KEGG   NETWORK: N00872Help
Entry
N00872                      Network                                

Name
Mutation-activated KISS1R to KISS1-KISS1R-PLCB-PKC signaling pathway
Definition
KISS1 -> KISS1R* -> (GNAQ,GNA11) -> PLCB -> (Ca2+,DAG) -> PKC
  Expanded
3814 -> 84634v2 -> (2776,2767) -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582)
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Pathway
hsa04929  GnRH secretion
Disease
H02018  Central precocious puberty
H00937  Precocious puberty
Gene
3814  KISS1; KiSS-1 metastasis suppressor
84634  KISS1R; KISS1 receptor
2776  GNAQ; G protein subunit alpha q
2767  GNA11; G protein subunit alpha 11
23236  PLCB1; phospholipase C beta 1
5330  PLCB2; phospholipase C beta 2
5331  PLCB3; phospholipase C beta 3
5332  PLCB4; phospholipase C beta 4
5578  PRKCA; protein kinase C alpha
5579  PRKCB; protein kinase C beta
5582  PRKCG; protein kinase C gamma
Variant
84634v2  KISS1R activating mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
Reference
  Authors
Oakley AE, Clifton DK, Steiner RA
  Title
Kisspeptin signaling in the brain.
  Journal
Endocr Rev 30:713-43 (2009)
DOI:10.1210/er.2009-0005
Reference
  Authors
Teles MG, Silveira LF, Bianco S, Latronico AC
  Title
Human diseases associated with GPR54 mutations.
  Journal
Prog Mol Biol Transl Sci 88:33-56 (2009)
DOI:10.1016/S1877-1173(09)88002-2
Reference
  Authors
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
  Title
A GPR54-activating mutation in a patient with central precocious puberty.
  Journal
N Engl J Med 358:709-15 (2008)
DOI:10.1056/NEJMoa073443
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