SLC2A1
Protein name:
GLUT1
Aliases:
N/D
Substrates:
glucose, galactose, mannose, glucosamine
Transport type:
Facilitated transporter
Tissue and cellular expression:
erythrocytes, brain, blood-brain barrier, blood-tissue barrier, many fetal tissues
Subcellular expression:
N/D
Disease:
paroxysmal exertion-induced dyskinesia, dystonia-18, Glut1 deficiency syndrome
Locus:
1p35-31.3
Sequence ID:
NP_006507.2,
NM_006516.2
Gene ID:
6513
Splice variants:
N/D
GTR1_HUMAN (UniProt)
Gene names:
SLC2A1, GLUT1
Protein names and data:
GTR1_HUMAN, Full=Solute carrier family 2, facilitated glucose transporter member 1, Full=Glucose transporter type 1, erythrocyte/brain;Short=GLUT-1;Full=HepG2 glucose transporter;
Length: 492 a.a., Mass: 54084 Da,
fasta formatted sequence
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
Disease:
(OMIM:
138140 606777 612126)
Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]; also known as blood-brain barrier glucose transport defect. 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; Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 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
Cellular location:
Cell membrane; Multi-pass membrane protein (By similarity). Melanosome. Note=Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV
Tissue specificity:
Expressed at variable levels in many human tissues
Database cross-references
UniProt:
P11166
NextBio:
25327
OMIM:
138140
606777
612126
Ensembl:
ENST00000426263
GeneCard:
GC01M042925
TCDB:
2.A.1.1.28
PharmGenUCSF:
SLC2A1
Guide to Pharmacology:
SLC2A1 (875)
Class I transporters (875)
HGNC:
HGNC:11005
Genetic variants
See also Ensembl:ENST00000426263
34 - 34
N -> I (in GLUT1DS1). VAR_054755
34 - 34
N -> S (in GLUT1DS1; 55% of wild-type glucose uptake activity). VAR_054756
34 - 34
N -> Y (in GLUT1DS1). VAR_065206
66 - 66
S -> F (in GLUT1DS1). VAR_013283
91 - 91
G -> D (in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D- glucose). VAR_013182
93 - 93
R -> W (in GLUT1DS2). VAR_065207
95 - 95
S -> I (in GLUT1DS2). VAR_065208
96 - 96
M -> V (in GLUT1DS1). VAR_065209
126 - 126
R -> C (in GLUT1DS1 and GLUT1DS2; reduced transporter activity). VAR_054757
126 - 126
R -> H (in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D- glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity). VAR_013183
126 - 126
R -> L (in GLUT1DS1; compound heterozygote with V-256). VAR_013184
130 - 130
G -> S (in GLUT1DS1; 75% of wild-type glucose uptake activity). VAR_054758
146 - 146
E -> K (in GLUT1DS1). VAR_013284
153 - 153
R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity). VAR_054759
153 - 153
R -> H (in GLUT1DS2). VAR_065210
155 - 155
A -> V (in GLUT1DS1). VAR_065211
165 - 165
V -> I (in GLUT1DS2). VAR_065212
169 - 169
Missing (in GLUT1DS1; 48% of wild-type glucose uptake activity). VAR_054760
212 - 212
R -> C (in GLUT1DS1). VAR_065213
212 - 212
R -> H (in GLUT1DS1). VAR_065214
223 - 223
R -> P (in GLUT1DS1 and GLUT1DS2; mild phenotype; reduced transporter activity). VAR_065215
223 - 223
R -> W (in GLUT1DS1). VAR_065216
256 - 256
K -> E (in GLUT1DS1; compound heterozygote with L-126). VAR_013185
275 - 275
A -> T (in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability). VAR_054761
282 - 285
Missing (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
294 - 294
S -> P (in GLUT1DS2). VAR_065784
295 - 295
T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity). VAR_054763
303 - 303
V -> L (found in a patient with GLUT1 deficiency syndrome). VAR_065217
310 - 310
T -> I (in GLUT1DS1). VAR_013285
314 - 314
G -> S (in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability). VAR_054764
317 - 317
N -> T (in GLUT1DS2). VAR_065218
324 - 324
S -> L (in GLUT1DS1 and GLUT1DS2; mild phenotype; reduced transporter activity). VAR_065219
329 - 329
E -> Q (in GLUT1DS1). VAR_065220
333 - 333
R -> Q (in GLUT1DS1). VAR_065221
333 - 333
R -> W (in GLUT1DS1; 43% of wild-type glucose uptake activity). VAR_013286
382 - 382
G -> D (in GLUT1DS1). VAR_065222
405 - 405
A -> D (in GLUT1DS1). VAR_065223
485 - 485
P -> L (in GLUT1DS1). VAR_065224