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Gene Information

Gene symbol: PKD1

Gene name: polycystic kidney disease 1 (autosomal dominant)

HGNC ID: 9008

Synonyms: PBP, Pc-1, TRPP1

Related Genes

# Gene Symbol Number of hits
1 KIRREL 1 hits
2 PKD2 1 hits
3 PRKD1 1 hits

Related Sentences

# PMID Sentence
1 12660326 Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1.
2 12660326 Nephrin and NEPH1, the gene products of NPHS1 and NEPH1, are podocyte membrane proteins of the Ig superfamily.
3 12660326 Similar to the nephrin knockout, mice lacking NEPH1 show severe proteinuria leading to perinatal death.
4 12660326 This NEPH1-Ig fusion protein labeled the glomerular capillary wall of mouse kidneys in a staining pattern identical to NEPH1 and nephrin, prompting speculation that that NEPH1 might form homodimers and/or heterodimers with nephrin.
5 12660326 Fusion proteins containing two Ig domains of NEPH1 were sufficient to immobilize NEPH1, but they failed to interact with control protein containing the phylogenetically related PKD repeats of polycystin-1.
6 12660326 NEPH1 also precipitated nephrin, a protein with eight Ig domains and a fibronectin-like domain.
7 12660326 Truncational analysis of nephrin revealed a very similar mode of interaction, i.e., two nephrin Ig domains fused to human IgG precipitated either nephrin or NEPH1, but not the control protein.
8 12660326 Both NEPH1 and nephrin interactions were strictly dependent upon posttranslational glycosylation, and bacterially expressed protein failed to bind NEPH1.
9 12660326 These findings demonstrate that the Ig domains of NEPH1 and nephrin form promiscuous homodimeric and heterodimeric interactions that may facilitate cis- and trans- homodimerizations and heterodimerizations of these molecules at the glomerular slit diaphragm.
10 21085109 Polycystin 1 regulates mTOR activity through different pathways, and TSC intersects with the primary cilium, a crucial cell organelle in the pathogenesis of PKD.
11 23376035 Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2), cause autosomal dominant polycystic kidney disease (ADPKD).
12 26493500 Knockout of the polycystic kidney disease genes PKD1 or PKD2 induces cyst formation from kidney tubules.