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P11166

- GTR1_HUMAN

UniProt

P11166 - GTR1_HUMAN

Protein

Solute carrier family 2, facilitated glucose transporter member 1

Gene

SLC2A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 179 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    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.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei317 – 3171Monosaccharide
    Binding sitei388 – 3881Monosaccharide
    Sitei411 – 4111Not glycosylated

    GO - Molecular functioni

    1. dehydroascorbic acid transporter activity Source: Ensembl
    2. D-glucose transmembrane transporter activity Source: Ensembl
    3. glucose transmembrane transporter activity Source: UniProtKB
    4. identical protein binding Source: IntAct
    5. protein binding Source: UniProtKB
    6. protein self-association Source: UniProtKB
    7. xenobiotic transporter activity Source: Ensembl

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cellular response to glucose starvation Source: Ensembl
    3. energy reserve metabolic process Source: Reactome
    4. glucose transport Source: UniProtKB
    5. hexose transport Source: Reactome
    6. L-ascorbic acid metabolic process Source: Reactome
    7. protein complex assembly Source: UniProtKB
    8. regulation of insulin secretion Source: Reactome
    9. response to osmotic stress Source: Ensembl
    10. small molecule metabolic process Source: Reactome
    11. transmembrane transport Source: Reactome
    12. vitamin metabolic process Source: Reactome
    13. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_11202. Vitamin C (ascorbate) metabolism.
    REACT_18325. Regulation of insulin secretion.
    REACT_19343. Facilitative Na+-independent glucose transporters.
    REACT_212. Glucose transport.

    Protein family/group databases

    TCDBi2.A.1.1.28. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 2, facilitated glucose transporter member 1
    Alternative name(s):
    Glucose transporter type 1, erythrocyte/brain
    Short name:
    GLUT-1
    HepG2 glucose transporter
    Gene namesi
    Name:SLC2A1
    Synonyms:GLUT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11005. SLC2A1.

    Subcellular locationi

    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.

