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P11166

- GTR1_HUMAN

UniProt

P11166 - GTR1_HUMAN

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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

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 self-association Source: UniProtKB
  6. 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
Complete GO annotation...

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. membrane Source: ProtInc
  10. midbody Source: UniProtKB
  11. plasma membrane Source: Reactome
Complete GO annotation...

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. 1 Publication
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.
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

BgeeiP11166.
CleanExiHS_SLC2A1.
ExpressionAtlasiP11166. baseline and differential.
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 9-455.
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.
GeneTreeiENSGT00760000119022.
HOVERGENiHBG014816.
InParanoidiP11166.
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

        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)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. 1 Publication
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 9-455.
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.
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.
GeneTreei ENSGT00760000119022.
HOVERGENi HBG014816.
InParanoidi P11166.
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

Bgeei P11166.
CleanExi HS_SLC2A1.
ExpressionAtlasi P11166. baseline and differential.
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

« Hide 'large scale' publications
  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 510:121-125(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 29, 2014
This is version 180 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