KEGG   NETWORK: N00321Help
Entry
N00321                      Network                                

Name
Mutation-activated GNAS to ACTH-cortisol signaling pathway
Definition
GNAS* -> ADCY -> cAMP -> PKA -> (NR5A1,NR4A1,SP1,PBX1,CREB) => (STAR,CYP11B1) -> Cortisol
  Expanded
2778v1 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> (2516,3164,6667,5087,10488,1385,1386,1388,148327,468,64764,84699,90993,9586) => (6770,1584) -> C00735
Class
nt06310 CRH-ACTH-cortisol signaling
nt06360 Cushing syndrome
Type
Variant
Pathway
hsa04934  Cushing syndrome
Disease
H01431  Cushing syndrome
H02049  Bilateral macronodular adrenal hyperplasia
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
2516  NR5A1; nuclear receptor subfamily 5 group A member 1
3164  NR4A1; nuclear receptor subfamily 4 group A member 1
6667  SP1; Sp1 transcription factor
5087  PBX1; PBX homeobox 1
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
6770  STAR; steroidogenic acute regulatory protein
1584  CYP11B1; cytochrome P450 family 11 subfamily B member 1
Variant
2778v1  GNAS activating mutation
Metabolite
C00575  3',5'-Cyclic AMP
C00735  Cortisol
Reference
  Authors
Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S
  Title
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
  Journal
Science 344:917-20 (2014)
DOI:10.1126/science.1252328
Reference
  Authors
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
  Title
Cushing's syndrome.
  Journal
Lancet 386:913-27 (2015)
DOI:10.1016/S0140-6736(14)61375-1
Reference
  Authors
Duan K, Gomez Hernandez K, Mete O
  Title
Clinicopathological correlates of adrenal Cushing's syndrome.
  Journal
J Clin Pathol 68:175-86 (2015)
DOI:10.1136/jclinpath-2014-202612
LinkDB All DBs

DBGET integrated database retrieval system