SLC2A1
entrez
6513
canonical
uniprot
P11166
canonical
ensembl
ENSG00000117394
resolver
ensp
ENSP00000416293
resolver
enst
ENST00000426263
resolver
genesymbol
SLC2A1
resolver
genesymbol_syn
GLUT1
resolver
hgnc
HGNC:11005
resolver
uniprot
A8K9S6
resolver
uniprot
B2R620
resolver
uniprot
D3DPX0
resolver
uniprot
O75535
resolver
uniprot
Q0P512
resolver
uniprot
Q147X2
resolver
uniprot
Q59GX2
resolver
uniprot_entry
GTR1_HUMAN
resolver
uniprot_entry
Q59GX2_HUMAN
resolver
uniprot_sec
A8K9S6
resolver
uniprot_sec
B2R620
resolver
uniprot_sec
D3DPX0
resolver
uniprot_sec
O75535
resolver
uniprot_sec
Q0P512
resolver
uniprot_sec
Q147X2
resolver
activity_regulation
ACTIVITY REGULATION: The uptake of glucose is inhibited by cytochalasin B and Phe-amide core-scaffold inhibitors GLUT-i1 and GLUT-i2 (PubMed:27078104). These inhibitors bind in the central cavity of the inward-open state and overlap the glucose-binding site (PubMed:27078104). Glucose uptake is increased in response to phorbol ester 12-O-tetradecanoylphorbol-13-acetate (TPA) treatment: TPA-induced glucose uptake requires phosphorylation at Ser-226 (PubMed:25982116). Interacts with SMIM43; the interaction may promote SLC2A1-mediated glucose transport to meet the energy needs of mesendoderm differentiation (PubMed:35810171). {ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:27078104, ECO:0000269|PubMed:35810171}.
uniprot
proteins
amino_acid_sequence
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPEELFHPLGADSQV
uniprot
proteins
disease_involvement
DISEASE: 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 intellectual disability. {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, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:30197081}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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 intellectual disability 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 variants affecting the gene represented in this entry.; DISEASE: 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, ECO:0000269|PubMed:25982116}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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, intellectual disability, and movement disorder. {ECO:0000269|PubMed:21791420, ECO:0000269|PubMed:22492876}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity). Required for mesendoderm differentiation (By similarity). {ECO:0000250|UniProtKB:P17809, ECO:0000250|UniProtKB:P46896, ECO:0000269|PubMed:10227690, ECO:0000269|PubMed:10954735, ECO:0000269|PubMed:18245775, ECO:0000269|PubMed:19449892, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:27078104, ECO:0000269|PubMed:32860739}.
uniprot
proteins
mass_dalton
54084
uniprot
proteins
mutagenesis
MUTAGEN 45; /note="N->T: Loss of glycosylation site."; /evidence="ECO:0000269|PubMed:24847886"; MUTAGEN 192; /note="I->C: Strongly decreases glucose transport."; /evidence="ECO:0000269|PubMed:18245775"; MUTAGEN 204; /note="L->C: Abolishes glucose transport."; /evidence="ECO:0000269|PubMed:18245775"; MUTAGEN 205; /note="P->C: Abolishes glucose transport."; /evidence="ECO:0000269|PubMed:18245775"; MUTAGEN 226; /note="S->A: Abolishes phosphorylation by PKA, leading to impaired response to TPA."; /evidence="ECO:0000269|PubMed:25982116"; MUTAGEN 340; /note="G->C: Strongly decreases glucose transport."; /evidence="ECO:0000269|PubMed:19449892
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation.
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization. {ECO:0000269|PubMed:25982116}.
uniprot
proteins
protein_family
Glucose transporter subfamily
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Sugar transporter (TC 2.A.1.1) family
uniprot
proteins
pubmed
10227690
uniprot
proteins
pubmed
10954735
uniprot
proteins
pubmed
10980529
uniprot
proteins
pubmed
11136715
uniprot
proteins
pubmed
11603379
uniprot
proteins
pubmed
12325075
uniprot
proteins
pubmed
14605501
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15622525
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18245775
uniprot
proteins
pubmed
18347014
uniprot
proteins
pubmed
18451999
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19449892
uniprot
proteins
pubmed
19630075
uniprot
proteins
pubmed
19798636
uniprot
proteins
pubmed
19901175
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20129935
uniprot
proteins
pubmed
20221955
uniprot
proteins
pubmed
20574033
uniprot
proteins
pubmed
20621801
uniprot
proteins
pubmed
20830593
uniprot
proteins
pubmed
21204808
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21791420
uniprot
proteins
pubmed
21832227
uniprot
proteins
pubmed
22282645
uniprot
proteins
pubmed
22492876
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23219802
uniprot
proteins
pubmed
23280796
uniprot
proteins
pubmed
23563491
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24847886
uniprot
proteins
pubmed
25957687
uniprot
proteins
pubmed
25982116
uniprot
proteins
pubmed
27078104
uniprot
proteins
pubmed
2834252
uniprot
proteins
pubmed
30197081
uniprot
proteins
pubmed
32860739
uniprot
proteins
pubmed
35810171
uniprot
proteins
pubmed
3839598
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18245775, ECO:0000269|PubMed:19449892, ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:24847886, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:30197081}; Multi-pass membrane protein {ECO:0000255}. Melanosome {ECO:0000269|PubMed:17081065}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P17809}. Note=Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:24847886, PubMed:25982116). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:18245775, ECO:0000269|PubMed:19449892, ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:24847886, ECO:0000269|PubMed:25982116}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..33; /note="Helical; Name=1"; TRANSMEM 67..87; /note="Helical; Name=2"; TRANSMEM 91..112; /note="Helical; Name=3"; TRANSMEM 121..144; /note="Helical; Name=4"; TRANSMEM 156..176; /note="Helical; Name=5"; TRANSMEM 186..206; /note="Helical; Name=6"; TRANSMEM 272..293; /note="Helical; Name=7"; TRANSMEM 307..328; /note="Helical; Name=8"; TRANSMEM 335..355; /note="Helical; Name=9"; TRANSMEM 366..388; /note="Helical; Name=10"; TRANSMEM 402..422; /note="Helical; Name=11"; TRANSMEM 430..450; /note="Helical; Name=12
uniprot
proteins