Gene
slc52a3-1
- ID
- ZDB-GENE-060421-4490
- Name
- solute carrier family 52 member 3-1
- Symbol
- slc52a3-1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable riboflavin transmembrane transporter activity. Predicted to be involved in riboflavin transport. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease. Orthologous to human SLC52A3 (solute carrier family 52 member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| Brown-Vialetto-Van Laere syndrome 1 | Alliance | Brown-Vialetto-Van Laere syndrome 1 | 211530 |
| Fazio-Londe disease | Alliance | ?Fazio-Londe disease | 211500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009357 | Solute carrier family 52, riboflavin transporter |
Domain Details Per Protein
| Protein | Additional Resources | Length | Solute carrier family 52, riboflavin transporter |
|---|---|---|---|
| UniProtKB:B0S5Y3 | InterPro | 448 | |
| UniProtKB:A0A0R4I9C5 | InterPro | 448 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc52a3-1-201
(1)
|
Ensembl | 3,546 nt | ||
| mRNA |
slc52a3-1-202
(1)
|
Ensembl | 1,964 nt |
Interactions and Pathways
No data available
Plasmids
No data available