PKD1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601313 Ensembl IDEnsembl:ENSG00000008710 HGNC IDHGNC:HGNC:9008 PHARMGKB IDPA35521 Map Location16p13.3 | |||||
GO terms in PKD1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISS | GO:0005262 | calcium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IEA | GO:0030246 | carbohydrate binding |
| MF | IPI | GO:0044325 | ion channel binding |
Gene expression in normal tissue: PKD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PKD1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2571 | Polycystic Kidney Disease Pathway |
| wikipathways | WP3670 | Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway |
| wikipathways | WP3958 | GPR40 Pathway |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PKD1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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