Gene
pkd1a
- ID
- ZDB-GENE-100707-1
- Name
- polycystic kidney disease 1a
- Symbol
- pkd1a Nomenclature History
- Previous Names
-
- pkd1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to contribute to monoatomic cation channel activity. Acts upstream of or within several processes, including liver development; lymphangiogenesis; and regulation of collagen biosynthetic process. Predicted to be located in cilium and membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including head; neuromast; notochord; pectoral fin bud; and pronephros. Used to study autosomal dominant polycystic kidney disease and polycystic liver disease. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| polycystic kidney disease 1 | Alliance | Polycystic kidney disease 1 | 173900 |
1 - 1 of 1
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| autosomal dominant polycystic kidney disease | pkd1azf1067/zf1067 | standard conditions | Zhu et al., 2017 |
| polycystic liver disease | WT + MO1-pkd1a | standard conditions | Tietz Bogert et al., 2013 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Carbohydrate-binding WSC | C-type lectin fold | C-type lectin-like | C-type lectin-like/link domain superfamily | Cysteine-rich flanking region, C-terminal | GPS motif | Immunoglobulin-like fold | Leucine-rich repeat | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | PKD/Chitinase domain | PKD domain | PKD domain superfamily | PKD/REJ-like domain | PLAT/LH2 domain | PLAT/LH2 domain superfamily | Polycystic kidney disease type 1 protein | Polycystin cation channel | Polycystin cation channel, PKD1/PKD2 | Polycystin domain | REJ domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QIA9 | InterPro | 4281 | |||||||||||||||||||||
| UniProtKB:A0A8M9QBN4 | InterPro | 4625 |
1 - 2 of 2
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance