KISS1
entrez
3814
canonical
uniprot
Q15726
canonical
ensembl
ENSG00000170498
resolver
ensp
ENSP00000356162
resolver
ensp
ENSP00000552504
resolver
enst
ENST00000367194
resolver
enst
ENST00000882445
resolver
genesymbol
KISS1
resolver
hgnc
HGNC:6341
resolver
uniprot
A8K6N0
resolver
uniprot
Q9HBP1
resolver
uniprot_entry
KISS1_HUMAN
resolver
uniprot_sec
A8K6N0
resolver
uniprot_sec
Q9HBP1
resolver
amino_acid_sequence
MNSLVSWQLLLFLCATHFGEPLEKVASVGNSRPTGQQLESLGLLAPGEQSLPCTERKPAATARLSRRGTSLSPPPESSGSPQQPGLSAPHSRQIPAPQGAVLVQREKDLPNYNWNSFGLRFGKREAAPGNHGRSAGRG
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 13 with or without anosmia (HH13) [MIM:614842]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:22335740}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Kisspeptins are ligands for the G protein-coupled receptor KISS1R/GPR54 (PubMed:11385580, PubMed:11457843, PubMed:11527393, PubMed:12879005, PubMed:15020672, PubMed:15596153). The hypothalamic KISS1/KISS1R signaling system plays a central role in the regulation of the hypothalamic-pituitary-gonadal reproductive axis by modulating the secretion of gonadotropin-releasing hormone (GnRH) from GnRH neurons (PubMed:15219839, PubMed:15598687, PubMed:22335740). In these neurons, kisspeptin binding to its receptor activates G(q)-dependent signaling, leading to phospholipase C (PLC) activation, and hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) (PubMed:15598687, PubMed:22335740). The subsequent rise in intracellular calcium levels results in the inhibition of inward rectifier potassium channels and activation of TRPC-like cation channels, leading to GnRH neurons depolarization and stimulation (By similarity). In addition to this pathway, kisspeptin also triggers G(q)-independent signaling via beta-arrestin, leading to MAPK cascade activation and ERK1/ERK2 phosphorylation (PubMed:25147978). Kisspeptins are also involved in the regulation of other processes including cell growth, cell proliferation and cell migration (PubMed:11385580, PubMed:11457843, PubMed:11527393, PubMed:12879005, PubMed:15020672, PubMed:15596153). {ECO:0000250|UniProtKB:Q6Y4S4, ECO:0000269|PubMed:11385580, ECO:0000269|PubMed:11457843, ECO:0000269|PubMed:11527393, ECO:0000269|PubMed:12879005, ECO:0000269|PubMed:15020672, ECO:0000269|PubMed:15219839, ECO:0000269|PubMed:15596153, ECO:0000269|PubMed:15598687, ECO:0000269|PubMed:22335740, ECO:0000269|PubMed:25147978}.; FUNCTION: [Kisspeptin-10]: Binds the G protein-coupled receptor KISS1R/GPR54 and triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol 4,5-bisphosphate (PIP2) hydrolysis by phospholipase C (PubMed:11457843, PubMed:22335740). Binding to the receptor also activates beta-arrestin-dependent signaling resulting in ERK1/2 phosphorylation (PubMed:11457843, PubMed:25147978). Activation of the receptor inhibits cell proliferation and cell migration, and is involved in the regulation of trophoblast invasion during early stages of pregnancy. Is also involved in the modulation of airway smooth muscle cells migration (PubMed:11457843, PubMed:15020672, PubMed:38512807). In bone tissue, activation of KISS1R by kisspeptin-10 recruits phosphatase DUSP18 and SRC to the KISS1R C-terminus through a G(q)-dependent signaling pathway. This leads to DUSP18-mediated dephosphorylation of SRC, down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption (By similarity). {ECO:0000250|UniProtKB:Q6Y4S4, ECO:0000269|PubMed:11457843, ECO:0000269|PubMed:15020672, ECO:0000269|PubMed:22335740, ECO:0000269|PubMed:25147978, ECO:0000269|PubMed:38512807}.; FUNCTION: [Metastin]: Receptor binding triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol 4,5-bisphosphate (PIP2) hydrolysis by phospholipase C. {ECO:0000269|PubMed:39151001}.
uniprot
proteins
mass_dalton
14705
uniprot
proteins
post_translational_modification
PTM: Processed by MMP2 and MMP9. {ECO:0000269|PubMed:12879005}.
uniprot
proteins
protein_family
KISS1 family
uniprot
proteins
pubmed
11385580
uniprot
proteins
pubmed
11457843
uniprot
proteins
pubmed
11527393
uniprot
proteins
pubmed
12414911
uniprot
proteins
pubmed
12574233
uniprot
proteins
pubmed
12879005
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15020672
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15219839
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15596153
uniprot
proteins
pubmed
15598687
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22335740
uniprot
proteins
pubmed
25147978
uniprot
proteins
pubmed
38512807
uniprot
proteins
pubmed
38935498
uniprot
proteins
pubmed
39151001
uniprot
proteins
pubmed
8944003
uniprot
proteins
pubmed
9806840
uniprot
proteins
sequence_length
138
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15020672}.
uniprot
proteins