Details for: SLC2A1

Gene ID: 6513

Symbol: SLC2A1

Ensembl ID: ENSG00000117394

Description: solute carrier family 2 member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 91.5853
    Cell Significance Index: -23.2300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 60.6388
    Cell Significance Index: -24.9800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 51.7776
    Cell Significance Index: -21.0400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 38.4935
    Cell Significance Index: -25.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.0164
    Cell Significance Index: -21.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 14.1363
    Cell Significance Index: 377.4600
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 13.8866
    Cell Significance Index: -2.1600
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 9.6200
    Cell Significance Index: 28.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.6511
    Cell Significance Index: -23.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 7.5244
    Cell Significance Index: 102.6600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.1783
    Cell Significance Index: -24.3800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 5.7352
    Cell Significance Index: 12.9300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 5.5720
    Cell Significance Index: -6.8700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 5.3947
    Cell Significance Index: 280.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.3853
    Cell Significance Index: 90.7100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.0179
    Cell Significance Index: -6.6100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 2.8209
    Cell Significance Index: 24.2400
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.7312
    Cell Significance Index: 16.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.1167
    Cell Significance Index: 118.7800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.3572
    Cell Significance Index: 19.3200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2289
    Cell Significance Index: 671.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1654
    Cell Significance Index: 143.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.1619
    Cell Significance Index: 2187.8000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0927
    Cell Significance Index: 29.7400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0759
    Cell Significance Index: 193.9500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 1.0146
    Cell Significance Index: 6.1300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.6511
    Cell Significance Index: 9.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6339
    Cell Significance Index: 572.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6118
    Cell Significance Index: 27.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.6021
    Cell Significance Index: 42.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5827
    Cell Significance Index: 257.6400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.5631
    Cell Significance Index: 4.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5627
    Cell Significance Index: 111.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5550
    Cell Significance Index: 15.5100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.5254
    Cell Significance Index: 714.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5182
    Cell Significance Index: 31.1100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.5111
    Cell Significance Index: 5.4300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4890
    Cell Significance Index: 53.1900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4257
    Cell Significance Index: 3.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.4147
    Cell Significance Index: 638.4500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4132
    Cell Significance Index: 67.2000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3395
    Cell Significance Index: 5.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3283
    Cell Significance Index: 9.4600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3036
    Cell Significance Index: 57.7800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3036
    Cell Significance Index: 15.9400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2977
    Cell Significance Index: 189.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2626
    Cell Significance Index: 5.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2430
    Cell Significance Index: 448.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2271
    Cell Significance Index: 16.9300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2209
    Cell Significance Index: 3.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2156
    Cell Significance Index: 21.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2075
    Cell Significance Index: 14.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2016
    Cell Significance Index: 5.0400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1962
    Cell Significance Index: 9.2200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1518
    Cell Significance Index: 9.5700
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 0.1390
    Cell Significance Index: 0.7900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1060
    Cell Significance Index: 2.4500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0935
    Cell Significance Index: 18.7500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0791
    Cell Significance Index: 0.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0703
    Cell Significance Index: 9.0900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.0624
    Cell Significance Index: 0.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0491
    Cell Significance Index: 17.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0450
    Cell Significance Index: 1.5800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0410
    Cell Significance Index: 5.6300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0395
    Cell Significance Index: 1.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0286
    Cell Significance Index: 12.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0132
    Cell Significance Index: 9.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0072
    Cell Significance Index: 1.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0028
    Cell Significance Index: 0.3600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0014
    Cell Significance Index: 0.0300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.0016
    Cell Significance Index: -0.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0090
    Cell Significance Index: -5.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0123
    Cell Significance Index: -9.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0166
    Cell Significance Index: -12.1500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0274
    Cell Significance Index: -1.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0303
    Cell Significance Index: -22.9600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0320
    Cell Significance Index: -18.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0381
    Cell Significance Index: -6.5000
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0400
    Cell Significance Index: -0.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0533
    Cell Significance Index: -5.5500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0535
    Cell Significance Index: -11.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0540
    Cell Significance Index: -5.5100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0641
    Cell Significance Index: -18.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0651
    Cell Significance Index: -7.6800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0735
    Cell Significance Index: -1.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1001
    Cell Significance Index: -11.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1002
    Cell Significance Index: -4.6700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1057
    Cell Significance Index: -12.0600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1058
    Cell Significance Index: -12.3300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1140
    Cell Significance Index: -3.9600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1300
    Cell Significance Index: -9.9800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1658
    Cell Significance Index: -4.3600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1802
    Cell Significance Index: -3.0200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2418
    Cell Significance Index: -14.8300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2428
    Cell Significance Index: -9.9500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2504
    Cell Significance Index: -12.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2733
    Cell Significance Index: -16.8000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2740
    Cell Significance Index: -14.2700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SLC2A1 gene is a transmembrane protein that belongs to the solute carrier family 2. It is expressed in various tissues, including the brain, liver, and placenta. The protein is able to facilitate the transport of glucose across the plasma membrane, regulating glucose uptake and metabolism in cells. SLC2A1 is also involved in the transport of other small molecules, such as lactose and dehydroascorbic acid. **Pathways and Functions** The SLC2A1 gene is involved in several cellular pathways, including: 1. Cellular hexose transport: SLC2A1 plays a crucial role in regulating glucose uptake in cells, particularly in the brain and liver. 2. Cellular hyperosmotic response: SLC2A1 helps to regulate the transport of small molecules in response to changes in cellular osmolarity. 3. Cellular response to glucose starvation: SLC2A1 is involved in the regulation of glucose metabolism in response to glucose deprivation. 4. Central nervous system development: SLC2A1 is essential for the development and function of the central nervous system. 5. Cerebral cortex development: SLC2A1 plays a role in the development and maturation of the cerebral cortex. **Clinical Significance** Mutations in the SLC2A1 gene have been associated with Glut1 Deficiency Syndrome 1 (Glut1ds1), a rare genetic disorder characterized by: 1. Impaired glucose uptake and energy metabolism 2. Developmental delays and intellectual disability 3. Seizures and other neurological symptoms 4. Increased risk of infections and other complications SLC2A1 is also expressed in the placenta, where it plays a crucial role in regulating glucose transfer from the mother to the fetus. Mutations in the SLC2A1 gene have been associated with placental insufficiency and fetal growth restriction. In conclusion, the SLC2A1 gene plays a critical role in regulating glucose metabolism and energy metabolism in various cells and tissues. Mutations in the SLC2A1 gene have been associated with Glut1 Deficiency Syndrome 1, a rare genetic disorder characterized by impaired glucose uptake and energy metabolism. Further research is needed to fully understand the clinical significance of SLC2A1 and its role in human health and disease.

