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Aliases for SLC2A1 Gene

Aliases for SLC2A1 Gene

  • Solute Carrier Family 2 Member 1 2 3 5
  • Choreoathetosis/Spasticity, Episodic (Paroxysmal Choreoathetosis/Spasticity) 2 3
  • 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
  • SDCHCN 3
  • DYT17 3
  • DYT18 3
  • EIG12 3
  • HTLVR 3
  • DYT9 3
  • GLUT 3
  • PED 3
  • CSE 3

External Ids for SLC2A1 Gene

Previous HGNC Symbols for SLC2A1 Gene

  • GLUT1
  • GLUT
  • HTLVR
  • CSE

Previous GeneCards Identifiers for SLC2A1 Gene

  • GC01P043382
  • GC01M042395
  • GC01M042855
  • GC01M042804
  • GC01M043060
  • GC01M043164
  • GC01M043391
  • GC01M041511

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 Member 1) is a Protein Coding gene. Diseases associated with SLC2A1 include Stomatin-Deficient Cryohydrocytosis With Neurologic Defects and Glut1 Deficiency Syndrome 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and transmembrane transporter activity. An important paralog of this gene is SLC2A4.

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 transporters enable the movement of glucose, a hydrophilic molecule, across the cell membrane. Glucose is an essential source of energy for mammalian cells, and is also used as a substrate in protein and lipid synthesis.

Gene Wiki entry for SLC2A1 Gene

Additional gene information for SLC2A1 Gene

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

Genomics for SLC2A1 Gene

GeneHancer (GH) Regulatory Elements for SLC2A1 Gene

Promoters and enhancers for SLC2A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I042949 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.7 +2.4 2361 15.6 FEZF1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF585B GLIS1 RCOR2 SLC2A1 SLC2A1-AS1 SZT2 ARTN PPIH P3H1 MED8 RNU6-880P ERMAP LOC101929609
GH01I042928 Enhancer 0.7 ENCODE dbSUPER 12.5 +30.8 30786 0.4 NFE2 ZBTB33 RELA TEAD3 SLC2A1-AS1 SLC2A1 RNU6-880P ENSG00000228192 ZNF691 ENSG00000284138 ATP6V1E1P1
GH01I042965 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.5 -7.7 -7721 2.9 PKNOX1 ATF1 ARNT SIN3A FEZF1 TCF12 ZNF121 ZNF766 GLIS2 ATF7 SLC2A1-AS1 RNU6-880P HYI SLC2A1 CCDC30 ENSG00000283973
GH01I043003 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.1 -48.0 -48040 6.7 PKNOX1 ARID4B SIN3A DMAP1 ETS1 SLC30A9 ZNF143 ATF7 SP5 MIER2 SLC2A1-AS1 SLC2A1 C1orf210 GC01P043019 RNU6-880P
GH01I042930 Enhancer 0.3 dbSUPER 12.5 +30.0 29954 0.8 SSRP1 SLC2A1 SLC2A1-AS1 RNU6-880P ENSG00000284138 ATP6V1E1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC2A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC2A1 gene promoter:

Genomic Locations for SLC2A1 Gene

Genomic Locations for SLC2A1 Gene
chr1:42,925,375-42,959,176
(GRCh38/hg38)
Size:
33,802 bases
Orientation:
Minus strand
chr1:43,391,046-43,424,847
(GRCh37/hg19)

Genomic View for SLC2A1 Gene

Genes around SLC2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:18347014). Interacts with SNX27; the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (PubMed:23563491). Interacts with STOM (PubMed:23219802). Interacts with SGTA (via Gln-rich region) (By similarity).

    Three dimensional structures from OCA and Proteopedia for SLC2A1 Gene

neXtProt entry for SLC2A1 Gene

Post-translational modifications for SLC2A1 Gene

Other Protein References for SLC2A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC2A1 (GLUT1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC2A1

No data available for DME Specific Peptides for SLC2A1 Gene

Domains & Families for SLC2A1 Gene

Gene Families for SLC2A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC2A1 Gene

Graphical View of Domain Structure for InterPro Entry

P11166

UniProtKB/Swiss-Prot:

GTR1_HUMAN :
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Family:
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
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.

Phenotypes From GWAS Catalog for SLC2A1 Gene

Gene Ontology (GO) - Molecular Function for SLC2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005355 glucose transmembrane transporter activity TAS --
GO:0005515 protein binding IPI 18347014
GO:0019900 kinase binding IEA --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC2A1: view
genes like me logo Genes that share phenotypes with SLC2A1: view

Human Phenotype Ontology for SLC2A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC2A1 Gene

MGI Knock Outs for SLC2A1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC2A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
golgi apparatus 4
nucleus 3
cytosol 3
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

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 IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SLC2A1: view

Pathways & Interactions for SLC2A1 Gene

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

SIGNOR curated interactions for SLC2A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005989 lactose biosynthetic process TAS --
GO:0006461 protein complex assembly IDA 18347014
GO:0006810 transport IEA --
GO:0006970 response to osmotic stress IEA --
GO:0007565 female pregnancy IEA --
genes like me logo Genes that share ontologies with SLC2A1: view

Drugs & Compounds for SLC2A1 Gene

(74) Drugs for SLC2A1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
glucose Approved, Vet_approved Pharma Transporter, substrate 0
Etomidate Approved Pharma Carrier, inhibitor General anesthetic with GABA modulatory and GABA-mimetic actions 68
Fludeoxyglucose F-18 Approved, Investigational Pharma Transporter, substrate 0
Resveratrol Approved, Experimental, Investigational Pharma Target Cyclooxygenase inhibitor 126
D-glucose Approved Pharma 0

(40) Additional Compounds for SLC2A1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-Dehydroascorbic acid
490-83-5

(1) Tocris Compounds for SLC2A1 Gene

Compound Action Cas Number
L-Dehydroascorbic acid GLUT1 substrate; oxidized form of L-Ascorbic acid 490-83-5

(3) ApexBio Compounds for SLC2A1 Gene

Compound Action Cas Number
Metformin HCl Anti-diabetic drug 1115-70-4
Phloretin A dihydrochalcone found in apple 60-82-2
STF 31 724741-75-7
genes like me logo Genes that share compounds with SLC2A1: view

Drug Products

Transcripts for SLC2A1 Gene

Unigene Clusters for SLC2A1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.2) and Skin - Not Sun Exposed (Suprapubic) (x4.3).

