KEGG   NETWORK: N00323
Entry
N00323                      Network                                
Name
Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Definition
(PDE11A*,PDE8B*) // cAMP -> (PRKAR1A+PRKACA) -> (NR5A1,NR4A1,SP1,PBX1,CREB) => (STAR,CYP11B1) -> Cortisol
  Expanded
(50940v1,8622v1) // C00575 -> (5573+5566) -> (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
H00260  Pigmented micronodular adrenocortical disease
H02049  Bilateral macronodular adrenal hyperplasia
Gene
50940  PDE11A; phosphodiesterase 11A
8622  PDE8B; phosphodiesterase 8B
5573  PRKAR1A; protein kinase cAMP-dependent type I regulatory subunit alpha
5566  PRKACA; protein kinase cAMP-activated catalytic subunit alpha
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
50940v1 (PDE11A*)  PDE11A
8622v1 (PDE8B*)  PDE8B mutation
Metabolite
C00575  3',5'-Cyclic AMP
C00735  Cortisol
Reference
PMID:29233839
  Authors
Bonnet-Serrano F, Bertherat J
  Title
Genetics of tumors of the adrenal cortex.
  Journal
Endocr Relat Cancer 25:R131-R152 (2018)
DOI:10.1530/ERC-17-0361
Reference
PMID:26965378
  Authors
Lodish M, Stratakis CA
  Title
A genetic and molecular update on adrenocortical causes of Cushing syndrome.
  Journal
Nat Rev Endocrinol 12:255-62 (2016)
DOI:10.1038/nrendo.2016.24
Reference
PMID:26004339
  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
PMID:25425660
  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
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