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 have calcium channel activity. Involved in lymphangiogenesis and regulation of collagen biosynthetic process. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Is expressed in several structures, including lateral mesoderm; nervous system; neural plate; neural tube; and posterior neural rod. 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