KISS1R

KISS1 receptor
Identifiers
Symbol	?
NCBI gene	84634
HGNC	6315
OMIM	604161
RefSeq	NM_032551
UniProt	Q969F8
Search for Structures Swiss-model Domains InterPro

The KISS1 receptor (KISS1R), also known as GPR54, is a G-protein coupled receptor that is encoded by the KISS1R gene in humans. This receptor is integral to the regulation of the reproductive system, particularly in the onset of puberty and the maintenance of reproductive function.

Structure

KISS1R is a member of the rhodopsin family of G-protein coupled receptors. It is characterized by seven transmembrane domains, an extracellular N-terminus, and an intracellular C-terminus. The receptor is activated by its ligand, kisspeptin, which is a peptide product of the KISS1 gene.

Function

KISS1R plays a crucial role in the hypothalamic-pituitary-gonadal axis. It is primarily expressed in the hypothalamus, where it mediates the effects of kisspeptin on the release of gonadotropin-releasing hormone (GnRH). This, in turn, stimulates the secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) from the pituitary gland, which are essential for gonadal function and fertility.

Role in Puberty

KISS1R is essential for the initiation of puberty. Mutations in the KISS1R gene can lead to hypogonadotropic hypogonadism, a condition characterized by delayed or absent puberty and infertility. This highlights the receptor's role in the activation of the reproductive hormone cascade.

Role in Reproductive Health

Beyond puberty, KISS1R continues to influence reproductive health. It is involved in the regulation of the menstrual cycle and has been implicated in conditions such as polycystic ovary syndrome (PCOS) and endometriosis. Research is ongoing to fully elucidate its role in these and other reproductive disorders.

Clinical Significance

Mutations in the KISS1R gene have been associated with various reproductive disorders. Loss-of-function mutations can result in hypogonadotropic hypogonadism, while gain-of-function mutations may lead to precocious puberty. Understanding these mutations provides insight into potential therapeutic targets for treating reproductive disorders.

Research Directions

Current research is focused on understanding the broader implications of KISS1R signaling in reproductive and non-reproductive tissues. There is also interest in developing kisspeptin analogs or antagonists as potential therapeutic agents for reproductive disorders.

Also see

• Kisspeptin
• Gonadotropin-releasing hormone
• Hypogonadotropic hypogonadism
• Precocious puberty
• Polycystic ovary syndrome