Recombinant Human Polycystin-1 (PKD1), partial

1. Two novel mutations, c.6953_6977del and c.10937T>G (p.Val3646Gly) of the PKD1 gene are associated with the polycystic kidney disease. PMID: 29896735
2. this study reports the 3.6-angstrom cryo-electron microscopy structure of truncated human PKD1-PKD2 complex assembled in a 1:3 ratio. PMID: 30093605
3. VEGF/PKD-1 signaling axis increases angiogenic and arteriogenic gene expression. These studies suggest that the axis may regulate arteriolar differentiation through changing microvascular endothelial cells gene expression. PMID: 29380239
4. The novel frameshift mutations reported by this study are p. Q1997X, P. D73X and p. V336X. PMID: 29590654
5. newly identified sites for known mutations will facilitate the early diagnosis and prediction of prognosis in patients with ADPKD PMID: 29529603
6. PKD1 cytoplasmic C-terminal tail domain has a crucial role in renal prognosis in autosomal dominant polycystic disease. PMID: 28983800
7. PKD 1 mutation is associated with Autosomal dominant polycystic kidney disease. PMID: 28825164
8. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology. PMID: 29034881
9. These data reveal a novel function for PKD1 as a regulator of focal adhesion dynamics and by identifying PIP5Klgamma as a novel PKD1 substrate provide mechanistic insight into this process. PMID: 27775029
10. the PKD1/PKD2 mutation status differed by ethnicity, and the PKD1/PKD2 genotype may affect the clinical phenotype of autosomal dominant polycystic kidney disease PMID: 27782177
11. The novel pathogenic variants c.3607C> T and c.11354G> C in PKD1 is very interesting since they may represent Italian clusters. PMID: 27499327
12. SNX3-retromer complex regulates the surface expression and function of PC1 and PC2 PMID: 28620080
13. Study identified a novel heterozygous frameshift mutation in PKD1 gene segregating between affected and unaffected individuals suggesting an involvement in polycystic kidney disease (PKD). PMID: 28870863
14. we report for the first time that PKD1 was tightly regulated by androgen at the transcriptional level in prostate cancer cells and was a novel androgen-repressed gene. Further analysis identified FRS2 as a novel mediator of androgen-induced PKD1 repression. PMID: 28077787
15. novel frameshift mutation c.3903delC, p.A1302Pfs identified to be responsible for renal disease PMID: 28827396
16. Hyperactivation of the ERK pathway may be caused by down-regulation of PC-1 and PC-2 in lymphatic malformations, contributing to increased proliferation of lymphatic endothelial cells. PMID: 28552828
17. A novel mutation of the PKD1 gene has been identified with autosomal dominant polycystic kidney disease in an affected Chinese family. PMID: 28604956
18. Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. PMID: 26932689
19. this study shows that diet-induced obesity links to estrogen receptor-positive breast cancer progression via LPA/PKD-1-CD36 signaling-mediated microvascular remodeling PMID: 28186980
20. Isolated polycystic liver disease genes define effectors of polycystin-1 function PMID: 28375157
21. mechanical load upregulates expression of Runx2 gene via potentiation of PC1-JAK2/STAT3 signaling axis, culminating to possibly control osteoblastic differentiation and ultimately bone formation. PMID: 27699453
22. Gly972Arg of PC-1 polymorphisms are associated with polycystic ovary syndrome. PMID: 27785750
23. cortactin binds to E-cadherin, and that a posttranslational modification of cortactin, RhoA-induced phosphorylation by protein kinase D1 (PKD1; also known as PRKD1) at S298, impairs adherens junction assembly and supports their dissolution. PMID: 27179075
24. Ten novel mutations in PKD1 gene were identified in 15 Chinese families with polycystic kidney disease. PMID: 28578020
25. The novel PKD1 c.8791+1_8791+5delGTGCG mutation has created a new splice site. PMID: 27984604
26. Data show that in 82 (87.2%) of the patients, pathogenic mutations were detected in PKD1 (79.0%-92.5%), whereas in 12 (12.8%) patients pathogenic mutations were detected in PKD2 (7.5%-21.0%). PMID: 27835667
