|
|
| Strabismus |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TSHR | VGNC | VGNC:78662 |
| Canis familiaris | TSHR | VGNC | VGNC:47902 |
| Bos taurus | TSHR | VGNC | VGNC:36419 |
| Mus musculus | TSHR | MGD | MGI:98849 |
| Felis catus | TSHR | VGNC | VGNC:66617 |
| Rattus norvegicus | TSHR | RGD | RGD:3911 |
| Others | TSHR | NCBI |