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 have riboflavin transmembrane transporter activity. Predicted to be involved in riboflavin transport. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in Brown-Vialetto-Van Laere syndrome 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 | Length | Solute carrier family 52, riboflavin transporter |
|---|---|---|
|
UniProtKB:B0S5Y3
|
448 | |
|
UniProtKB:A0A0R4I9C5
|
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