Harmonizome 3.0

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term pkd1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From KEA Substrates of Kinases

substrates of the kinase PKD1 from the curated KEA Substrates of Kinases dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for PKD1 from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the PKD1 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the PKD1 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From CORUM Protein Complexes

proteins in the Polycystin-1 multiprotein complex (ACTN1, CDH1, SRC, JUP, VCL, CTNNB1, PXN, BCAR1, PKD1, PTK2, TLN1) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the ITGB1-RAP1A-PKD1 complex protein complex from the CORUM Protein Complexes dataset.

From GAD Gene-Disease Associations

genes associated with the disease early onset of esrf in pkd1 adult polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polycystin cation channel, PKD1/PKD2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.