Gene
lrp5
- ID
- ZDB-GENE-050518-2
- Name
- low density lipoprotein receptor-related protein 5
- Symbol
- lrp5 Nomenclature History
- Previous Names
-
- LRP6
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have Wnt-activated receptor activity and Wnt-protein binding activity. Involved in animal organ development; canonical Wnt signaling pathway; and sensory perception of sound. Predicted to localize to plasma membrane and receptor complex. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; bone remodeling disease (multiple); eye disease (multiple); osteoporosis-pseudoglioma syndrome; and polycystic liver disease. Is expressed in several structures, including brain; head; pectoral fin bud; posterior lateral line primordium; and tail bud. Orthologous to human LRP5 (LDL receptor related protein 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant osteopetrosis 1 | Alliance | Osteopetrosis, autosomal dominant 1 | 607634 |
| exudative vitreoretinopathy 4 | Alliance | Exudative vitreoretinopathy 4 | 601813 |
| osteoporosis-pseudoglioma syndrome | Alliance | Osteoporosis-pseudoglioma syndrome | 259770 |
| Worth syndrome | Alliance | Endosteal hyperostosis | 144750 |
| Polycystic liver disease 4 with or without kidney cysts | 617875 | ||
| [Bone mineral density variability 1] | 601884 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| osteoporosis | AB + CRISPR3-lrp5 | control | Bek et al., 2021 |
| osteoporosis | lrp5sa11097/sa11097 (AB) | standard conditions | Bek et al., 2021 |
| nonsyndromic deafness | WT + MO5-lrp5 + MO6-lrp5 | standard conditions | Xia et al., 2017 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Homologous_superfamily | IPR011042 | Six-bladed beta-propeller, TolB-like |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| Repeat | IPR000033 | LDLR class B repeat |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | Length | EGF-like domain | LDLR class B repeat | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | Low-density lipoprotein (LDL) receptor class A repeat | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|
|
UniProtKB:D0EWS1
|
1430 | ||||||
|
UniProtKB:A0A8M3AZI2
|
1613 | ||||||
|
UniProtKB:F1QTJ4
|
1615 |
- Genome Browsers
Interactions and Pathways
Plasmids
No data available