Homo sapiens Gene: SLC2A1
Summary
InnateDB Gene IDBG-97330.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC2A1
Gene Name solute carrier family 2 (facilitated glucose transporter), member 1
Synonyms DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED
Species Homo sapiens
Ensembl Gene ENSG00000117394
Encoded Proteins
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Jul 2008]
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:42925381-42958859
Strand Reverse strand
Band p34.2
Transcripts
ENST00000372500 ENSP00000361578
ENST00000426263 ENSP00000416293
ENST00000439722 ENSP00000395521
ENST00000415851 ENSP00000394591
ENST00000475162
ENST00000460369
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005355 glucose transmembrane transporter activity
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0022857 transmembrane transporter activity
GO:0022891 substrate-specific transmembrane transporter activity
GO:0033300 dehydroascorbic acid transporter activity
GO:0042802 identical protein binding
GO:0042910 xenobiotic transporter activity
GO:0043621 protein self-association
GO:0055056 D-glucose transmembrane transporter activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006112 energy reserve metabolic process
GO:0006461 protein complex assembly
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006970 response to osmotic stress
GO:0008645 hexose transport
GO:0015758 glucose transport
GO:0019852 L-ascorbic acid metabolic process
GO:0042149 cellular response to glucose starvation
GO:0042908 xenobiotic transport
GO:0044281 small molecule metabolic process
GO:0050796 regulation of insulin secretion
GO:0055085 transmembrane transport
GO:0070837 dehydroascorbic acid transport
Cellular Component
GO:0001939 female pronucleus
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030496 midbody
GO:0030864 cortical actin cytoskeleton
GO:0031982 vesicle
GO:0042470 melanosome
GO:0070062 extracellular vesicular exosome
GO:0072562 blood microparticle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
IL3 pathway
TSH pathway
REACTOME
Glucose transport pathway
Hexose transport pathway
Regulation of insulin secretion pathway
Integration of energy metabolism pathway
Vitamin C (ascorbate) metabolism pathway
Transmembrane transport of small molecules pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Myoclonic epilepsy of Lafora pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of carbohydrates pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
SLC-mediated transmembrane transport pathway
Disease pathway
Glycogen storage diseases pathway
Metabolism of vitamins and cofactors pathway
KEGG
Renal cell carcinoma pathway
Adipocytokine signaling pathway pathway
Pathways in cancer pathway
Bile secretion pathway
INOH
PID NCI
Validated targets of C-MYC transcriptional activation
HIF-2-alpha transcription factor network
HIF-1-alpha transcription factor network
Cross-References
SwissProt
TrEMBL C9JR18
UniProt Splice Variant
Entrez Gene 6513
UniGene Hs.473721
RefSeq NM_006516
HUGO HGNC:11005
OMIM 138140
CCDS CCDS477
HPRD 00683
IMGT
EMBL AC099795
GenPept
RNA Seq Atlas 6513