KEGG   NETWORK: N00871
Entry
N00871                      Network                                

Name
Mutation-inactivated KISS1R to KISS1-KISS1R-PLCB-PKC signaling pathway
Definition
KISS1 -> KISS1R* // (GNAQ,GNA11) -> PLCB -> (Ca2+,DAG) -> PKC
  Expanded
3814 -> 84634v1 // (2776,2767) -> (23236,5330,5331,5332) -> (C00076,C00165) -> (5578,5579,5582)
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
nt06361 Hypogonadotropic hypogonadism
Type
Variant
Disease
H00255  Hypogonadotropic hypogonadism
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
84634v1 (KISS1R*)  KISS1R inactivaing mutation
Metabolite
C00076  Calcium cation
C00165  Diacylglycerol
Reference
  Authors
Nimri R, Lebenthal Y, Lazar L, Chevrier L, Phillip M, Bar M, Hernandez-Mora E, de Roux N, Gat-Yablonski G
  Title
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
  Journal
J Clin Endocrinol Metab 96:E536-45 (2011)
DOI:10.1210/jc.2010-1676
Reference
  Authors
Silveira LG, Tusset C, Latronico AC
  Title
Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.
  Journal
Brain Res 1364:72-80 (2010)
DOI:10.1016/j.brainres.2010.08.087
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
LinkDB

DBGET integrated database retrieval system