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Protein

Solute carrier family 2, facilitated glucose transporter member 1

Gene

SLC2A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Binding sitei317Monosaccharide1
Binding sitei388Monosaccharide1

GO - Molecular functioni

  • dehydroascorbic acid transporter activity Source: Reactome
  • D-glucose transmembrane transporter activity Source: UniProtKB
  • glucose transmembrane transporter activity Source: UniProtKB
  • protein self-association Source: UniProtKB
  • xenobiotic transporter activity Source: Ensembl

GO - Biological processi

  • cellular response to glucose starvation Source: Ensembl
  • glucose transmembrane transport Source: UniProtKB
  • glucose transport Source: UniProtKB
  • lactose biosynthetic process Source: Reactome
  • L-ascorbic acid metabolic process Source: Reactome
  • protein complex assembly Source: UniProtKB
  • regulation of insulin secretion Source: Reactome
  • response to osmotic stress Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117394-MONOMER.
ReactomeiR-HSA-196836. Vitamin C (ascorbate) metabolism.
R-HSA-422356. Regulation of insulin secretion.
R-HSA-428790. Facilitative Na+-independent glucose transporters.
R-HSA-5653890. Lactose synthesis.
R-HSA-70153. Glucose transport.
SIGNORiP11166.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:11005. SLC2A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 11Cytoplasmic1 PublicationAdd BLAST11
Transmembranei12 – 33Helical; Name=1Add BLAST22
Topological domaini34 – 66Extracellular1 PublicationAdd BLAST33
Transmembranei67 – 87Helical; Name=2Add BLAST21
Topological domaini88 – 90Cytoplasmic1 Publication3
Transmembranei91 – 112Helical; Name=3Add BLAST22
Topological domaini113 – 120Extracellular1 Publication8
Transmembranei121 – 144Helical; Name=4Add BLAST24
Topological domaini145 – 155Cytoplasmic1 PublicationAdd BLAST11
Transmembranei156 – 176Helical; Name=5Add BLAST21
Topological domaini177 – 185Extracellular1 Publication9
Transmembranei186 – 206Helical; Name=6Add BLAST21
Topological domaini207 – 271Cytoplasmic1 PublicationAdd BLAST65
Transmembranei272 – 293Helical; Name=7Add BLAST22
Topological domaini294 – 306Extracellular1 PublicationAdd BLAST13
Transmembranei307 – 328Helical; Name=8Add BLAST22
Topological domaini329 – 334Cytoplasmic1 Publication6
Transmembranei335 – 355Helical; Name=9Add BLAST21
Topological domaini356 – 365Extracellular1 Publication10
Transmembranei366 – 388Helical; Name=10Add BLAST23
Topological domaini389 – 401Cytoplasmic1 PublicationAdd BLAST13
Transmembranei402 – 422Helical; Name=11Add BLAST21
Topological domaini423 – 429Extracellular1 Publication7
Transmembranei430 – 450Helical; Name=12Add BLAST21
Topological domaini451 – 492Cytoplasmic1 PublicationAdd BLAST42

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • basolateral plasma membrane Source: Ensembl
  • blood microparticle Source: UniProtKB
  • caveola Source: Ensembl
  • cell-cell junction Source: Ensembl
  • cortical actin cytoskeleton Source: UniProtKB
  • cytosol Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • female pronucleus Source: Ensembl
  • Golgi membrane Source: Reactome
  • integral component of plasma membrane Source: UniProtKB
  • melanosome Source: UniProtKB-SubCell
  • membrane Source: ProtInc
  • midbody Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

