KISS1R: Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine- tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins. Defects in KISS1R are a cause of idiopathic hypogonadotropic hypogonadism (IHH). IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Defects in KISS1R are a cause of central precocious puberty (CEPREPU). Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Central precocious puberty refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis. Belongs to the G-protein coupled receptor 1 family.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Cell cycle regulation; GPCR, family 1; Receptor, GPCR
Chromosomal Location of Human Ortholog: 19p13.3
Cellular Component: cell surface; plasma membrane; integral to membrane
Molecular Function: neuropeptide binding; neuropeptide receptor activity; protein binding
Biological Process: G-protein coupled receptor protein signaling pathway; negative regulation of cell proliferation; activation of MAPKK activity; neuropeptide signaling pathway; positive regulation of stress fiber formation; calcium-mediated signaling; positive regulation of hormone secretion; arachidonic acid secretion; positive regulation of synaptic transmission
Disease: Hypogonadotropic Hypogonadism 8 With Or Without Anosmia; Precocious Puberty, Central, 1
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