KEGG   NETWORK: N00912Help
Entry
N00912                      Network                                

Name
Mutation-activated GNAS to GHRHR-PKA-GH signaling pathway
Definition
GNAS* -> ADCY -> cAMP -> PKA -> CREB => POU1F1 => (GH1,GH2)
  Expanded
2778v1 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> (10488,1385,1386,1388,148327,468,64764,84699,90993,9586) => 5449 => (2688,2689)
Class
nt06324 GHRH-GH-IGF signaling
Type
Variant
Pathway
hsa04935  Growth hormone synthesis, secretion and action
Disease
H01483  Acromegaly
Gene
2778  GNAS; GNAS complex locus
107  ADCY1; adenylate cyclase 1
108  ADCY2; adenylate cyclase 2
109  ADCY3; adenylate cyclase 3
196883  ADCY4; adenylate cyclase 4
111  ADCY5; adenylate cyclase 5
112  ADCY6; adenylate cyclase 6
113  ADCY7; adenylate cyclase 7
114  ADCY8; adenylate cyclase 8
115  ADCY9; adenylate cyclase 9
5566  PRKACA; protein kinase cAMP-activated catalytic subunit alpha
5567  PRKACB; protein kinase cAMP-activated catalytic subunit beta
5568  PRKACG; protein kinase cAMP-activated catalytic subunit gamma
10488  CREB3; cAMP responsive element binding protein 3
1385  CREB1; cAMP responsive element binding protein 1
1386  ATF2; activating transcription factor 2
1388  ATF6B; activating transcription factor 6 beta
148327  CREB3L4; cAMP responsive element binding protein 3 like 4
468  ATF4; activating transcription factor 4
64764  CREB3L2; cAMP responsive element binding protein 3 like 2
84699  CREB3L3; cAMP responsive element binding protein 3 like 3
90993  CREB3L1; cAMP responsive element binding protein 3 like 1
9586  CREB5; cAMP responsive element binding protein 5
5449  POU1F1; POU class 1 homeobox 1
2688  GH1; growth hormone 1
2689  GH2; growth hormone 2
Variant
2778v1  GNAS activating mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Melmed S
  Title
Acromegaly pathogenesis and treatment.
  Journal
J Clin Invest 119:3189-202 (2009)
DOI:10.1172/JCI39375
Reference
  Authors
Levy A
  Title
Molecular and trophic mechanisms of pituitary tumourigenesis.
  Journal
Horm Res Paediatr 76 Suppl 1:2-6 (2011)
DOI:10.1159/000329114
Reference
PMID:2825031
  Authors
Vallar L, Spada A, Giannattasio G
  Title
Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas.
  Journal
Nature 330:566-8 (1987)
DOI:10.1038/330566a0

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