GLUT1 deficiency syndrome 1 (GLUT1DS1)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606777
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05475634N → S in GLUT1DS1; 55% of wild-type glucose uptake activity. 1 Publication1
Natural variantiVAR_06520634N → Y in GLUT1DS1. 1 Publication1
Natural variantiVAR_01328366S → F in GLUT1DS1. 1 PublicationCorresponds to variant rs80359813dbSNPEnsembl.1
Natural variantiVAR_01318291G → D in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose. 2 PublicationsCorresponds to variant rs80359814dbSNPEnsembl.1
Natural variantiVAR_06520996M → V in GLUT1DS1. 1 PublicationCorresponds to variant rs753161833dbSNPEnsembl.1
Natural variantiVAR_054757126R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 PublicationsCorresponds to variant rs80359818dbSNPEnsembl.1
Natural variantiVAR_013183126R → H in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity. 4 PublicationsCorresponds to variant rs80359816dbSNPEnsembl.1
Natural variantiVAR_013184126R → L in GLUT1DS1; compound heterozygote with V-256. 1 PublicationCorresponds to variant rs80359816dbSNPEnsembl.1
Natural variantiVAR_054758130G → S in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 PublicationsCorresponds to variant rs80359819dbSNPEnsembl.1
Natural variantiVAR_013284146E → K in GLUT1DS1. 2 PublicationsCorresponds to variant rs80359820dbSNPEnsembl.1
Natural variantiVAR_054759153R → C in GLUT1DS1; 44% of wild-type glucose uptake activity. 2 Publications1
Natural variantiVAR_065211155A → V in GLUT1DS1. 1 Publication1
Natural variantiVAR_054760169Missing in GLUT1DS1; 48% of wild-type glucose uptake activity. 1 Publication1
Natural variantiVAR_065213212R → C in GLUT1DS1 and DYT9. 2 PublicationsCorresponds to variant rs387907312dbSNPEnsembl.1
Natural variantiVAR_065214212R → H in GLUT1DS1. 1 Publication1
Natural variantiVAR_065216223R → W in GLUT1DS1. 1 PublicationCorresponds to variant rs796053248dbSNPEnsembl.1
Natural variantiVAR_013185256K → E in GLUT1DS1; compound heterozygote with L-126. 1 PublicationCorresponds to variant rs121909738dbSNPEnsembl.1
Natural variantiVAR_069079292Y → YY in GLUT1DS1. 1 Publication1
Natural variantiVAR_054763295T → M in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 PublicationsCorresponds to variant rs80359823dbSNPEnsembl.1
Natural variantiVAR_013285310T → I in GLUT1DS1. 1 PublicationCorresponds to variant rs80359824dbSNPEnsembl.1
Natural variantiVAR_065220329E → Q in GLUT1DS1; stabilizes the inward-open conformation. 1 Publication1
Natural variantiVAR_065221333R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications1
Natural variantiVAR_013286333R → W in GLUT1DS1; 43% of wild-type glucose uptake activity. 3 PublicationsCorresponds to variant rs80359825dbSNPEnsembl.1
Natural variantiVAR_065222382G → D in GLUT1DS1. 1 Publication1
Natural variantiVAR_065223405A → D in GLUT1DS1. 1 Publication1
Natural variantiVAR_069080468R → W in GLUT1DS1. 1 PublicationCorresponds to variant rs267607059dbSNPEnsembl.1
Natural variantiVAR_065224485P → L in GLUT1DS1. 1 Publication1
GLUT1 deficiency syndrome 2 (GLUT1DS2)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612126
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05475534N → I in GLUT1DS2. 1 PublicationCorresponds to variant rs80359812dbSNPEnsembl.1
Natural variantiVAR_06907792R → W in GLUT1DS2. 1 PublicationCorresponds to variant rs202060209dbSNPEnsembl.1
Natural variantiVAR_06520793R → W in GLUT1DS2. 1 PublicationCorresponds to variant rs267607061dbSNPEnsembl.1
Natural variantiVAR_06520895S → I in GLUT1DS2. 1 PublicationCorresponds to variant rs267607060dbSNPEnsembl.1
Natural variantiVAR_054757126R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 PublicationsCorresponds to variant rs80359818dbSNPEnsembl.1
Natural variantiVAR_065210153R → H in GLUT1DS2. 1 PublicationCorresponds to variant rs794727642dbSNPEnsembl.1
Natural variantiVAR_065212165V → I in GLUT1DS2. 1 Publication1
Natural variantiVAR_054761275A → T in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 1 PublicationCorresponds to variant rs121909740dbSNPEnsembl.1
Natural variantiVAR_054762282 – 285Missing 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. 1 Publication4
Natural variantiVAR_065784294S → P in GLUT1DS2. 1 Publication1
Natural variantiVAR_054764314G → S in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 2 PublicationsCorresponds to variant rs121909739dbSNPEnsembl.1
Natural variantiVAR_065218317N → T in GLUT1DS2. 1 Publication1
Natural variantiVAR_065219324S → L in GLUT1DS2; mild phenotype; reduced transporter activity. 2 PublicationsCorresponds to variant rs796053253dbSNPEnsembl.1
Natural variantiVAR_065221333R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications1
Epilepsy, idiopathic generalized 12 (EIG12)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614847
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07622651R → H in EIG12; unknown pathological significance. 1 PublicationCorresponds to variant rs201815571dbSNPEnsembl.1
Natural variantiVAR_07622760T → M in EIG12; unknown pathological significance; decreased glucose transport. 1 PublicationCorresponds to variant rs142986731dbSNPEnsembl.1
Natural variantiVAR_07622877M → T in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_076229149P → A in EIG12; unknown pathological significance. 1 Publication1
Natural variantiVAR_076230218R → S in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_065215223R → P in EIG12; mild phenotype; reduced transporter activity. 2 PublicationsCorresponds to variant rs397514564dbSNPEnsembl.1
Natural variantiVAR_076231223R → Q in EIG12; unknown pathological significance; no effect on glucose transport. 1 PublicationCorresponds to variant rs397514564dbSNPEnsembl.1
Natural variantiVAR_069078232R → C in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type. 1 PublicationCorresponds to variant rs387907313dbSNPEnsembl.1
Natural variantiVAR_076232243E → V in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_076234411N → S in EIG12; decreased glucose transport. 1 PublicationCorresponds to variant rs398123069dbSNPEnsembl.1
Natural variantiVAR_076236458R → W in EIG12; decreased glucose transport. 1 PublicationCorresponds to variant rs13306758dbSNPEnsembl.1
Dystonia 9 (DYT9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:601042
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054757126R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 PublicationsCorresponds to variant rs80359818dbSNPEnsembl.1
Natural variantiVAR_065213212R → C in GLUT1DS1 and DYT9. 2 PublicationsCorresponds to variant rs387907312dbSNPEnsembl.1
Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608885
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076233286G → D in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage. 2 Publications1
Natural variantiVAR_076235435Missing in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi45N → T: Loss of glycosylation site. 1 Publication1
Mutagenesisi192I → C: Strongly decreases glucose transport. 1 Publication1
Mutagenesisi204L → C: Abolishes glucose transport. 1 Publication1
Mutagenesisi205P → C: Abolishes glucose transport. 1 Publication1
Mutagenesisi340G → C: Strongly decreases glucose transport. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation, Dystonia, Epilepsy, Hereditary hemolytic anemia, Mental retardation