Protein differential expression in normal tissues from HIPED for SLC2A1 Gene

This gene is overexpressed in Nasal epithelium (27.8), Retina (15.7), and Placenta (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC2A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC2A1 Gene:

SLC2A1

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.

Evidence on tissue expression from TISSUES for SLC2A1 Gene

  • Nervous system(5)
  • Liver(4.9)
  • Kidney(4.2)
  • Intestine(3.7)
  • Skin(3.6)
  • Eye(3)
  • Muscle(3)
  • Blood(2.8)
  • Heart(2.8)
  • Lung(2.8)
  • Pancreas(2.8)
  • Lymph node(2.3)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC2A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • diaphragm
  • heart
  • lung
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC2A1: view

No data available for Protein tissue co-expression partners for SLC2A1 Gene

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 33 34
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia SLC2A1 33 34
  • 93.29 (n)
cow
(Bos Taurus)
Mammalia SLC2A1 33 34
  • 92.34 (n)
rat
(Rattus norvegicus)
Mammalia Slc2a1 33
  • 89.63 (n)
mouse
(Mus musculus)
Mammalia Slc2a1 33 16 34
  • 89.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC2A1 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC2A1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC2A1 33 34
  • 80.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53301 33
zebrafish
(Danio rerio)
Actinopterygii slc2a1a 34
  • 75 (a)
OneToMany
slc2a1b 33 34
  • 72.51 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11901 33
fruit fly
(Drosophila melanogaster)
Insecta Glut1 35 34
  • 50 (a)
sut1 35
  • 37 (a)
CG7882 35
  • 34 (a)
sut4 35
  • 33 (a)
sut2 35
  • 30 (a)
sut3 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea H17B01.1a 35
  • 39 (a)
H17B01.1b 35
  • 39 (a)
R09B5.11 35 34
  • 37 (a)
fgt-1 34
  • 37 (a)
ManyToMany
F53H8.3 35 34
  • 32 (a)
K08F9.1 35
  • 27 (a)
C35A11.4 35
  • 26 (a)
Y37A1A.3 35
  • 25 (a)
F48E3.2 35
  • 23 (a)
Y61A9LA.1 35
  • 22 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL034W 33
  • 47.98 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 28 (a)
ManyToMany
VPS73 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7972 34
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7007 33
Species where no ortholog for SLC2A1 was found in the sources mined by GeneCards:
  • 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

Paralogs for SLC2A1 Gene

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 Variation AA Info Type
rs1002919142 uncertain-significance, Glucose transporter type 1 deficiency syndrome, Dystonia 42,926,719(-) A/C/G 3_prime_UTR_variant
rs1057515457 uncertain-significance, Dystonia, Glucose transporter type 1 deficiency syndrome 42,925,430(-) A/G 3_prime_UTR_variant
rs1057515458 uncertain-significance, Dystonia, Glucose transporter type 1 deficiency syndrome 42,925,760(-) T/C 3_prime_UTR_variant
rs1057515570 uncertain-significance, Glucose transporter type 1 deficiency syndrome, Dystonia 42,925,477(-) G/A 3_prime_UTR_variant
rs1057518821 pathogenic, Cerebellar ataxia, Global developmental delay, Microcephaly, Myoclonus, Seizures 42,930,672(-) CCC/CCCC coding_sequence_variant, frameshift

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

Variant ID Type Subtype PubMed ID
esv2657422 CNV deletion 23128226
esv3585860 CNV loss 21293372
nsv699 CNV insertion 18451855

Variation tolerance for SLC2A1 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC2A1 Gene

Human Gene Mutation Database (HGMD)
SLC2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC2A1 Gene

Disorders for SLC2A1 Gene

MalaCards: The human disease database

(77) MalaCards diseases for SLC2A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GTR1_HUMAN
  • 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.
  • 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, ECO:0000269 PubMed:23280796}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:24847886}. 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.
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885]: A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder. {ECO:0000269 PubMed:21791420, ECO:0000269 PubMed:22492876}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC2A1 Gene

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

Additional Disease Information for SLC2A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC2A1: view

Publications for SLC2A1 Gene

  1. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. (PMID: 21832227) Weber YG … Lerche H (Neurology 2011) 2 3 4 58
  2. The GLUT-1 XbaI gene polymorphism is associated with vascular calcifications in nondiabetic uremic patients. (PMID: 18311082) Rufino M … Salido E (Nephron. Clinical practice 2008) 3 22 44 58
  3. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PMID: 18451999) Weber YG … Lerche H (The Journal of clinical investigation 2008) 2 3 4 58
  4. The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV. (PMID: 14622599) Manel N … Battini JL (Cell 2003) 2 3 22 58
  5. Autosomal dominant transmission of GLUT1 deficiency. (PMID: 11136715) Klepper J … Voit T (Human molecular genetics 2001) 3 4 22 58

Products for SLC2A1 Gene

Sources for SLC2A1 Gene