ADCYAP1R1, ADCYAP receptor type I, 117

N. diseases: 118; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.030 AlteredExpression disease BEFREE Calmodulin interacts with PAC1 and VPAC2 receptors and regulates PACAP-induced FOS expression in human neuroblastoma cells. 19269029 2009
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.030 Biomarker disease BEFREE These results provide evidence that the neurotrophic effects of PACAP-38 on human SH-SY5Y neuroblastoma cells are mediated by the PAC(1) receptor through a cAMP-dependent but PKA-independent mechanism, and furthermore suggest that this involves Epac-dependent activation of ERK as well as activation of the p38 MAP kinase signaling pathway. 17995938 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.030 GeneticVariation disease BEFREE PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain. 16226889 2006