Organism-specific databases

DisGeNETi6513.
MalaCardsiSLC2A1.
MIMi601042. phenotype.
606777. phenotype.
608885. phenotype.
612126. phenotype.
614847. phenotype.
OpenTargetsiENSG00000117394.
Orphaneti64280. Childhood absence epilepsy.
71277. Encephalopathy due to GLUT1 deficiency.
168577. Hereditary cryohydrocytosis with reduced stomatin.
53583. Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
98811. Paroxysmal exertion-induced dyskinesia.
PharmGKBiPA35875.

Chemistry databases

ChEMBLiCHEMBL2535.
DrugBankiDB00292. Etomidate.
GuidetoPHARMACOLOGYi875.

Polymorphism and mutation databases

BioMutaiSLC2A1.
DMDMi115502394.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000503381 – 492Solute carrier family 2, facilitated glucose transporter member 1Add BLAST492

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Glycosylationi45N-linked (GlcNAc...)2 Publications1
Modified residuei465PhosphoserineCombined sources1
Modified residuei478PhosphothreonineCombined sources1
Modified residuei490PhosphoserineCombined sources1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei411Not glycosylated1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP11166.
MaxQBiP11166.
PaxDbiP11166.
PeptideAtlasiP11166.
PRIDEiP11166.

PTM databases

iPTMnetiP11166.
PhosphoSitePlusiP11166.
SwissPalmiP11166.
UniCarbKBiP11166.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000117394.
CleanExiHS_SLC2A1.
ExpressionAtlasiP11166. baseline and differential.
GenevisibleiP11166. HS.

Organism-specific databases

HPAiCAB002759.
HPA031345.
HPA058494.

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

GO - Molecular functioni

  • protein self-association Source: UniProtKB

Protein-protein interaction databases

BioGridi112404. 25 interactors.
DIPiDIP-23N.
IntActiP11166. 25 interactors.
MINTiMINT-1386229.
STRINGi9606.ENSP00000416293.

Chemistry databases

BindingDBiP11166.

Structurei

Secondary structure

1492
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi11 – 30Combined sources20
Helixi37 – 52Combined sources16
Helixi58 – 90Combined sources33
Helixi92 – 98Combined sources7
Helixi100 – 111Combined sources12
Turni112 – 117Combined sources6
Helixi119 – 145Combined sources27
Turni150 – 152Combined sources3
Helixi153 – 156Combined sources4
Helixi159 – 174Combined sources16
Turni177 – 180Combined sources4
Turni183 – 185Combined sources3
Helixi186 – 191Combined sources6
Helixi194 – 203Combined sources10
Helixi204 – 206Combined sources3
Helixi211 – 215Combined sources5
Turni216 – 218Combined sources3
Helixi221 – 232Combined sources12
Helixi238 – 253Combined sources16
Helixi259 – 264Combined sources6
Turni266 – 268Combined sources3
Helixi269 – 283Combined sources15
Turni284 – 286Combined sources3
Helixi288 – 301Combined sources14
Helixi306 – 328Combined sources23
Helixi333 – 356Combined sources24
Turni357 – 360Combined sources4
Helixi364 – 379Combined sources16
Turni380 – 385Combined sources6
Helixi386 – 394Combined sources9
Turni397 – 399Combined sources3
Helixi400 – 429Combined sources30
Helixi430 – 432Combined sources3
Helixi433 – 451Combined sources19

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SUKmodel-A1-492[»]
4PYPX-ray3.17A1-492[»]
5EQGX-ray2.90A1-492[»]
5EQHX-ray2.99A1-492[»]
5EQIX-ray3.00A1-492[»]
ProteinModelPortaliP11166.
SMRiP11166.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni282 – 288Monosaccharide binding7

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0569. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00760000119022.
HOVERGENiHBG014816.
InParanoidiP11166.
KOiK07299.
OMAiMLMMNLL.
OrthoDBiEOG091G0A9K.
PhylomeDBiP11166.
TreeFamiTF313762.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR002439. Glu_transpt_1.
IPR020846. MFS_dom.
IPR005828. MFS_sugar_transport-like.
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

