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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 |
|---|---|---|
| membrane | ||
| Golgi apparatus | ||
| Golgi-associated vesicle membrane |
|
|
| lateral plasma membrane | ||
| polycystin complex |
| 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:0050876 | Caroli disease | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0070115 | Meckel syndrome 1 | |
| DOID:0070116 | Meckel syndrome 2 | |
| DOID:0070117 | Meckel syndrome 3 | |
| DOID:0070118 | Meckel syndrome 4 | |
| DOID:0070119 | Meckel syndrome 5 | |
| DOID:0070120 | Meckel syndrome 6 |
- 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 |
|---|---|---|---|
| 103189894 | CALMI42505 | ||
| 102346103 | LATCH15560 | ||
| 102698500 | LEPOC03659 | ||
| 100149562 | ZFIN:ZDB-GENE-100707-1 | DANRE18519 | |
| 565697 | ZFIN:ZDB-GENE-100707-2 | ||
| 108258414 | ICTPU21515 | ||
| 733339 | Xenbase:XB-GENE-483413 | ||
| 100494429 | Xenbase:XB-GENE-483409 | ||
| 109314618 | CROPO22953 | ||
| 100550252 | MELGA04487 |
