Gene
slc13a5a
- ID
- ZDB-GENE-030131-4628
- Name
- solute carrier family 13 member 5a
- Symbol
- slc13a5a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have citrate transmembrane transporter activity; sodium:dicarboxylate symporter activity; and succinate transmembrane transporter activity. Involved in citrate transport. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 25. Is expressed in female organism. Orthologous to human SLC13A5 (solute carrier family 13 member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Newman et al., 2019
- 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 25 | Alliance | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | 615905 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sodium/sulphate symporter, conserved site | Solute carrier family 13 |
|---|---|---|---|
|
UniProtKB:A0A8M1NSQ7
|
578 | ||
|
UniProtKB:A0A2R8QQN0
|
582 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc13a5a-202
(1)
|
Ensembl | 2,096 nt | ||
| mRNA |
slc13a5a-203
(1)
|
Ensembl | 2,706 nt | ||
| ncRNA |
slc13a5a-002
(1)
|
Ensembl | 584 nt |
Interactions and Pathways
No data available
Plasmids
No data available