    GO - Cellular componenti

    1. basolateral plasma membrane Source: Ensembl
    2. blood microparticle Source: UniProt
    3. caveola Source: Ensembl
    4. cell-cell junction Source: Ensembl
    5. cortical actin cytoskeleton Source: UniProtKB
    6. extracellular vesicular exosome Source: UniProt
    7. female pronucleus Source: Ensembl
    8. integral component of plasma membrane Source: UniProtKB
    9. melanosome Source: UniProtKB-SubCell
    10. membrane Source: ProtInc
    11. midbody Source: UniProtKB
    12. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341N → S in GLUT1DS1; 55% of wild-type glucose uptake activity. 1 Publication
    VAR_054756
    Natural varianti34 – 341N → Y in GLUT1DS1. 1 Publication
    VAR_065206
    Natural varianti66 – 661S → F in GLUT1DS1. 1 Publication
    VAR_013283
    Natural varianti91 – 911G → D in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose. 2 Publications
    VAR_013182
    Natural varianti96 – 961M → V in GLUT1DS1. 1 Publication
    VAR_065209
    Natural varianti126 – 1261R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 Publications
    VAR_054757
    Natural varianti126 – 1261R → H in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity. 4 Publications
    VAR_013183
    Natural varianti126 – 1261R → L in GLUT1DS1; compound heterozygote with V-256. 1 Publication
    VAR_013184
    Natural varianti130 – 1301G → S in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 Publications
    VAR_054758
    Natural varianti146 – 1461E → K in GLUT1DS1. 2 Publications
    VAR_013284
    Natural varianti153 – 1531R → C in GLUT1DS1; 44% of wild-type glucose uptake activity. 2 Publications
    VAR_054759
    Natural varianti155 – 1551A → V in GLUT1DS1. 1 Publication
    VAR_065211
    Natural varianti169 – 1691Missing in GLUT1DS1; 48% of wild-type glucose uptake activity. 1 Publication
    VAR_054760
    Natural varianti212 – 2121R → C in GLUT1DS1 and DYT9. 2 Publications
    VAR_065213
    Natural varianti212 – 2121R → H in GLUT1DS1. 1 Publication
    VAR_065214
    Natural varianti223 – 2231R → W in GLUT1DS1. 1 Publication
    VAR_065216
    Natural varianti256 – 2561K → E in GLUT1DS1; compound heterozygote with L-126. 1 Publication
    VAR_013185
    Natural varianti292 – 2921Y → YY in GLUT1DS1. 1 Publication
    VAR_069079
    Natural varianti295 – 2951T → M in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 Publications
    VAR_054763
    Natural varianti310 – 3101T → I in GLUT1DS1. 1 Publication
    VAR_013285
    Natural varianti329 – 3291E → Q in GLUT1DS1; stabilizes the inward-open conformation. 1 Publication
    VAR_065220
    Natural varianti333 – 3331R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications
    VAR_065221
    Natural varianti333 – 3331R → W in GLUT1DS1; 43% of wild-type glucose uptake activity. 3 Publications
    VAR_013286
    Natural varianti382 – 3821G → D in GLUT1DS1. 1 Publication
    VAR_065222
    Natural varianti405 – 4051A → D in GLUT1DS1. 1 Publication
    VAR_065223
    Natural varianti468 – 4681R → W in GLUT1DS1. 1 Publication
    VAR_069080
    Natural varianti485 – 4851P → L in GLUT1DS1. 1 Publication
    VAR_065224
    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.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341N → I in GLUT1DS2. 1 Publication
    VAR_054755
    Natural varianti92 – 921R → W in GLUT1DS2. 1 Publication
    VAR_069077
    Natural varianti93 – 931R → W in GLUT1DS2. 1 Publication
    VAR_065207
    Natural varianti95 – 951S → I in GLUT1DS2. 1 Publication
    VAR_065208
    Natural varianti126 – 1261R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 Publications
    VAR_054757
    Natural varianti153 – 1531R → H in GLUT1DS2. 1 Publication
    VAR_065210
    Natural varianti165 – 1651V → I in GLUT1DS2. 1 Publication
    VAR_065212
    Natural varianti275 – 2751A → T in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 1 Publication
    VAR_054761
    Natural varianti282 – 2854Missing in GLUT1DS2; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium.
    VAR_054762
    Natural varianti294 – 2941S → P in GLUT1DS2. 1 Publication
    VAR_065784
    Natural varianti314 – 3141G → S in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 2 Publications
    VAR_054764
    Natural varianti317 – 3171N → T in GLUT1DS2. 1 Publication
    VAR_065218
    Natural varianti324 – 3241S → L in GLUT1DS2; mild phenotype; reduced transporter activity. 2 Publications
    VAR_065219
    Natural varianti333 – 3331R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications
    VAR_065221
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti223 – 2231R → P in EIG12; mild phenotype; reduced transporter activity. 2 Publications
    VAR_065215
    Natural varianti232 – 2321R → C in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type. 1 Publication
    VAR_069078
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 Publications
    VAR_054757
    Natural varianti212 – 2121R → C in GLUT1DS1 and DYT9. 2 Publications
    VAR_065213

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi45 – 451N → T: Loss of glycosylation site. 1 Publication
    Mutagenesisi192 – 1921I → C: Strongly decreases glucose transport. 1 Publication
    Mutagenesisi204 – 2041L → C: Abolishes glucose transport. 1 Publication
    Mutagenesisi205 – 2051P → C: Abolishes glucose transport. 1 Publication
    Mutagenesisi340 – 3401G → C: Strongly decreases glucose transport. 1 Publication

    Keywords - Diseasei

    Disease mutation, Dystonia, Epilepsy

    Organism-specific databases

    MIMi601042. phenotype.
    606777. phenotype.
    612126. phenotype.
    614847. phenotype.
    Orphaneti64280. Childhood absence epilepsy.
    71277. Encephalopathy due to GLUT1 deficiency.
    1942. Epilepsy with myoclonic-astatic seizures.
    168577. Hereditary cryohydrocytosis with reduced stomatin.
    53583. Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
    98811. Paroxysmal exertion-induced dyskinesia.
    PharmGKBiPA35875.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 492492Solute carrier family 2, facilitated glucose transporter member 1PRO_0000050338Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Glycosylationi45 – 451N-linked (GlcNAc...)2 Publications
    Modified residuei478 – 4781Phosphothreonine1 Publication
    Modified residuei490 – 4901Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP11166.
    PaxDbiP11166.
    PeptideAtlasiP11166.
    PRIDEiP11166.

    PTM databases

    PhosphoSiteiP11166.
    UniCarbKBiP11166.

    Expressioni

    Tissue specificityi

    Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.1 Publication

    Gene expression databases

    ArrayExpressiP11166.
    BgeeiP11166.
    CleanExiHS_SLC2A1.
    GenevestigatoriP11166.

