PSMG1, proteasome assembly chaperone 1, 8624

N. diseases: 97; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700095
Disease: Central neuroblastoma
Central 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
CUI: C0700095
Disease: Central neuroblastoma
Central 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: C0700095
Disease: Central neuroblastoma
Central 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: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 Biomarker disease BEFREE Using flow cytometry, the power-transformed mean percentage of PAC-1-positive platelets, [PAC-1](1/3), was significantly higher in healthy subjects with the C/C genotype than in healthy subjects with the A/A genotype (p ≤ 0.05), although there was no significant difference in patients with CI between these two genotypes. 23628440 2013
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 Biomarker disease BEFREE In addition, PAC-1 was probably known to be associated with Burkitt Lymphoma (Odds Ratio [OR] 6.67, Relative Risk [RR] 3.13, 95% CI 1.06-9.21; p = 0.02). 31326577 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 AlteredExpression disease BEFREE Real-time polymerase chain reaction (PCR) was used to examine the effects of haloperidol, olanzapine and amisulpride on the expression of genes coding PAC1/VPAC type receptors in the T98G glioblastoma cell line, as an example of an in vitro model of glial cells. 27900577 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 Biomarker disease BEFREE Synergistic activity of PAC-1/TMZ in rodent models and the demonstration of feasibility of the combined regime in canine patients suggest potential for PAC-1 in the treatment of glioblastoma. 29113289 2017
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
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 Biomarker disease BEFREE B-PAC-1 in combination with an inhibitor of apoptosis protein antagonist (Smac066) synergistically induced apoptosis in CLL samples. 25538042 2015
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.010 Biomarker disease BEFREE Surprisingly, we found a very low PAC-1 binding capacity in MPN patients; however, the expression of PAC-1 was almost completely recovered with aspirin intake. 31792942 2019
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.020 Biomarker phenotype BEFREE In particular, the development of biased antagonists to PAC1 receptor-mediated endosomal signaling may offer therapeutic options for chronic pain and stress-related disorders.. 27661062 2017
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.020 Biomarker phenotype BEFREE Previously, we found that intrathecal injection of PACAP or maxadilan, a selective PACAP type I (PAC1) receptor agonist, induced transient aversive responses followed by a long-lasting mechanical allodynia in mice, suggesting that PACAP-PAC1 receptor systems are involved in chronic pain and that selective PAC1 antagonists may become a new class of analgesics. 29363578 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.010 Biomarker group BEFREE Taken together, these results suggest that PACAP, acting through stimulation of PAC1 receptor, may have a therapeutic potential to counteract cognitive deficits induced in HD. 29526016 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE In the current study, we contrast the effects of pituitary adenylate cyclase-activating polypeptide (PACAP) on the HCT8 colon cancer cell lines to the HCT116 and FET cell lines wherein PAC1 is expressed as the SV1 or HIP splice variant and is coupled to the activation only of cAMP but not of intracellular Ca2+. 14742913 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 AlteredExpression group BEFREE These data indicate that human colon tumor cells express PAC1 and are differentially coupled to intracellular signal transduction molecules. 14742913 2004
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
0.010 GeneticVariation disease BEFREE Two important players are the subcommissural organ/Reissner's fiber (SCO/RF) complex and the ventricular ependymal (vel) cells that together facilitate the flow of the CSF through the narrow canals of the ventricular system.In this issue of the JCI, Lang et al. demonstrate that overexpression of the pituitary adenylate cyclase-activating polypeptide (PACAP) type I (PAC1) receptor gene results in abnormal development of the SCO and vel cells, leading to congenital hydrocephalus (see the related article beginning on page 1924). 16823482 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 Biomarker disease BEFREE PAC1 KO demonstrate similar attributes to PACAP-null mice, but with the addition of increased pulmonary artery pressure, consequently leading to heart failure and death. 28392470 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 GeneticVariation disease BEFREE Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 AlteredExpression disease BEFREE Levels of proteasome subunit β type 3 (PSMB3), PSMB5, PSMB6, and proteasome assembly chaperone 1 were not decreased in OA chondrocytes. 29457374 2018
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
0.010 Biomarker disease BEFREE In contrast to our previous EAE studies using PACAP global knockout mice which developed severe and prolonged EAE, we found that mice with conditional loss of PAC1 receptors in catecholaminergic cells developed a delayed time course of EAE with reduced helper T cell type 1 (Th1) and Th17 and enhanced Th2 cell polarization. 30058008 2019
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder
0.010 Biomarker disease BEFREE Genotypes for PACAP/PAC1 were examined for effects on treatment response to venlafaxine XR in generalized anxiety disorder. 23972788 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 AlteredExpression disease BEFREE Real-time polymerase chain reaction (PCR) was used to examine the effects of haloperidol, olanzapine and amisulpride on the expression of genes coding PAC1/VPAC type receptors in the T98G glioblastoma cell line, as an example of an in vitro model of glial cells. 27900577 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 Biomarker disease BEFREE Synergistic activity of PAC-1/TMZ in rodent models and the demonstration of feasibility of the combined regime in canine patients suggest potential for PAC-1 in the treatment of glioblastoma. 29113289 2017