Summary | |
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Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Cell membrane Multi-pass membrane protein Cell projection, cilium Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053). |
Domain |
PF00059 Lectin C-type domain PF13855 Leucine rich repeat PF00801 PKD domain PF08016 Polycystin cation channel PF01477 PLAT/LH2 domain PF02010 REJ domain PF01822 WSC domain |
Function |
Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. |
Biological Process |
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000082 G1/S transition of mitotic cell cycle GO:0001501 skeletal system development GO:0001502 cartilage condensation GO:0001655 urogenital system development GO:0001656 metanephros development GO:0001701 in utero embryonic development GO:0001763 morphogenesis of a branching structure GO:0001822 kidney development GO:0001823 mesonephros development GO:0001889 liver development GO:0001890 placenta development GO:0001892 embryonic placenta development GO:0001945 lymph vessel development GO:0003338 metanephros morphogenesis GO:0006606 protein import into nucleus GO:0006611 protein export from nucleus GO:0006816 calcium ion transport GO:0006874 cellular calcium ion homeostasis GO:0006875 cellular metal ion homeostasis GO:0006913 nucleocytoplasmic transport GO:0007050 cell cycle arrest GO:0007052 mitotic spindle organization GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007160 cell-matrix adhesion GO:0007161 calcium-independent cell-matrix adhesion GO:0007163 establishment or maintenance of cell polarity GO:0007204 positive regulation of cytosolic calcium ion concentration GO:0007259 JAK-STAT cascade GO:0007346 regulation of mitotic cell cycle GO:0007507 heart development GO:0007548 sex differentiation GO:0009581 detection of external stimulus GO:0009582 detection of abiotic stimulus GO:0009612 response to mechanical stimulus GO:0009894 regulation of catabolic process GO:0010498 proteasomal protein catabolic process GO:0017038 protein import GO:0018105 peptidyl-serine phosphorylation GO:0018209 peptidyl-serine modification GO:0021510 spinal cord development GO:0021915 neural tube development GO:0030010 establishment of cell polarity GO:0030323 respiratory tube development GO:0030324 lung development GO:0031329 regulation of cellular catabolic process GO:0031589 cell-substrate adhesion GO:0031657 regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0032092 positive regulation of protein binding GO:0032386 regulation of intracellular transport GO:0032387 negative regulation of intracellular transport GO:0032507 maintenance of protein location in cell GO:0033157 regulation of intracellular protein transport GO:0033674 positive regulation of kinase activity GO:0034405 response to fluid shear stress GO:0034504 protein localization to nucleus GO:0035239 tube morphogenesis GO:0036303 lymph vessel morphogenesis GO:0042176 regulation of protein catabolic process GO:0042306 regulation of protein import into nucleus GO:0042308 negative regulation of protein import into nucleus GO:0042990 regulation of transcription factor import into nucleus GO:0042991 transcription factor import into nucleus GO:0042992 negative regulation of transcription factor import into nucleus GO:0042994 cytoplasmic sequestering of transcription factor GO:0043393 regulation of protein binding GO:0043588 skin development GO:0044744 protein targeting to nucleus GO:0044770 cell cycle phase transition GO:0044772 mitotic cell cycle phase transition GO:0044843 cell cycle G1/S phase transition GO:0045185 maintenance of protein location GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045786 negative regulation of cell cycle GO:0045787 positive regulation of cell cycle GO:0045860 positive regulation of protein kinase activity GO:0046822 regulation of nucleocytoplasmic transport GO:0046823 negative regulation of nucleocytoplasmic transport GO:0048565 digestive tract development GO:0048568 embryonic organ development GO:0048608 reproductive structure development GO:0048705 skeletal system morphogenesis GO:0048732 gland development GO:0048754 branching morphogenesis of an epithelial tube GO:0048806 genitalia development GO:0050982 detection of mechanical stimulus GO:0051051 negative regulation of transport GO:0051098 regulation of binding GO:0051099 positive regulation of binding GO:0051168 nuclear export GO:0051169 nuclear transport GO:0051170 nuclear import GO:0051216 cartilage development GO:0051220 cytoplasmic sequestering of protein GO:0051224 negative regulation of protein transport GO:0051235 maintenance of location GO:0051480 regulation of cytosolic calcium ion concentration GO:0051651 maintenance of location in cell GO:0055074 calcium ion homeostasis GO:0055123 digestive system development GO:0060236 regulation of mitotic spindle organization GO:0060428 lung epithelium development GO:0060541 respiratory system development GO:0060562 epithelial tube morphogenesis GO:0060674 placenta blood vessel development GO:0060993 kidney morphogenesis GO:0061008 hepaticobiliary system development GO:0061136 regulation of proteasomal protein catabolic process GO:0061138 morphogenesis of a branching epithelium GO:0061326 renal tubule development GO:0061333 renal tubule morphogenesis GO:0061448 connective tissue development GO:0061458 reproductive