KEGG   NETWORK: N00010
Entry
N00010                      Network                                
Name
Mutation-inactivated PTCH1 to Hedgehog signaling pathway
Definition
PTCH1* // SMO -> (SUFU+KIF7) // GLI => (BMP2/4,HHIP,GLI1,PTCH,WNT)
  Expanded
5727v1 // 6608 -> (51684+374654) // (2735,2736,2737) => (650,652,64399,2735,5727,8643,7471,7472,7482,7473,89780,54361,7474,81029,7475,7476,7477,7478,7479,7483,7484,80326,7480,51384)
Class
nt06269 Basal cell carcinoma
nt06217 HH signaling (cancer)
Type
Variant
Pathway
hsa05217  Basal cell carcinoma
Disease
H00039  Basal cell carcinoma
Gene
5727  PTCH1; patched 1
6608  SMO; smoothened, frizzled class receptor
51684  SUFU; SUFU negative regulator of hedgehog signaling
374654  KIF7; kinesin family member 7
2735  GLI1; GLI family zinc finger 1
2736  GLI2; GLI family zinc finger 2
2737  GLI3; GLI family zinc finger 3
650  BMP2; bone morphogenetic protein 2
652  BMP4; bone morphogenetic protein 4
64399  HHIP; hedgehog interacting protein
8643  PTCH2; patched 2
7471  WNT1; Wnt family member 1
7472  WNT2; Wnt family member 2
7482  WNT2B; Wnt family member 2B
7473  WNT3; Wnt family member 3
89780  WNT3A; Wnt family member 3A
54361  WNT4; Wnt family member 4
7474  WNT5A; Wnt family member 5A
81029  WNT5B; Wnt family member 5B
7475  WNT6; Wnt family member 6
7476  WNT7A; Wnt family member 7A
7477  WNT7B; Wnt family member 7B
7478  WNT8A; Wnt family member 8A
7479  WNT8B; Wnt family member 8B
7483  WNT9A; Wnt family member 9A
7484  WNT9B; Wnt family member 9B
80326  WNT10A; Wnt family member 10A
7480  WNT10B; Wnt family member 10B
51384  WNT16; Wnt family member 16
Variant
5727v1 (PTCH1*)  PTCH1 mutation
Reference
PMID:14737121
  Authors
Pasca di Magliano M, Hebrok M.
  Title
Hedgehog signalling in cancer formation and maintenance.
  Journal
Nat Rev Cancer 3:903-11 (2003)
DOI:10.1038/nrc1229
Reference
PMID:12588368
  Authors
Saldanha G, Fletcher A, Slater DN.
  Title
Basal cell carcinoma: a dermatopathological and molecular biological update.
  Journal
Br J Dermatol 148:195-202 (2003)
DOI:10.1046/j.1365-2133.2003.05151.x
Reference
PMID:16881963
  Authors
Athar M, Tang X, Lee JL, Kopelovich L, Kim AL.
  Title
Hedgehog signalling in skin development and cancer.
  Journal
Exp Dermatol 15:667-77 (2006)
DOI:10.1111/j.1600-0625.2006.00473.x
Reference
PMID:15468170
  Authors
Tsai KY, Tsao H.
  Title
The genetics of skin cancer.
  Journal
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037
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