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
Enables D-glucose transmembrane transporter activity. Acts upstream of or within several processes, including D-glucose import; endothelial cell development; and vasculature development. Predicted to be located in membrane. Predicted to be active in apical plasma membrane and basolateral plasma membrane. Is expressed in several structures, including cardiovascular system; intermediate mesoderm; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in childhood absence epilepsy; glucose transporter type 1 deficiency syndrome (multiple); myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
36 figures from 27 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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
Allele Type Localization Consequence Mutagen Supplier
fcc27GtTransgenic insertionUnknownSplicing VariantDNA
la028504TgTransgenic insertionUnknownUnknownDNA
s3034Allele with one deletionUnknownUnknownCRISPR
sa43972Allele with one point mutationUnknownPremature StopENU
sa43973Allele with one point mutationUnknownSplice SiteENU
zju134Allele with one delinsExon 4UnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With slc2a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
dystonia 9 Alliance Dystonia 9 601042
glucose transporter type 1 deficiency syndrome 1 Alliance GLUT1 deficiency syndrome 1, infantile onset, severe 606777
glucose transporter type 1 deficiency syndrome 2 Alliance GLUT1 deficiency syndrome 2, childhood onset 612126
obsolete idiopathic generalized epilepsy 12 Alliance {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Stomatin-deficient cryohydrocytosis with neurologic defects 608885
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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
Family IPR045263 Glucose transporter GLUT
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Domain Details Per Protein
Protein Additional Resources 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 InterPro 488
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 23
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA slc2a1a-201 (1) Ensembl 1,792 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-slc2a1a polyclonal Rabbit
  • IHC
Dako North America, Inc.
4
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Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(slc2a1a:EGFP)
  • slc2a1a
  • Danio rerio
1Quiñonez-Silvero et al., 2019
Tg(slc2a1a:mCherry)
  • slc2a1a
  • Danio rerio
1 (9)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-35J18
ContainsSNPrs3729253
    ZFIN Curated Data
    EncodesESTfc29a02
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanSLC2A11
    Phylogenetic tree (1)
    Amino acid sequence comparison (4)
    Conserved genome location (synteny) (1)
    MouseSlc2a14
    Amino acid sequence comparison (2)
    Phylogenetic tree (1)
    Citations
    1 - 10 of 69
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