Gene
ldlrap1a
- ID
- ZDB-GENE-030328-13
- Name
- low density lipoprotein receptor adaptor protein 1a
- Symbol
- ldlrap1a Nomenclature History
- Previous Names
-
- sb:cb50
- zgc:56121
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to act upstream of or within cholesterol metabolic process and endocytosis. Predicted to be located in cytoplasm. Predicted to be active in early endosome. Is expressed in several structures, including apical ectodermal ridge pectoral fin bud; axis; cardiovascular system; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in autosomal recessive hypercholesterolemia. Orthologous to human LDLRAP1 (low density lipoprotein receptor adaptor protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb50 (25 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive hypercholesterolemia | Alliance | Hypercholesterolemia, familial, 4 | 603813 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Adapter and Engulfment Domain-Containing Protein | PH-like domain superfamily | PTB/PI domain |
|---|---|---|---|---|---|
| UniProtKB:A0A8M2B6I6 | InterPro | 275 | |||
| UniProtKB:Q7ZVB8 | InterPro | 287 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ldlrap1a-201
(1)
|
Ensembl | 1,490 nt |
Interactions and Pathways
No data available
Plasmids
No data available