27. our study reveals possible mechanisms of CFB upregulation in autosomal dominant polycystic kidney disease, and a novel role of PC1-C terminal tail in ADPKD-associated inflammation. PMID: 26984954
28. PKD1 mutation is associated with familial testicular germ cell tumor and autosomal dominant polycystic kidney disease. PMID: 27577987
29. we have quantified the contribution of genic and PKD1 allelic effects and sex to the Autosomal dominant polycystic kidney disease phenotype. Intrafamilial correlation analysis showed that other factors shared by families influence height-adjusted total kidney volume, with these additional genetic/environmental factors significantly affecting the Autosomal dominant polycystic kidney disease phenotype PMID: 26823553
30. The epithelial cell membrane protein E-cadherin physically binds to PKD1 which leads to a subcellular redistribution of PKD1. PMID: 26991955
31. PKD1 and PKD2 are susceptibility genes for familial intracranial aneurysms in a Japanese population. PMID: 27567292
32. These results suggest that the Ser at the 4166 site in PC1 is crucial in the PC1 mediated MEK/ERK/myc signaling pathway, which might be the key pathophysiological cause of Aortic dissection. PMID: 28076932
33. Novel PKD1 mutations in Chinese autosomal dominant polycystic kidney disease patients PMID: 26632257
34. The pathogenic mutation in PKD1 linked pedigree was c.8522G>A (p.E2771K) in exon 23. This C to T transition occurs at the CpG dinucleotides which is the known hotspot point for mutations. PMID: 26950445
35. Germline mutations in PKD1 gene is associated with autosomal-dominant polycystic kidney disease. PMID: 23300259
36. Host cortactin, PKD1 and actin are recruited by Trypanosoma cruzi extracellular amastigotes based on experiments in fixed and live cells by time lapse confocal microscopy. PMID: 26096820
37. PCs expression and p53 activation as a regulator of cell proliferation were further evaluated in vivo and in 69 advanced human carotid atherosclerotic plaques. PMID: 26286632
38. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function. PMID: 26139440
39. Overexpression of PKD1 in a prostate cancer cell line model resulted in decreased cell proliferation and epithelial mesenchymal transition. PMID: 26764245
40. and MMP9 expression in PKD1 constitutively-active MD-MB-231 cells and MCF-7 knockdown cells were decreased and increased respectively PMID: 26775353
41. A substantial number of PKD1 missense or synonymous mutations characterize pre-mRNA splicing. One missense and 2 synonymous mutations induce significant defects in pre-mRNA splicing. PMID: 25757501
42. PKD1 gene variation plays a disease modifying role in patients diagnosed with ADPKD. PMID: 25880449
43. A short segment of chromosome 16 encodes the tumor suppressor gene tuberin as well as the protein polycystin 1 which are responsible for tuberous sclerosis complex type 2 and autosomal-dominant polycystic kidney disease type 1, respectively. PMID: 25355409
44. Case Report: polycystic kidney disease with steatocystoma multiplex. PKD1 mutations disrupt keratin 17 polymerization. PMID: 25111597
45. mutations within PKD1 and PKD2 can be linked to most of the cases of Japanese ADPKD, and the renal function decline was faster in patients with PKD1 mutations than in those with PKD2 mutations PMID: 24611717
46. PKD1 knockdown was found to be an efficient strategy to overcome resistance caused by LMP1 expression. Therefore, PKD1 could be a molecular target for therapeutic intervention in EBV-associated B cell lymphoma treatment. PMID: 24707946
47. Report novel nonsense mutation in exon 15 of PKD1 in polycystic liver disease. PMID: 25741140
48. Four novel PKD1 variants were identified in this study in autosomal-dominant polycystic kidney disease using long-range PCR followed by nested PCR PMID: 25531466
49. Data indicate that serine/threonine-protein kinase D1 (PKD1) stimulates estrogen receptor alpha (ERalpha) expression in breast cancer MCF-7 cells. PMID: 25287328
50. Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle. PMID: 25367197

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HGNC: 9008

OMIM: 173900

KEGG: hsa:5310

STRING: 9606.ENSP00000262304

UniGene: Hs.75813