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Entry
N00320                      Network                                

Name
Mutation-activated PRKACA to ACTH-cortisol signaling pathway
Definition
PRKACA* -> (NR5A1,NR4A1,SP1,PBX1,CREB) => (STAR,CYP11B1) -> Cortisol
  Expanded
5566v1 -> (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
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
5566v1  PRKACA mutation
Metabolite
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
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
  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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