Browse PKD1

Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
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.

> Gene Ontology
 
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 and Reactome Pathway
 
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
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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.
> Text Mining
 

There is no record.
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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
  Statistical results of PKD1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NS NA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen Total # shRNA with >= 4-fold: 1 Resistant to T-cell proliferation
24476824shRNAmelanomaB16Secondary screen Total # shRNA with >= 4-fold: 6 Resistant to T-cell proliferation
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of PKD1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.2720.182
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.720.655
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)870.0570.96
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.0670.874
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.0340.992
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.1970.961
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.2320.554
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.1010.948
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.3570.839
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.2130.883
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.7780.683
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.260.00118
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of PKD1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14177.123.5-16.40.344
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1031066.7-56.70.108
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 414014.3-14.31
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.74.1-0.41
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 01407.1-7.11
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.73.40.31
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211723.811.8120.427
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)86250250.473
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131123.118.24.91
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91644.412.531.90.142
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 594022.217.80.58
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47500500.109
1329033130MelanomaallAnti-PD-1 (nivolumab) 38275.37.4-2.11
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.109.10.519
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1614014.3-14.30.209
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11139.17.71.41
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 6116.7016.71
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 51208.3-8.31
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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.
> Lymphocyte
 
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
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
> Chemokine
 
> Receptor
 
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of PKD1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between PKD1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolPKD1
Namepolycystic kidney disease 1 (autosomal dominant)
Aliases TRPP1; polycystin 1; transient receptor potential cation channel, subfamily P, member 1; autosomal dominant ......
Chromosomal Location16p13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting PKD1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.