    Organism-specific databases

    HPAiCAB002759.

    Interactioni

    Subunit structurei

    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.By similarity4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-717153,EBI-717153

    Protein-protein interaction databases

    BioGridi112404. 15 interactions.
    DIPiDIP-23N.
    IntActiP11166. 5 interactions.
    MINTiMINT-1386229.
    STRINGi9606.ENSP00000416293.

    Structurei

    Secondary structure

    1
    492
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi12 – 3019
    Helixi37 – 5216
    Helixi58 – 9033
    Helixi93 – 11119
    Helixi113 – 1164
    Helixi120 – 14728
    Helixi153 – 17321
    Turni177 – 1804
    Turni183 – 1853
    Helixi186 – 1916
    Helixi194 – 20310
    Helixi204 – 2063
    Helixi211 – 2155
    Helixi221 – 23111
    Helixi238 – 25316
    Helixi259 – 2646
    Helixi266 – 2694
    Helixi271 – 28313
    Turni284 – 2863
    Helixi287 – 2926
    Helixi294 – 3018
    Helixi306 – 33025
    Helixi333 – 35725
    Turni358 – 3603
    Helixi364 – 38118
    Turni382 – 3854
    Helixi386 – 3949
    Turni397 – 3993
    Helixi400 – 42122
    Helixi424 – 4274
    Helixi430 – 4323
    Helixi433 – 45018

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1SUKmodel-A1-492[»]
    4PYPX-ray3.17A1-492[»]
    ProteinModelPortaliP11166.
    SMRiP11166. Positions 19-465.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1111Cytoplasmic1 PublicationAdd
    BLAST
    Topological domaini34 – 6633Extracellular1 PublicationAdd
    BLAST
    Topological domaini88 – 903Cytoplasmic1 Publication
    Topological domaini113 – 1208Extracellular1 Publication
    Topological domaini145 – 15511Cytoplasmic1 PublicationAdd
    BLAST
    Topological domaini177 – 1859Extracellular1 Publication
    Topological domaini207 – 27165Cytoplasmic1 PublicationAdd
    BLAST
    Topological domaini294 – 30613Extracellular1 PublicationAdd
    BLAST
    Topological domaini329 – 3346Cytoplasmic1 Publication
    Topological domaini356 – 36510Extracellular1 Publication
    Topological domaini389 – 40113Cytoplasmic1 PublicationAdd
    BLAST
    Topological domaini423 – 4297Extracellular1 Publication
    Topological domaini451 – 49242Cytoplasmic1 PublicationAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei12 – 3322Helical; Name=1Add
    BLAST
    Transmembranei67 – 8721Helical; Name=2Add
    BLAST
    Transmembranei91 – 11222Helical; Name=3Add
    BLAST
    Transmembranei121 – 14424Helical; Name=4Add
    BLAST
    Transmembranei156 – 17621Helical; Name=5Add
    BLAST
    Transmembranei186 – 20621Helical; Name=6Add
    BLAST
    Transmembranei272 – 29322Helical; Name=7Add
    BLAST
    Transmembranei307 – 32822Helical; Name=8Add
    BLAST
    Transmembranei335 – 35521Helical; Name=9Add
    BLAST
    Transmembranei366 – 38823Helical; Name=10Add
    BLAST
    Transmembranei402 – 42221Helical; Name=11Add
    BLAST
    Transmembranei430 – 45021Helical; Name=12Add
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni282 – 2887Monosaccharide binding

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOVERGENiHBG014816.
    KOiK07299.
    OMAiQTWIHRY.
    PhylomeDBiP11166.
    TreeFamiTF313762.

