Gene
ldlra
- ID
- ZDB-GENE-031217-1
- Name
- low density lipoprotein receptor a
- Symbol
- ldlra Nomenclature History
- Previous Names
-
- ldlr
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Enables low-density lipoprotein particle receptor activity. Acts upstream of or within several processes, including cellular response to lipopolysaccharide; cholesterol homeostasis; and receptor-mediated endocytosis involved in cholesterol transport. Predicted to be located in clathrin-coated pit. Predicted to be part of low-density lipoprotein particle. Predicted to be active in early endosome and plasma membrane. Is expressed in female organism; intestine; liver; and male organism. Human ortholog(s) of this gene implicated in Alzheimer's disease; arteriosclerosis; familial hypercholesterolemia; hepatitis C; and migraine without aura. Orthologous to human LDLR (low density lipoprotein receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hypercholesterolemia | Alliance | Hypercholesterolemia, familial, 1 | 143890 |
| familial hypercholesterolemia | Alliance | LDL cholesterol level QTL2 | 143890 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
1 - 5 of 12 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | 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 | Low-density lipoprotein receptor-related | NOTCH1 EGF-like calcium-binding domain | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZZT0 | InterPro | 911 | ||||||||||||
| UniProtKB:E9QGD4 | InterPro | 870 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available