system development GO:0070588 calcium ion transmembrane transport GO:0070838 divalent metal ion transport GO:0071900 regulation of protein serine/threonine kinase activity GO:0071902 positive regulation of protein serine/threonine kinase activity GO:0072001 renal system development GO:0072006 nephron development GO:0072009 nephron epithelium development GO:0072014 proximal tubule development GO:0072017 distal tubule development GO:0072021 ascending thin limb development GO:0072028 nephron morphogenesis GO:0072044 collecting duct development GO:0072070 loop of Henle development GO:0072073 kidney epithelium development GO:0072078 nephron tubule morphogenesis GO:0072080 nephron tubule development GO:0072088 nephron epithelium morphogenesis GO:0072156 distal tubule morphogenesis GO:0072163 mesonephric epithelium development GO:0072164 mesonephric tubule development GO:0072170 metanephric tubule development GO:0072173 metanephric tubule morphogenesis GO:0072176 nephric duct development GO:0072177 mesonephric duct development GO:0072205 metanephric collecting duct development GO:0072207 metanephric epithelium development GO:0072210 metanephric nephron development GO:0072218 metanephric ascending thin limb development GO:0072234 metanephric nephron tubule development GO:0072235 metanephric distal tubule development GO:0072236 metanephric loop of Henle development GO:0072237 metanephric proximal tubule development GO:0072243 metanephric nephron epithelium development GO:0072273 metanephric nephron morphogenesis GO:0072282 metanephric nephron tubule morphogenesis GO:0072287 metanephric distal tubule morphogenesis GO:0072503 cellular divalent inorganic cation homeostasis GO:0072507 divalent inorganic cation homeostasis GO:0072511 divalent inorganic cation transport GO:0090317 negative regulation of intracellular protein transport GO:0097696 STAT cascade GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098743 cell aggregation GO:1900180 regulation of protein localization to nucleus GO:1900181 negative regulation of protein localization to nucleus GO:1901987 regulation of cell cycle phase transition GO:1901990 regulation of mitotic cell cycle phase transition GO:1902593 single-organism nuclear import GO:1902806 regulation of cell cycle G1/S phase transition GO:1903050 regulation of proteolysis involved in cellular protein catabolic process GO:1903362 regulation of cellular protein catabolic process GO:1903533 regulation of protein targeting GO:1903828 negative regulation of cellular protein localization GO:1904029 regulation of cyclin-dependent protein kinase activity GO:1904031 positive regulation of cyclin-dependent protein kinase activity GO:1904589 regulation of protein import GO:1904590 negative regulation of protein import GO:1904950 negative regulation of establishment of protein localization GO:2000045 regulation of G1/S transition of mitotic cell cycle |
Molecular Function |
GO:0005216 ion channel activity GO:0005261 cation channel activity GO:0005262 calcium channel activity GO:0015085 calcium ion transmembrane transporter activity GO:0015267 channel activity GO:0022803 passive transmembrane transporter activity GO:0022838 substrate-specific channel activity GO:0030246 carbohydrate binding GO:0044325 ion channel binding GO:0046873 metal ion transmembrane transporter activity GO:0072509 divalent inorganic cation transmembrane transporter activity |
Cellular Component |
GO:0002133 polycystin complex GO:0005798 Golgi-associated vesicle GO:0005929 cilium GO:0016323 basolateral plasma membrane GO:0016328 lateral plasma membrane GO:0030660 Golgi-associated vesicle membrane GO:0031253 cell projection membrane GO:0031512 motile primary cilium GO:0044441 ciliary part GO:0060170 ciliary membrane GO:0072372 primary cilium |
KEGG | - |
Reactome |
R-HSA-5620920: Cargo trafficking to the periciliary membrane R-HSA-5617833: Cilium Assembly R-HSA-1852241: Organelle biogenesis and maintenance R-HSA-5620916: VxPx cargo-targeting to cilium |
Summary | |
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Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between PKD1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of PKD1 in screening data sets for detecting immune reponses.
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Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of PKD1 in various data sets.
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Points in the above scatter plot represent the mutation difference of PKD1 in various data sets.
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Summary | |
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Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of PKD1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of PKD1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by PKD1. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of PKD1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of PKD1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between PKD1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | PKD1 |
Name | polycystic kidney disease 1 (autosomal dominant) |
Aliases | TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ...... |
Chromosomal Location | 16p13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting PKD1 collected from DrugBank database. |
There is no record. |