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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
polycystin 1, transient receptor potential channel interacting
Summary
- Gene Symbol
-
- PKD1
- Aliases
-
- PBP
- Pc-1
- TRPP1
- polycystin 1
- transient receptor potential cation channel, subfamily P, member 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Autocatalytic cleavage
- Cell membrane
- Ciliopathy
- Cilium
- Coiled coil
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Golgi apparatus
- Lectin
- Leucine-rich repeat
- Phosphoprotein
- Reference proteome
- Repeat
- Secreted
- Signal
- Transmembrane helix
- Wnt signaling pathway
- Proteins
| UniProt | Protein Name |
|---|---|
| P98161 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein export from nucleus | ||
| establishment of epithelial cell polarity | ||
| kidney development | ||
| skin development | ||
| liver development |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
developmental process [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic process [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium channel complex | ||
| nucleus | ||
| motile cilium | ||
| endoplasmic reticulum | ||
| cytoplasm |
| GO Term | Evidence Code | PMID |
|---|---|---|
| monoatomic cation channel activity | ||
| calcium channel activity | ||
| transcription regulator inhibitor activity | ||
| Wnt receptor activity | ||
| protein kinase binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110859 | polycystic kidney disease 2 | |
| DOID:0110860 | polycystic kidney disease 3 | |
| DOID:0110861 | autosomal recessive polycystic kidney disease | |
| DOID:0111253 | neurofibromatosis 1 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10241 | thalassemia | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma | |
| DOID:10534 | stomach cancer | |
| DOID:10652 | Alzheimer's disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000083 | Renal insufficiency |
| HP:0000105 | Enlarged kidney |
| HP:0000107 | Renal cyst |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000790 | Hematuria |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0000822 | Hypertension |
| HP:0001407 | Hepatic cysts |
| Disease ID | Disease Name |
|---|---|
| OMIM:173900 |
|
| ORPHA:730 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100144606 | FELCA35710 | ||
| 101327877 | TURTR03726 | ||
| 100670642 | LOXAF06756 | ||
| 100516429 | PIGXX21136 | ||
| 102170931 | CAPHI16541 | ||
| 105981898 | DIPOR08190 | ||
| 100768622 | CRIGR08903 | ||
| 18763 | MGI:97603 | MOUSE20261 | |
| 24650 | RGD:3333 | RATNO01191 | |
| 100732613 | CAVPO03184 |
