Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC2A1 Gene

Aliases for SLC2A1 Gene

  • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1 2 3
  • Human T-Cell Leukemia Virus (I And II) Receptor 2 3
  • Glucose Transporter Type 1, Erythrocyte/Brain 3 4
  • HepG2 Glucose Transporter 3 4
  • GLUT-1 3 4
  • GLUT1 3 4
  • Solute Carrier Family 2, Facilitated Glucose Transporter Member 1 3
  • Receptor For HTLV-1 And HTLV-2 3
  • GLUT1DS 3
  • DYT17 3
  • DYT18 3
  • EIG12 3
  • HTLVR 3
  • DYT9 3
  • GLUT 3
  • PED 3

External Ids for SLC2A1 Gene

Previous Symbols for SLC2A1 Gene

  • GLUT1
  • GLUT
  • HTLVR

Summaries for SLC2A1 Gene

Entrez Gene Summary for SLC2A1 Gene

  • 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]

GeneCards Summary for SLC2A1 Gene

SLC2A1 (Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC2A1 include glut1 deficiency syndrome 1 and glucose transporter type 1 deficiency syndrome. Among its related pathways are Disease and Pathways in cancer. GO annotations related to this gene include identical protein binding and protein self-association. An important paralog of this gene is ENSG00000251357.

UniProtKB/Swiss-Prot for SLC2A1 Gene

  • Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses.

Tocris Summary for SLC2A1 Gene

  • Glucose is an essential source of energy for mammalian cells, and is also used as a substrate in protein and lipid synthesis. Given its hydrophilic nature, glucose must be transported into the cell by dedicated transporters; these are encoded by genes known collectively as the facilitative glucose transporter gene family (GLUT). There are 13 known members of the GLUT family. Glucose transporters maintain a ready supply of glucose for the cells metabolic activity. During growth and division, the energy demands of a cell are increased; it needs glucose to generate ATP and biomass. Cancer cells, which proliferate at a greater rate, thus require more energy than a normal cell. Aerobic glycolysis - often observed in tumor cells, and also known as the Warburg effect - relies on a high rate of glucose uptake, since the generation of ATP by this process is far less efficient than oxidative phosphorylation. Glucose transporters, in particular GLUT1, have therefore become a target of interest in cancer research, as have glycolytic inhibitors.

Gene Wiki entry for SLC2A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC2A1 Gene

Genomics for SLC2A1 Gene

Genomic Location for SLC2A1 Gene

Start:
42,925,375 bp from pter
End:
42,959,176 bp from pter
Size:
33,802 bases
Orientation:
Minus strand

Genomic View for SLC2A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC2A1 Gene

Regulatory Elements for SLC2A1 Gene

Proteins for SLC2A1 Gene

  • Protein details for SLC2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11166-GTR1_HUMAN
    Recommended name:
    Solute carrier family 2, facilitated glucose transporter member 1
    Protein Accession:
    P11166
    Secondary Accessions:
    • A8K9S6
    • B2R620
    • D3DPX0
    • O75535
    • Q147X2

    Protein attributes for SLC2A1 Gene

    Size:
    492 amino acids
    Molecular mass:
    54084 Da
    Quaternary structure:
    • Interacts with GIPC (via PDZ domain) (By similarity). Found in a complex with ADD2, DMTN and SLC2A1. Interacts (via C-terminus cytoplasmic region) with DMTN isoform 2. Interacts with SNX27; the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane. Interacts with STOM.

    Three dimensional structures from OCA and Proteopedia for SLC2A1 Gene

neXtProt entry for SLC2A1 Gene

Proteomics data for SLC2A1 Gene at MOPED

Post-translational modifications for SLC2A1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys245 and Lys477
  • Glycosylation at Asn45

Other Protein References for SLC2A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC2A1 Gene

Domains for SLC2A1 Gene

Gene Families for SLC2A1 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

UniProtKB/Swiss-Prot:

GTR1_HUMAN
Family:
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.:
    • P11166
genes like me logo Genes that share domains with SLC2A1: view

Function for SLC2A1 Gene

Molecular function for SLC2A1 Gene

GENATLAS Biochemistry: solute carrier family 2,member A1,facilitated glucose transporter,not associated with susceptibility to NIDDM
UniProtKB/Swiss-Prot Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses.

