Gene
pkd1b
- ID
- ZDB-GENE-100707-2
- Name
- polycystic kidney disease 1b
- Symbol
- pkd1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to contribute to monoatomic cation channel activity. Acts upstream of or within lymphangiogenesis and regulation of collagen biosynthetic process. Predicted to be located in cilium; endomembrane system; and membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including lateral mesoderm; nervous system; neural plate; neural tube; and posterior neural rod. 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
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zhu et al., 2017
- 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000203 | GPS motif |
| Conserved_site | IPR018378 | C-type lectin, conserved site |
| Domain | IPR000601 | PKD domain |
| Domain | IPR001024 | PLAT/LH2 domain |
| Domain | IPR001304 | C-type lectin-like |
| Domain | IPR002859 | PKD/REJ-like domain |
| Domain | IPR013122 | Polycystin cation channel, PKD1/PKD2 |
| Domain | IPR014010 | REJ domain |
| Domain | IPR022409 | PKD/Chitinase domain |
| Domain | IPR042060 | Polycystin-1 like, PLAT/LH2 domain |
| Domain | IPR046791 | Polycystin domain |
| Family | IPR000434 | Polycystic kidney disease type 1 protein |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR016186 | C-type lectin-like/link domain superfamily |
| Homologous_superfamily | IPR016187 | C-type lectin fold |
| Homologous_superfamily | IPR035986 | PKD domain superfamily |
| Homologous_superfamily | IPR036392 | PLAT/LH2 domain superfamily |
Domain Details Per Protein
| Protein | Length | C-type lectin, conserved site | C-type lectin fold | C-type lectin-like | C-type lectin-like/link domain superfamily | GPS motif | Immunoglobulin-like fold | 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-1 like, PLAT/LH2 domain | Polycystin cation channel, PKD1/PKD2 | Polycystin domain | REJ domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QJ55
|
3989 | |||||||||||||||||
|
UniProtKB:A0A8M9QMX0
|
4007 |
Interactions and Pathways
No data available
Plasmids
No data available