    Family and domain databases

    InterProiIPR002439. Glu_transpt_1.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005828. Sub_transporter.
    IPR003663. Sugar/inositol_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view]
    PfamiPF00083. Sugar_tr. 1 hit.
    [Graphical view]
    PRINTSiPR01190. GLUCTRSPORT1.
    PR00171. SUGRTRNSPORT.
    SUPFAMiSSF103473. SSF103473. 2 hits.
    TIGRFAMsiTIGR00879. SP. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    PS00217. SUGAR_TRANSPORT_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P11166-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH    50
    RYGESILPTT LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN 100
    LLAFVSAVLM GFSKLGKSFE MLILGRFIIG VYCGLTTGFV PMYVGEVSPT 150
    ALRGALGTLH QLGIVVGILI AQVFGLDSIM GNKDLWPLLL SIIFIPALLQ 200
    CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD LQEMKEESRQ 250
    MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK 300
    AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL 350
    MTIALALLEQ LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR 400
    PAAIAVAGFS NWTSNFIVGM CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF 450
    KVPETKGRTF DEIASGFRQG GASQSDKTPE ELFHPLGADS QV 492
    Length:492
    Mass (Da):54,084
    Last modified:October 3, 2006 - v2
    Checksum:iE71E1C6BD1B00B1E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 262Missing in BAF85480. (PubMed:14702039)Curated
    Sequence conflicti95 – 951S → L in BAF85480. (PubMed:14702039)Curated
    Sequence conflicti152 – 1521L → F in AAA52571. (PubMed:3839598)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341N → I in GLUT1DS2. 1 Publication
    VAR_054755
    Natural varianti34 – 341N → S in GLUT1DS1; 55% of wild-type glucose uptake activity. 1 Publication
    VAR_054756
    Natural varianti34 – 341N → Y in GLUT1DS1. 1 Publication
    VAR_065206
    Natural varianti66 – 661S → F in GLUT1DS1. 1 Publication
    VAR_013283
    Natural varianti91 – 911G → D in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose. 2 Publications
    VAR_013182
    Natural varianti92 – 921R → W in GLUT1DS2. 1 Publication
    VAR_069077
    Natural varianti93 – 931R → W in GLUT1DS2. 1 Publication
    VAR_065207
    Natural varianti95 – 951S → I in GLUT1DS2. 1 Publication
    VAR_065208
    Natural varianti96 – 961M → V in GLUT1DS1. 1 Publication
    VAR_065209
    Natural varianti126 – 1261R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 Publications
    VAR_054757
    Natural varianti126 – 1261R → H in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity. 4 Publications
    VAR_013183
    Natural varianti126 – 1261R → L in GLUT1DS1; compound heterozygote with V-256. 1 Publication
    VAR_013184
    Natural varianti130 – 1301G → S in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 Publications
    VAR_054758
    Natural varianti146 – 1461E → K in GLUT1DS1. 2 Publications
    VAR_013284
    Natural varianti153 – 1531R → C in GLUT1DS1; 44% of wild-type glucose uptake activity. 2 Publications
    VAR_054759
    Natural varianti153 – 1531R → H in GLUT1DS2. 1 Publication
    VAR_065210
    Natural varianti155 – 1551A → V in GLUT1DS1. 1 Publication
    VAR_065211
    Natural varianti165 – 1651V → I in GLUT1DS2. 1 Publication
    VAR_065212
    Natural varianti169 – 1691Missing in GLUT1DS1; 48% of wild-type glucose uptake activity. 1 Publication
    VAR_054760
    Natural varianti212 – 2121R → C in GLUT1DS1 and DYT9. 2 Publications
    VAR_065213
    Natural varianti212 – 2121R → H in GLUT1DS1. 1 Publication
    VAR_065214
    Natural varianti223 – 2231R → P in EIG12; mild phenotype; reduced transporter activity. 2 Publications
    VAR_065215
    Natural varianti223 – 2231R → W in GLUT1DS1. 1 Publication
    VAR_065216
    Natural varianti232 – 2321R → C in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type. 1 Publication
    VAR_069078
    Natural varianti256 – 2561K → E in GLUT1DS1; compound heterozygote with L-126. 1 Publication
    VAR_013185
    Natural varianti275 – 2751A → T in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 1 Publication
    VAR_054761
    Natural varianti282 – 2854Missing in GLUT1DS2; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium.
    VAR_054762
    Natural varianti292 – 2921Y → YY in GLUT1DS1. 1 Publication
    VAR_069079
    Natural varianti294 – 2941S → P in GLUT1DS2. 1 Publication
    VAR_065784
    Natural varianti295 – 2951T → M in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 Publications
    VAR_054763
    Natural varianti303 – 3031V → L Found in a patient with GLUT1 deficiency syndrome. 1 Publication
    VAR_065217
    Natural varianti310 – 3101T → I in GLUT1DS1. 1 Publication
    VAR_013285
    Natural varianti314 – 3141G → S in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 2 Publications
    VAR_054764
    Natural varianti317 – 3171N → T in GLUT1DS2. 1 Publication
    VAR_065218
    Natural varianti324 – 3241S → L in GLUT1DS2; mild phenotype; reduced transporter activity. 2 Publications
    VAR_065219
    Natural varianti329 – 3291E → Q in GLUT1DS1; stabilizes the inward-open conformation. 1 Publication
    VAR_065220
    Natural varianti333 – 3331R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications
    VAR_065221
    Natural varianti333 – 3331R → W in GLUT1DS1; 43% of wild-type glucose uptake activity. 3 Publications
    VAR_013286
    Natural varianti382 – 3821G → D in GLUT1DS1. 1 Publication
    VAR_065222
    Natural varianti405 – 4051A → D in GLUT1DS1. 1 Publication
    VAR_065223
    Natural varianti468 – 4681R → W in GLUT1DS1. 1 Publication
    VAR_069080
    Natural varianti485 – 4851P → L in GLUT1DS1. 1 Publication
    VAR_065224

