RGD Reference Report - Hedgehog signaling update. - Rat Genome Database

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Hedgehog signaling update.

Authors: Cohen, M Michael 
Citation: Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
RGD ID: 5510026
Pubmed: PMID:20635334   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.32909   (Journal Full-text)

In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and become transported via glypicans and megalin to the responding cells. Hedgehog then interacts with a complex of Patched 1 and Cdo/Boc, which activates endocytic Smoothened to the cilium. Patched 1 regulates the activity of Smoothened (1) via Vitamin D3, which inhibits Smoothened in the absence of hedgehog ligand or (2) via oxysterols, which activate Smoothened in the presence of hedgehog ligand. Hedgehog ligands also interact with Hip1, Patched 2, and Gas1, which regulate the range as well as the level of hedgehog signaling. In vertebrates, Smoothened is shortened at its C-terminal end and lacks most of the phosphorylation sites of importance in Drosophila. Cos2, also of importance in Drosophila, plays no role in mammalian transduction, nor do its homologs Kif7 and Kif27. The cilium may provide a function analogous to that of Cos2 by linking Smoothened to the modulation of Gli transcription factors. Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, Smith-Lemli-Opitz syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Carpenter syndrome, and Rubinstein-Taybi syndrome.



RGD Manual Annotations

1 to 20 of 29 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
BTRCHumanHedgehog signaling pathway   TAS  RGD 
BtrcRatHedgehog signaling pathway   ISOBTRC (Homo sapiens) RGD 
BtrcMouseHedgehog signaling pathway   ISOBTRC (Homo sapiens) RGD 
DISP1HumanHedgehog signaling pathway   TAS  RGD 
Disp1RatHedgehog signaling pathway   ISODISP1 (Homo sapiens) RGD 
Disp1MouseHedgehog signaling pathway   ISODISP1 (Homo sapiens) RGD 
GLI1HumanHedgehog signaling pathway   TAS  RGD 
GLI2HumanHedgehog signaling pathway   TAS  RGD 
GLI3HumanHedgehog signaling pathway   TAS  RGD 
GSK3BHumanHedgehog signaling pathway   TAS  RGD 
Gli1RatHedgehog signaling pathway   ISOGLI1 (Homo sapiens) RGD 
Gli1MouseHedgehog signaling pathway   ISOGLI1 (Homo sapiens) RGD 
Gli2RatHedgehog signaling pathway   ISOGLI2 (Homo sapiens) RGD 
Gli2MouseHedgehog signaling pathway   ISOGLI2 (Homo sapiens) RGD 
Gli3RatHedgehog signaling pathway   ISOGLI3 (Homo sapiens) RGD 
Gli3MouseHedgehog signaling pathway   ISOGLI3 (Homo sapiens) RGD 
Gsk3bRatHedgehog signaling pathway   ISOGSK3B (Homo sapiens) RGD 
Gsk3bMouseHedgehog signaling pathway   ISOGSK3B (Homo sapiens) RGD 
LRP2HumanHedgehog signaling pathway   TAS  RGD 
Lrp2RatHedgehog signaling pathway   ISOLRP2 (Homo sapiens) RGD 
1 to 20 of 29 rows

Genes (Rattus norvegicus)
Btrc  (beta-transducin repeat containing E3 ubiquitin protein ligase) Disp1  (dispatched RND transporter family member 1) Gli1  (GLI family zinc finger 1)
Gli2  (GLI family zinc finger 2) Gli3  (GLI family zinc finger 3) Gsk3b  (glycogen synthase kinase 3 beta)
Lrp2  (LDL receptor related protein 2) Ptch1  (patched 1) Smo  (smoothened, frizzled class receptor)

Genes (Mus musculus)
Btrc  (beta-transducin repeat containing protein) Disp1  (dispatched RND transporter family member 1) Gli1  (GLI-Kruppel family member GLI1)
Gli2  (GLI-Kruppel family member GLI2) Gli3  (GLI-Kruppel family member GLI3) Gsk3b  (glycogen synthase kinase 3 beta)
Lrp2  (low density lipoprotein receptor-related protein 2) Ptch1  (patched 1) Ptch2  (patched 2)
Smo  (smoothened, frizzled class receptor)

Genes (Homo sapiens)
BTRC  (beta-transducin repeat containing E3 ubiquitin protein ligase) DISP1  (dispatched RND transporter family member 1) GLI1  (GLI family zinc finger 1)
GLI2  (GLI family zinc finger 2) GLI3  (GLI family zinc finger 3) GSK3B  (glycogen synthase kinase 3 beta)
LRP2  (LDL receptor related protein 2) PTCH1  (patched 1) PTCH2  (patched 2)
SMO  (smoothened, frizzled class receptor)