The GAIN domain (

G-protein-coupled receptor G protein-coupled receptors (GPCRs), also known as seven-(pass)-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptors, and G protein-linked receptors (GPLR), form a large group of evolutionarily-related p ...

(GPCR) autoproteolysis-inducing domain) is a

protein domain In molecular biology, a protein domain is a region of a protein's polypeptide chain that is self-stabilizing and that folds independently from the rest. Each domain forms a compact folded three-dimensional structure. Many proteins consist of ...

found in a number of cell surface receptors, including

adhesion-GPCRs Adhesion G protein-coupled receptors (adhesion GPCRs) are a class of 33 human protein Receptor (biochemistry), receptors with a broad distribution in embryonic and larval cells, cells of the reproductive tract, neurons, leukocytes, and a variety ...

and polycystic kidney disease proteins

PKD1 Polycystin 1 (often abbreviated to PC1) is a protein that in humans is encoded by the ''PKD1'' gene. Mutations of ''PKD1'' are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys ...

and

PKD2 Polycystin-2 is a protein that in humans is encoded by the ''PKD2'' gene. This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, a ...

. The domain is involved in the self-cleavage of these transmembrane receptors, and has been shown to be crucial for their function . Point mutations within the GAIN domain of PKD1 and

GPR56 G protein-coupled receptor 56 also known as TM7XN1 is a protein encoded by the ''ADGRG1'' gene. GPR56 is a member of the adhesion GPCR family. Adhesion GPCRs are characterized by an extended extracellular region often possessing N-terminal protei ...

are known to cause

polycystic kidney disease Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These c ...

and

polymicrogyria Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri ( microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region o ...

, respectively.

References

Protein domains Receptors Cell adhesion proteins G protein-coupled receptors Cell signaling Signal transduction {{Transmembranereceptor-stub