        10         20         30         40         50
MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH
60 70 80 90 100
RYGESILPTT LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN
110 120 130 140 150
LLAFVSAVLM GFSKLGKSFE MLILGRFIIG VYCGLTTGFV PMYVGEVSPT
160 170 180 190 200
ALRGALGTLH QLGIVVGILI AQVFGLDSIM GNKDLWPLLL SIIFIPALLQ
210 220 230 240 250
CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD LQEMKEESRQ
260 270 280 290 300
MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK
310 320 330 340 350
AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL
360 370 380 390 400
MTIALALLEQ LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR
410 420 430 440 450
PAAIAVAGFS NWTSNFIVGM CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF
460 470 480 490
KVPETKGRTF DEIASGFRQG GASQSDKTPE ELFHPLGADS QV
Length:492
Mass (Da):54,084
Last modified:October 3, 2006 - v2
Checksum:iE71E1C6BD1B00B1E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25 – 26Missing in BAF85480 (PubMed:14702039).Curated2
Sequence conflicti95S → L in BAF85480 (PubMed:14702039).Curated1
Sequence conflicti152L → F in AAA52571 (PubMed:3839598).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05475534N → I in GLUT1DS2. 1 PublicationCorresponds to variant rs80359812dbSNPEnsembl.1
Natural variantiVAR_05475634N → S in GLUT1DS1; 55% of wild-type glucose uptake activity. 1 Publication1
Natural variantiVAR_06520634N → Y in GLUT1DS1. 1 Publication1
Natural variantiVAR_07622651R → H in EIG12; unknown pathological significance. 1 PublicationCorresponds to variant rs201815571dbSNPEnsembl.1
Natural variantiVAR_07622760T → M in EIG12; unknown pathological significance; decreased glucose transport. 1 PublicationCorresponds to variant rs142986731dbSNPEnsembl.1
Natural variantiVAR_01328366S → F in GLUT1DS1. 1 PublicationCorresponds to variant rs80359813dbSNPEnsembl.1
Natural variantiVAR_07622877M → T in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_01318291G → D in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose. 2 PublicationsCorresponds to variant rs80359814dbSNPEnsembl.1
Natural variantiVAR_06907792R → W in GLUT1DS2. 1 PublicationCorresponds to variant rs202060209dbSNPEnsembl.1
Natural variantiVAR_06520793R → W in GLUT1DS2. 1 PublicationCorresponds to variant rs267607061dbSNPEnsembl.1
Natural variantiVAR_06520895S → I in GLUT1DS2. 1 PublicationCorresponds to variant rs267607060dbSNPEnsembl.1
Natural variantiVAR_06520996M → V in GLUT1DS1. 1 PublicationCorresponds to variant rs753161833dbSNPEnsembl.1
Natural variantiVAR_054757126R → C in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity. 3 PublicationsCorresponds to variant rs80359818dbSNPEnsembl.1
Natural variantiVAR_013183126R → H in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity. 4 PublicationsCorresponds to variant rs80359816dbSNPEnsembl.1
Natural variantiVAR_013184126R → L in GLUT1DS1; compound heterozygote with V-256. 1 PublicationCorresponds to variant rs80359816dbSNPEnsembl.1
Natural variantiVAR_054758130G → S in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 PublicationsCorresponds to variant rs80359819dbSNPEnsembl.1
Natural variantiVAR_013284146E → K in GLUT1DS1. 2 PublicationsCorresponds to variant rs80359820dbSNPEnsembl.1
Natural variantiVAR_076229149P → A in EIG12; unknown pathological significance. 1 Publication1
Natural variantiVAR_054759153R → C in GLUT1DS1; 44% of wild-type glucose uptake activity. 2 Publications1
Natural variantiVAR_065210153R → H in GLUT1DS2. 1 PublicationCorresponds to variant rs794727642dbSNPEnsembl.1
Natural variantiVAR_065211155A → V in GLUT1DS1. 1 Publication1
Natural variantiVAR_065212165V → I in GLUT1DS2. 1 Publication1
Natural variantiVAR_054760169Missing in GLUT1DS1; 48% of wild-type glucose uptake activity. 1 Publication1
Natural variantiVAR_065213212R → C in GLUT1DS1 and DYT9. 2 PublicationsCorresponds to variant rs387907312dbSNPEnsembl.1
Natural variantiVAR_065214212R → H in GLUT1DS1. 1 Publication1
Natural variantiVAR_076230218R → S in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_065215223R → P in EIG12; mild phenotype; reduced transporter activity. 2 PublicationsCorresponds to variant rs397514564dbSNPEnsembl.1
Natural variantiVAR_076231223R → Q in EIG12; unknown pathological significance; no effect on glucose transport. 1 PublicationCorresponds to variant rs397514564dbSNPEnsembl.1
Natural variantiVAR_065216223R → W in GLUT1DS1. 1 PublicationCorresponds to variant rs796053248dbSNPEnsembl.1
Natural variantiVAR_069078232R → C in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type. 1 PublicationCorresponds to variant rs387907313dbSNPEnsembl.1
Natural variantiVAR_076232243E → V in EIG12; decreased glucose transport. 1 Publication1
Natural variantiVAR_013185256K → E in GLUT1DS1; compound heterozygote with L-126. 1 PublicationCorresponds to variant rs121909738dbSNPEnsembl.1
Natural variantiVAR_054761275A → T in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 1 PublicationCorresponds to variant rs121909740dbSNPEnsembl.1
Natural variantiVAR_054762282 – 285Missing 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. 1 Publication4
Natural variantiVAR_076233286G → D in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage. 2 Publications1
Natural variantiVAR_069079292Y → YY in GLUT1DS1. 1 Publication1
Natural variantiVAR_065784294S → P in GLUT1DS2. 1 Publication1
Natural variantiVAR_054763295T → M in GLUT1DS1; 75% of wild-type glucose uptake activity. 2 PublicationsCorresponds to variant rs80359823dbSNPEnsembl.1
Natural variantiVAR_065217303V → L Found in a patient with GLUT1 deficiency syndrome. 1 Publication1
Natural variantiVAR_013285310T → I in GLUT1DS1. 1 PublicationCorresponds to variant rs80359824dbSNPEnsembl.1
Natural variantiVAR_054764314G → S in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability. 2 PublicationsCorresponds to variant rs121909739dbSNPEnsembl.1
Natural variantiVAR_065218317N → T in GLUT1DS2. 1 Publication1
Natural variantiVAR_065219324S → L in GLUT1DS2; mild phenotype; reduced transporter activity. 2 PublicationsCorresponds to variant rs796053253dbSNPEnsembl.1
Natural variantiVAR_065220329E → Q in GLUT1DS1; stabilizes the inward-open conformation. 1 Publication1
Natural variantiVAR_065221333R → Q in GLUT1DS1 and GLUT1DS2. 2 Publications1
Natural variantiVAR_013286333R → W in GLUT1DS1; 43% of wild-type glucose uptake activity. 3 PublicationsCorresponds to variant rs80359825dbSNPEnsembl.1
Natural variantiVAR_065222382G → D in GLUT1DS1. 1 Publication1
Natural variantiVAR_065223405A → D in GLUT1DS1. 1 Publication1
Natural variantiVAR_076234411N → S in EIG12; decreased glucose transport. 1 PublicationCorresponds to variant rs398123069dbSNPEnsembl.1
Natural variantiVAR_076235435Missing in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage. 2 Publications1
Natural variantiVAR_076236458R → W in EIG12; decreased glucose transport. 1 PublicationCorresponds to variant rs13306758dbSNPEnsembl.1
Natural variantiVAR_069080468R → W in GLUT1DS1. 1 PublicationCorresponds to variant rs267607059dbSNPEnsembl.1
Natural variantiVAR_065224485P → L in GLUT1DS1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Cross-referencesi