Gene Ontology (GO) - Molecular Function for SLC2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005351 sugar:proton symporter activity IBA --
GO:0005355 glucose transmembrane transporter activity TAS --
GO:0005515 protein binding IPI 18347014
GO:0019900 kinase binding IEA --
GO:0022857 transmembrane transporter activity --
genes like me logo Genes that share ontologies with SLC2A1: view
genes like me logo Genes that share phenotypes with SLC2A1: view

Animal Models for SLC2A1 Gene

MGI Knock Outs for SLC2A1:

miRNA for SLC2A1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC2A1 Gene

Localization for SLC2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC2A1 Gene

Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC2A1 Gene COMPARTMENTS Subcellular localization image for SLC2A1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
mitochondrion 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001939 female pronucleus IEA --
GO:0005622 intracellular --
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SLC2A1: view

Pathways for SLC2A1 Gene

SuperPathways for SLC2A1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
3 Integration of energy metabolism
4 Regulation of Glucokinase by Glucokinase Regulatory Protein
5 Disease
genes like me logo Genes that share pathways with SLC2A1: view

Gene Ontology (GO) - Biological Process for SLC2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005989 lactose biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006461 protein complex assembly IDA 18347014
GO:0006766 vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with SLC2A1: view

Compounds for SLC2A1 Gene

(1) Tocris Compounds for SLC2A1 Gene

Compound Action Cas Number
STF 31 GLUT1 inhibitor [724741-75-7]

(1) HMDB Compounds for SLC2A1 Gene

Compound Synonyms Cas Number PubMed IDs
D-Glucose
  • (+)-Glucose
50-99-7

(3) Drugbank Compounds for SLC2A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-deoxyglucose
  • 2-Deoxy-D-arabino-hexose
154-17-6 transporter
Dehydroascorbic Acid
  • Dehydroascorbate
490-83-5 transporter
Etomidate
33125-97-2 carrier inhibitor

(1) IUPHAR Ligand for SLC2A1 Gene

Ligand Type Action Affinity Pubmed IDs
[3H]2-deoxyglucose None None

(103) Novoseek inferred chemical compound relationships for SLC2A1 Gene

Compound -log(P) Hits PubMed IDs
glucose 90.1 359
cytochalasin b 84.3 73
2-deoxyglucose 84.3 46
3-o-methylglucose 82.8 20
2-n-4-(1-azi-2,2,2-trifluoroethyl)benzoyl-1,3-bis(d-mannos-4-yloxy)-2-propylamine 72.1 1
genes like me logo Genes that share compounds with SLC2A1: view

Transcripts for SLC2A1 Gene

Unigene Clusters for SLC2A1 Gene

Solute carrier family 2 (facilitated glucose transporter), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - - - - -
SP6: -
SP7: - - - - - - - - - -
SP8:

Relevant External Links for SLC2A1 Gene

GeneLoc Exon Structure for
SLC2A1
ECgene alternative splicing isoforms for
SLC2A1

Expression for SLC2A1 Gene

mRNA expression in normal human tissues for SLC2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC2A1 Gene

This gene is overexpressed in Nerve - Tibial (6.2) and Skin - Not Sun Exposed (Suprapubic) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC2A1 Gene

SOURCE GeneReport for Unigene cluster for SLC2A1 Gene Hs.473721

mRNA Expression by UniProt/SwissProt for SLC2A1 Gene

P11166-GTR1_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.
genes like me logo Genes that share expressions with SLC2A1: view

Orthologs for SLC2A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC2A1 36
  • 98.88 (n)
  • 98.31 (a)
SLC2A1 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC2A1 36
  • 92.34 (n)
  • 97.15 (a)
SLC2A1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC2A1 36
  • 93.29 (n)
  • 97.36 (a)
SLC2A1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc2a1 36
  • 89.5 (n)
  • 97.15 (a)
Slc2a1 16
Slc2a1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC2A1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC2A1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc2a1 36
  • 89.63 (n)
  • 97.76 (a)
chicken
(Gallus gallus)
Aves SLC2A1 36
  • 80.87 (n)
  • 88.52 (a)
SLC2A1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53301 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11901 36
zebrafish
(Danio rerio)
Actinopterygii slc2a1a 37
  • 75 (a)
OneToMany
slc2a1b 36
  • 72.51 (n)
  • 80 (a)
slc2a1b 37
  • 79 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Glut1 37
  • 30 (a)
OneToMany
Glut1 38
  • 50 (a)
CG7882 38
  • 34 (a)
sut3 38
  • 30 (a)
sut4 38
  • 33 (a)
sut1 38
  • 37 (a)
sut2 38
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea F53H8.3 37
  • 27 (a)
ManyToMany
fgt-1 37
  • 37 (a)
ManyToMany
R09B5.11 37
  • 35 (a)
ManyToMany
H17B01.1a 38
  • 39 (a)
R09B5.11 38
  • 37 (a)
H17B01.1b 38
  • 39 (a)
Y61A9LA.1 38
  • 22 (a)
Y37A1A.3 38
  • 25 (a)
F48E3.2 38
  • 23 (a)
K08F9.1 38
  • 27 (a)
C35A11.4 38
  • 26 (a)
F53H8.3 38
  • 32 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL034W 36
  • 47.98 (n)
  • 33.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 28 (a)
ManyToMany
VPS73 37
  • 26 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7007 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7972 37
  • 47 (a)
OneToMany
Species with no ortholog for SLC2A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC2A1 Gene