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03195 mRNA. Translation: AAA52571.1.
    AK292791 mRNA. Translation: BAF85480.1.
    AK312403 mRNA. Translation: BAG35317.1.
    CH471059 Genomic DNA. Translation: EAX07124.1.
    BC118590 mRNA. Translation: AAI18591.1.
    M20653 Genomic DNA. Translation: AAB61084.1.
    AF070544 mRNA. Translation: AAC28635.1.
    AY034633 mRNA. Translation: AAK56795.1.
    CCDSiCCDS477.1.
    PIRiA27217.
    RefSeqiNP_006507.2. NM_006516.2.
    UniGeneiHs.473721.

    Genome annotation databases

    EnsembliENST00000426263; ENSP00000416293; ENSG00000117394.
    GeneIDi6513.
    KEGGihsa:6513.
    UCSCiuc001cik.2. human.

    Polymorphism databases

    DMDMi115502394.

    Cross-referencesi

    Web resourcesi

    Wikipedia

    GLUT1 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03195 mRNA. Translation: AAA52571.1 .
    AK292791 mRNA. Translation: BAF85480.1 .
    AK312403 mRNA. Translation: BAG35317.1 .
    CH471059 Genomic DNA. Translation: EAX07124.1 .
    BC118590 mRNA. Translation: AAI18591.1 .
    M20653 Genomic DNA. Translation: AAB61084.1 .
    AF070544 mRNA. Translation: AAC28635.1 .
    AY034633 mRNA. Translation: AAK56795.1 .
    CCDSi CCDS477.1.
    PIRi A27217.
    RefSeqi NP_006507.2. NM_006516.2.
    UniGenei Hs.473721.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1SUK model - A 1-492 [» ]
    4PYP X-ray 3.17 A 1-492 [» ]
    ProteinModelPortali P11166.
    SMRi P11166. Positions 19-465.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112404. 15 interactions.
    DIPi DIP-23N.
    IntActi P11166. 5 interactions.
    MINTi MINT-1386229.
    STRINGi 9606.ENSP00000416293.

    Chemistry

    BindingDBi P11166.
    ChEMBLi CHEMBL2535.
    DrugBanki DB00292. Etomidate.
    GuidetoPHARMACOLOGYi 875.

    Protein family/group databases

    TCDBi 2.A.1.1.28. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei P11166.
    UniCarbKBi P11166.

    Polymorphism databases

    DMDMi 115502394.

    Proteomic databases

    MaxQBi P11166.
    PaxDbi P11166.
    PeptideAtlasi P11166.
    PRIDEi P11166.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000426263 ; ENSP00000416293 ; ENSG00000117394 .
    GeneIDi 6513.
    KEGGi hsa:6513.
    UCSCi uc001cik.2. human.

    Organism-specific databases

    CTDi 6513.
    GeneCardsi GC01M043391.
    GeneReviewsi SLC2A1.
    HGNCi HGNC:11005. SLC2A1.
    HPAi CAB002759.
    MIMi 138140. gene.
    601042. phenotype.
    606777. phenotype.
    612126. phenotype.
    614847. phenotype.
    neXtProti NX_P11166.
    Orphaneti 64280. Childhood absence epilepsy.
    71277. Encephalopathy due to GLUT1 deficiency.
    1942. Epilepsy with myoclonic-astatic seizures.
    168577. Hereditary cryohydrocytosis with reduced stomatin.
    53583. Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
    98811. Paroxysmal exertion-induced dyskinesia.
    PharmGKBi PA35875.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOVERGENi HBG014816.
    KOi K07299.
    OMAi QTWIHRY.
    PhylomeDBi P11166.
    TreeFami TF313762.

