GTR1_HUMAN
Source:
hRBCD
; ID:
IPI00220194
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC2A1
, GLUT1
Protein names and data:
GTR1_HUMAN
, Solute carrier family 2, facilitated glucose transporter member 1
, Glucose transporter type 1, erythrocyte/brain; GLUT-1; HepG2 glucose transporter
Lenght: 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
601042
606777
612126
614847
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry. GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion- induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry. Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Genetic variants
34 - 34
N -> I (in GLUT1DS2). 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
92 - 92
R -> W (in GLUT1DS2). VAR_069077
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, GLUT1DS2 and DYT9; 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 and DYT9). VAR_065213
212 - 212
R -> H (in GLUT1DS1). VAR_065214
223 - 223
R -> P (in EIG12; mild phenotype; reduced transporter activity). VAR_065215
223 - 223
R -> W (in GLUT1DS1). VAR_065216
232 - 232
R -> C (in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type). VAR_069078
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
292 - 292
Y -> YY (in GLUT1DS1). VAR_069079
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 GLUT1DS2; mild phenotype; reduced transporter activity). VAR_065219
329 - 329
E -> Q (in GLUT1DS1). VAR_065220
333 - 333
R -> Q (in GLUT1DS1 and GLUT1DS2). 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
468 - 468
R -> W (in GLUT1DS1). VAR_069080
485 - 485
P -> L (in GLUT1DS1). VAR_065224
Database cross-references
UniProt:
P11166
Ensembl:
ENST00000426263
MIM:
138140
MIM:
601042
MIM:
606777
MIM:
612126
MIM:
614847
neXtProt:
NX_P11166
Antibodypedia:
P11166
(may not find the protein thus also not any antibody)
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