ENSEMBL:
Gene Tree for SLC2A1 (if available)
TreeFam:
Gene Tree for SLC2A1 (if available)

Paralogs for SLC2A1 Gene

Selected SIMAP similar genes for SLC2A1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SLC2A1 Gene

genes like me logo Genes that share paralogs with SLC2A1: view

Variants for SLC2A1 Gene

Sequence variations from dbSNP and Humsavar for SLC2A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs4658 -- 42,926,579(-) CACCC(C/G)TTCTG utr-variant-3-prime
rs5811 Likely benign 42,929,696(-) GGAGA(A/C)GAAGG reference, missense
rs11933 -- 42,926,391(-) ACTGA(G/T)GNCCA utr-variant-3-prime
rs12876 -- 42,927,215(-) TTCAT(C/T)ATCTT reference, synonymous-codon
rs710219 -- 42,956,333(-) CTGCC(C/T)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC2A1 Gene

Variant ID Type Subtype PubMed ID
nsv699 CNV Insertion 18451855
esv2657422 CNV Deletion 23128226

Relevant External Links for SLC2A1 Gene

HapMap Linkage Disequilibrium report
SLC2A1
Human Gene Mutation Database (HGMD)
SLC2A1

Disorders for SLC2A1 Gene

UniProtKB/Swiss-Prot

GTR1_HUMAN
  • GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]: A neurologic disorder showing wide phenotypic variability. The most severe classic phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. {ECO:0000269 PubMed:10227690, ECO:0000269 PubMed:10980529, ECO:0000269 PubMed:11136715, ECO:0000269 PubMed:11603379, ECO:0000269 PubMed:12325075, ECO:0000269 PubMed:15622525, ECO:0000269 PubMed:19901175, ECO:0000269 PubMed:20129935, ECO:0000269 PubMed:20221955, ECO:0000269 PubMed:20574033}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269 PubMed:14605501, ECO:0000269 PubMed:18451999, ECO:0000269 PubMed:19630075, ECO:0000269 PubMed:19798636, ECO:0000269 PubMed:20129935, ECO:0000269 PubMed:20574033, ECO:0000269 PubMed:20621801, ECO:0000269 PubMed:20830593, ECO:0000269 PubMed:21204808}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. {ECO:0000269 PubMed:19798636, ECO:0000269 PubMed:22282645}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia 9 (DYT9) [MIM:601042]: An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. {ECO:0000269 PubMed:21832227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(95) Novoseek inferred disease relationships for SLC2A1 Gene

Disease -log(P) Hits PubMed IDs
perineurioma 71.3 4
microcephaly 62.2 12
tumors 54.7 250
developmental delay 54 15
insulin resistance 51.5 15

Genatlas disease for SLC2A1 Gene

infantile seizures,microcephaly,developmental delay and hypoglycorrhachia,caused by haploinsufficiency of the blood-brain barrier hexose carrier

Relevant External Links for SLC2A1

GeneTests
SLC2A1
GeneReviews
SLC2A1
Genetic Association Database (GAD)
SLC2A1
Human Genome Epidemiology (HuGE) Navigator
SLC2A1
genes like me logo Genes that share disorders with SLC2A1: view

Publications for SLC2A1 Gene

  1. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PMID: 18451999) Weber Y.G. … Lerche H. (J. Clin. Invest. 2008) 2 3 4 23
  2. Risk genotypes and haplotypes of the GLUT1 gene for type 2 diabetic nephropathy in the Tunisian population. (PMID: 18821326) Makni K. … Ayadi H. (Ann. Hum. Biol. 2008) 3 23 49
  3. The GLUT-1 XbaI gene polymorphism is associated with vascular calcifications in nondiabetic uremic patients. (PMID: 18311082) Rufino M. … Salido E. (Nephron Clin Pract 2008) 3 23 49
  4. The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV. (PMID: 14622599) Manel N. … Battini J.L. (Cell 2003) 2 3 23
  5. Association between the GLUT1 gene polymorphism and the risk of diabetic nephropathy: a meta-analysis. (PMID: 15682272) Zintzaras E. … Stefanidis I. (J. Hum. Genet. 2005) 3 23 49

Products for SLC2A1 Gene

  • antibodies-online proteins for SLC2A1
  • antibodies-online antibodies for SLC2A1
  • antibodies-online kits for SLC2A1

Sources for SLC2A1 Gene

Back to Top

Content