    Enzyme and pathway databases

    Reactomei REACT_11202. Vitamin C (ascorbate) metabolism.
    REACT_18325. Regulation of insulin secretion.
    REACT_19343. Facilitative Na+-independent glucose transporters.
    REACT_212. Glucose transport.

    Miscellaneous databases

    ChiTaRSi SLC2A1. human.
    GeneWikii GLUT1.
    GenomeRNAii 6513.
    NextBioi 25327.
    PROi P11166.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P11166.
    Bgeei P11166.
    CleanExi HS_SLC2A1.
    Genevestigatori P11166.

    Family and domain databases

    InterProi IPR002439. Glu_transpt_1.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005828. Sub_transporter.
    IPR003663. Sugar/inositol_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view ]
    Pfami PF00083. Sugar_tr. 1 hit.
    [Graphical view ]
    PRINTSi PR01190. GLUCTRSPORT1.
    PR00171. SUGRTRNSPORT.
    SUPFAMi SSF103473. SSF103473. 2 hits.
    TIGRFAMsi TIGR00879. SP. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    PS00217. SUGAR_TRANSPORT_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, GLYCOSYLATION AT ASN-45, LACK OF GLYCOSYLATION AT ASN-411, IDENTIFICATION BY MASS SPECTROMETRY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain and Trachea.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "Characterization and expression of human HepG2/erythrocyte glucose-transporter gene."
      Fukumoto H., Seino S., Imura H., Seino Y., Bell G.I.
      Diabetes 37:657-661(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-6.
    6. Yu W., Gibbs R.A.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 150-492.
      Tissue: Brain.
    7. "Molecular characterization and cloning of glucose transporters in human articular chondrocytes."
      Neama G., Richardson S., Bell S., Carter S., Mobasheri A.
      Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 294-423.
      Tissue: Articular cartilage.
    8. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    9. "Transmembrane segment 6 of the Glut1 glucose transporter is an outer helix and contains amino acid side chains essential for transport activity."
      Mueckler M., Makepeace C.
      J. Biol. Chem. 283:11550-11555(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-192; LEU-204 AND PRO-205.
    10. "Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1."
      Khan A.A., Hanada T., Mohseni M., Jeong J.J., Zeng L., Gaetani M., Li D., Reed B.C., Speicher D.W., Chishti A.H.
      J. Biol. Chem. 283:14600-14609(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH ADD2 AND DMTN, INTERACTION WITH DMTN, IDENTIFICATION BY MASS SPECTROMETRY.
    11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis."
      Mueckler M., Makepeace C.
      Biochemistry 48:5934-5942(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-340.
    13. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
      Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45.
      Tissue: Leukemic T-cell.
    14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-478, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-490, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
      Rungaldier S., Oberwagner W., Salzer U., Csaszar E., Prohaska R.
      Biochim. Biophys. Acta 1828:956-966(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH STOM, SUBUNIT.
    19. "A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport."
      Steinberg F., Gallon M., Winfield M., Thomas E.C., Bell A.J., Heesom K.J., Tavare J.M., Cullen P.J.
      Nat. Cell Biol. 15:461-471(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SNX27.
    20. "Crystal structure of the human glucose transporter GLUT1."
      Deng D., Xu C., Sun P., Wu J., Yan C., Hu M., Yan N.
      Nature 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF VARIANT GLUT1DS1 GLN-329 IN COMPLEX WITH NONYL-BETA-D-GLUCOSIDE, SUBCELLULAR LOCATION, TOPOLOGY, MUTAGENESIS OF ASN-45.
    21. "Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome."
      Klepper J., Wang D., Fischbarg J., Vera J.C., Jarjour I.T., O'Driscoll K.R., De Vivo D.C.
      Neurochem. Res. 24:587-594(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLUT1DS1 ILE-310.
    22. "Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome."
      Wang D., Kranz-Eble P., De Vivo D.C.
      Hum. Mutat. 16:224-231(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS1 PHE-66; LEU-126; LYS-146; GLU-256 AND TRP-333.
