Gene
slc2a1a
- ID
- ZDB-GENE-030131-3158
- Name
- solute carrier family 2 member 1a
- Symbol
- slc2a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Exhibits glucose transmembrane transporter activity. Involved in several processes, including endothelial cell development; glucose import; and vasculature development. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder; myelomeningocele; obesity; and type 2 diabetes mellitus. Is expressed in several structures, including cranial vasculature; liver; nervous system; otic vesicle; and pleuroperitoneal region. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 35 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| childhood onset GLUT1 deficiency syndrome 2 | Alliance | GLUT1 deficiency syndrome 2, childhood onset | 612126 |
| dystonia 9 | Alliance | Dystonia 9 | 601042 |
| idiopathic generalized epilepsy 12 | Alliance | {Epilepsy, idiopathic generalized, susceptibility to, 12} | 614847 |
| GLUT1 deficiency syndrome 1, infantile onset, severe | 606777 | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR005829 | Sugar transporter, conserved site |
| Domain | IPR020846 | Major facilitator superfamily domain |
| Family | IPR003663 | Sugar/inositol transporter |
| Family | IPR005828 | Major facilitator, sugar transporter-like |
| Family | IPR045263 | Glucose transporter GLUT |
| Homologous_superfamily | IPR036259 | MFS transporter superfamily |
Domain Details Per Protein
| Protein | Length | Glucose transporter GLUT | Major facilitator, sugar transporter-like | Major facilitator superfamily domain | MFS transporter superfamily | Sugar/inositol transporter | Sugar transporter, conserved site |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q285P3
|
488 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
slc2a1a-201
(1)
|
Havana | 1792 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-slc2a1a | polyclonal | Rabbit |
|
Dako North America, Inc.
|
4 |
Plasmids
No data available