NETWORK: N00320
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
PMID:
24855271
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
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:
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:
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
LinkDB
DBGET
integrated database retrieval system
