Source: hRBCD ; ID: IPI00028642
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: TSHR , LGR3
Protein names and data: TSHR_HUMAN , Thyrotropin receptor , Thyroid-stimulating hormone receptor; TSH-R; Flags: Precursor Lenght: 764 a.a.
Mass: 86830 Da
fasta formatted sequence

Function: Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also acts as a receptor for thyrostimulin (GPA2+GPB5).
Cellular location: Cell membrane; Multi-pass membrane protein.
Tissue specificity: Expressed in the thyroid.

Genetic variants

The Asp727Glu polymorphism is associated with Graves disease in a Russian population. The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the presence of the gain-of- function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR.

Database cross-references

UniProt: P16473
Ensembl: ENST00000342443
Ensembl: ENST00000554435
MIM: 275200
MIM: 603372
MIM: 603373
MIM: 609152
neXtProt: NX_P16473
Antibodypedia: P16473 (may not find the protein thus also not any antibody)
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