    23. Erratum
      Wang D., Kranz-Eble P., De Vivo D.C.
      Hum. Mutat. 16:527-527(2000)
    24. Cited for: VARIANT GLUT1DS1 HIS-126.
    25. Cited for: VARIANT GLUT1DS1 ASP-91.
    26. "Imaging the metabolic footprint of Glut1 deficiency on the brain."
      Pascual J.M., van Heertum R.L., Wang D., Engelstad K., De Vivo D.C.
      Ann. Neurol. 52:458-464(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS1 CYS-126; HIS-126; LYS-146; CYS-153 AND TRP-333.
    27. Cited for: VARIANT GLUT1DS2 ILE-34.
    28. "Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects."
      Wang D., Pascual J.M., Yang H., Engelstad K., Jhung S., Sun R.P., De Vivo D.C.
      Ann. Neurol. 57:111-118(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS1 SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333, CHARACTERIZATION OF VARIANTS GLUT1 DEFICIENCY SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333.
    29. Cited for: VARIANTS GLUT1DS2 THR-275; 282-GLN--SER-285 DEL AND SER-314.
    30. Cited for: VARIANT EIG12 PRO-223, VARIANTS GLUT1DS2 CYS-126 AND LEU-324, CHARACTERIZATION OF VARIANT EIG12 PRO-223, CHARACTERIZATION OF VARIANTS GLUT1DS2 CYS-126 AND LEU-324.
    31. "Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome."
      Perez-Duenas B., Prior C., Ma Q., Fernandez-Alvarez E., Setoain X., Artuch R., Pascual J.M.
      Arch. Neurol. 66:1410-1414(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLUT1DS1 TYR-292 INS.
    32. "GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias."
      Schneider S.A., Paisan-Ruiz C., Garcia-Gorostiaga I., Quinn N.P., Weber Y.G., Lerche H., Hardy J., Bhatia K.P.
      Mov. Disord. 24:1684-1688(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS2 TRP-92 AND GLN-333.
    33. Cited for: VARIANT GLUT1DS1 TRP-468.
    34. "Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder."
      Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D., Bekhof J., van Bogaert P., Carrilho I., Chabrol B., Champion M.P., Coldwell J., Clayton P., Donner E.
      , Evangeliou A., Ebinger F., Farrell K., Forsyth R.J., de Goede C.G., Gross S., Grunewald S., Holthausen H., Jayawant S., Lachlan K., Laugel V., Leppig K., Lim M.J., Mancini G., Marina A.D., Martorell L., McMenamin J., Meuwissen M.E., Mundy H., Nilsson N.O., Panzer A., Poll-The B.T., Rauscher C., Rouselle C.M., Sandvig I., Scheffner T., Sheridan E., Simpson N., Sykora P., Tomlinson R., Trounce J., Webb D., Weschke B., Scheffer H., Willemsen M.A.
      Brain 133:655-670(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS1 TYR-34; VAL-96; SER-130; VAL-155; CYS-212; HIS-212; TRP-223; MET-295; GLN-329; GLN-333; ASP-382; ASP-405 AND LEU-485, VARIANTS GLUT1DS2 TRP-93 AND HIS-153, VARIANT LEU-303.
    35. "Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency."
      Afawi Z., Suls A., Ekstein D., Kivity S., Neufeld M.Y., Oliver K., De Jonghe P., Korczyn A.D., Berkovic S.F.
      Epilepsia 51:2466-2469(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLUT1DS2 THR-317.
    36. "Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation."
      Urbizu A., Cuenca-Leon E., Raspall-Chaure M., Gratacos M., Conill J., Redecillas S., Roig-Quilis M., Macaya A.
      J. Neurol. Sci. 295:110-113(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLUT1DS2 ILE-165.
    37. "Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency."
      Mullen S.A., Suls A., De Jonghe P., Berkovic S.F., Scheffer I.E.
      Neurology 75:432-440(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324, VARIANTS GLUT1DS1 ASP-91 AND HIS-126.
    38. "Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency."
      Anheim M., Maillart E., Vuillaumier-Barrot S., Flamand-Rouviere C., Pineau F., Ewenczyk C., Riant F., Apartis E., Roze E.
      J. Neurol. 258:316-317(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLUT1DS2 PRO-294.
    39. Cited for: VARIANTS DYT9 CYS-126 AND CYS-212.
    40. Cited for: VARIANT EIG12 CYS-232, CHARACTERIZATION OF VARIANT EIG12 CYS-232.

    Entry informationi

    Entry nameiGTR1_HUMAN
    AccessioniPrimary (citable) accession number: P11166
    Secondary accession number(s): A8K9S6
    , B2R620, D3DPX0, O75535, Q147X2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 179 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3