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
- Exhibits low-density lipoprotein particle receptor activity. Involved in cellular response to lipopolysaccharide; cholesterol homeostasis; and receptor-mediated endocytosis involved in cholesterol transport. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Alzheimer's disease; arteriosclerosis; familial hypercholesterolemia; hepatitis C; and migraine without aura. Is expressed in intestine and liver. 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 |
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 |
| Family | IPR050685 | Low-density lipoprotein receptor |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR011042 | Six-bladed beta-propeller, TolB-like |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
| Repeat | IPR000033 | LDLR class B repeat |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | 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 | NOTCH1 EGF-like calcium-binding domain | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZZT0
|
911 | ||||||||||||
|
UniProtKB:E9QGD4
|
870 |
Interactions and Pathways
No data available
Plasmids
No data available