Gene

slc2a1a

ID
ZDB-GENE-030131-3158
Name
solute carrier family 2 member 1a
Symbol
slc2a1a Nomenclature History
Previous Names
  • fc29a02
  • glut1 (1)
  • glut1a (1)
  • slc2a1 (1)
  • glut1b (1)
  • wu:fc29a02
  • zglut1b (1)
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. Is expressed in several structures, including cranial vasculature; liver; nervous system; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder; myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
Genome Resources
Note
None
Expression
All Expression Data
28 figures from 19 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc2a1a Human Ortholog
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
Associated With slc2a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Homologous_superfamily IPR036259 MFS transporter superfamily
Domain Details Per Protein
Protein Length Major facilitator, sugar transporter-like Major facilitator superfamily domain MFS transporter superfamily Sugar/inositol transporter Sugar transporter, conserved site
UniProtKB:Q285P3 488
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-slc2a1 polyclonal Rabbit
  • IHC
Dako North America, Inc.
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations