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 |
|---|---|---|---|---|---|
| polycystin 1, transient receptor potential channel interacting | MIM:601313 | Ensembl:ENSG00000008710 | HGNC:HGNC:9008 | PA35521 | 16p13.3 |
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 |
| BP | IEA | GO:0001502 | cartilage condensation |
| BP | ISS | GO:0001701 | in utero embryonic development |
| BP | ISS | GO:0001822 | kidney development |
| BP | IEA | GO:0001889 | liver development |
| BP | ISS | GO:0001892 | embryonic placenta development |
| BP | ISS | GO:0006611 | protein export from nucleus |
| BP | ISS | GO:0007050 | cell cycle arrest |
| BP | TAS | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules |
| BP | TAS | GO:0007160 | cell-matrix adhesion |
| BP | TAS | GO:0007161 | calcium-independent cell-matrix adhesion |
| BP | IEA | GO:0007204 | positive regulation of cytosolic calcium ion concentration |
| BP | ISS | GO:0007259 | JAK-STAT cascade |
| BP | IEP | GO:0007507 | heart development |
| BP | TAS | GO:0009653 | anatomical structure morphogenesis |
| BP | ISS | GO:0018105 | peptidyl-serine phosphorylation |
| BP | IEP | GO:0021510 | spinal cord development |
| BP | IEP | GO:0021915 | neural tube development |
| BP | IEA | GO:0030010 | establishment of cell polarity |
| BP | IEA | GO:0030155 | regulation of cell adhesion |
| BP | IDA | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle |
| BP | ISS | GO:0032092 | positive regulation of protein binding |
| BP | IEA | GO:0034405 | response to fluid shear stress |
| BP | IEA | GO:0036303 | lymph vessel morphogenesis |
| BP | ISS | GO:0042994 | cytoplasmic sequestering of transcription factor |
| BP | IEP | GO:0043588 | skin development |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEP | GO:0048565 | digestive tract development |
| BP | IDA | GO:0048754 | branching morphogenesis of an epithelial tube |
| BP | IEP | GO:0048806 | genitalia development |
| BP | ISS | GO:0050982 | detection of mechanical stimulus |
| BP | IEP | GO:0051216 | cartilage development |
| BP | IEA | GO:0060236 | regulation of mitotic spindle organization |
| BP | IEP | GO:0060428 | lung epithelium development |
| BP | ISS | GO:0060674 | placenta blood vessel development |
| BP | IDA | GO:0061136 | regulation of proteasomal protein catabolic process |
| BP | ISS | GO:0070588 | calcium ion transmembrane transport |
| BP | IEP | GO:0072164 | mesonephric tubule development |
| BP | IEP | GO:0072177 | mesonephric duct development |
| BP | IEP | GO:0072205 | metanephric collecting duct development |
| BP | IEP | GO:0072218 | metanephric ascending thin limb development |
| BP | IEP | GO:0072237 | metanephric proximal tubule development |
| BP | IEP | GO:0072287 | metanephric distal tubule morphogenesis |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | ISS | GO:0002133 | polycystin complex |
| CC | ISS | GO:0005634 | nucleus |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | ISS | GO:0005929 | cilium |
| CC | IEA | GO:0009986 | cell surface |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IEA | GO:0016328 | lateral plasma membrane |
| CC | TAS | GO:0030660 | Golgi-associated vesicle membrane |
| CC | ISS | GO:0031514 | motile cilium |
| CC | TAS | GO:0060170 | ciliary membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0070062 | extracellular exosome |
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 |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620916 | VxPx cargo-targeting to cilium |
| reactome | R-HSA-5620916 | VxPx cargo-targeting to cilium |
| reactome | R-HSA-5620920 | Cargo trafficking to the periciliary membrane |
| reactome | R-HSA-5620920 | Cargo trafficking to the periciliary membrane |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PKD1
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