Web resourcesi

Wikipedia

GLUT1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SUKmodel-A1-492[»]
4PYPX-ray3.17A1-492[»]
5EQGX-ray2.90A1-492[»]
5EQHX-ray2.99A1-492[»]
5EQIX-ray3.00A1-492[»]
ProteinModelPortaliP11166.
SMRiP11166.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112404. 25 interactors.
DIPiDIP-23N.
IntActiP11166. 25 interactors.
MINTiMINT-1386229.
STRINGi9606.ENSP00000416293.

Chemistry databases

BindingDBiP11166.
ChEMBLiCHEMBL2535.
DrugBankiDB00292. Etomidate.
GuidetoPHARMACOLOGYi875.

Protein family/group databases

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

PTM databases

iPTMnetiP11166.
PhosphoSitePlusiP11166.
SwissPalmiP11166.
UniCarbKBiP11166.

Polymorphism and mutation databases

BioMutaiSLC2A1.
DMDMi115502394.

Proteomic databases

EPDiP11166.
MaxQBiP11166.
PaxDbiP11166.
PeptideAtlasiP11166.
PRIDEiP11166.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000426263; ENSP00000416293; ENSG00000117394.
GeneIDi6513.
KEGGihsa:6513.
UCSCiuc001cik.3. human.

Organism-specific databases

CTDi6513.
DisGeNETi6513.
GeneCardsiSLC2A1.
GeneReviewsiSLC2A1.
HGNCiHGNC:11005. SLC2A1.
HPAiCAB002759.
HPA031345.
HPA058494.
MalaCardsiSLC2A1.
MIMi138140. gene.
601042. phenotype.
606777. phenotype.
608885. phenotype.
612126. phenotype.
614847. phenotype.
neXtProtiNX_P11166.
OpenTargetsiENSG00000117394.
Orphaneti64280. Childhood absence epilepsy.
71277. Encephalopathy due to GLUT1 deficiency.
168577. Hereditary cryohydrocytosis with reduced stomatin.
53583. Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
98811. Paroxysmal exertion-induced dyskinesia.
PharmGKBiPA35875.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0569. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00760000119022.
HOVERGENiHBG014816.
InParanoidiP11166.
KOiK07299.
OMAiMLMMNLL.
OrthoDBiEOG091G0A9K.
PhylomeDBiP11166.
TreeFamiTF313762.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117394-MONOMER.
ReactomeiR-HSA-196836. Vitamin C (ascorbate) metabolism.
R-HSA-422356. Regulation of insulin secretion.
R-HSA-428790. Facilitative Na+-independent glucose transporters.
R-HSA-5653890. Lactose synthesis.
R-HSA-70153. Glucose transport.
SIGNORiP11166.

Miscellaneous databases

ChiTaRSiSLC2A1. human.
GeneWikiiGLUT1.
GenomeRNAii6513.
PROiP11166.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117394.
CleanExiHS_SLC2A1.
ExpressionAtlasiP11166. baseline and differential.
GenevisibleiP11166. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR002439. Glu_transpt_1.
IPR020846. MFS_dom.
IPR005828. MFS_sugar_transport-like.
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]
ProtoNetiSearch...

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: November 30, 2016
This is version 203 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.