Genular Protein ID: 4196089677

Symbol: GTR1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P11166 A8K9S6 B2R620 D3DPX0 O75535 Q0P512 Q147X2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTAC 3 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 11 DrugCentral 1 EMBL 9 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3839598

Title: Sequence and structure of a human glucose transporter.

PubMed ID: 3839598

DOI: 10.1126/science.3839598

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2834252

Title: Characterization and expression of human HepG2/erythrocyte glucose-transporter gene.

PubMed ID: 2834252

DOI: 10.2337/diab.37.5.657

PubMed ID: 10954735

Title: Hexose permeation pathways in Plasmodium falciparum-infected erythrocytes.

PubMed ID: 10954735

DOI: 10.1073/pnas.170153097

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 18245775

Title: Transmembrane segment 6 of the Glut1 glucose transporter is an outer helix and contains amino acid side chains essential for transport activity.

PubMed ID: 18245775

DOI: 10.1074/jbc.m708896200

PubMed ID: 18347014

Title: Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1.

PubMed ID: 18347014

DOI: 10.1074/jbc.m707818200

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19449892

Title: Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis.

PubMed ID: 19449892

DOI: 10.1021/bi900521n

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

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PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

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PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23219802

Title: Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.

PubMed ID: 23219802

DOI: 10.1016/j.bbamem.2012.11.030

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23563491

Title: A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport.

PubMed ID: 23563491

DOI: 10.1038/ncb2721

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25957687

Title: Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.

PubMed ID: 25957687

DOI: 10.1016/j.cell.2015.03.023

PubMed ID: 25982116

Title: A protein kinase C phosphorylation motif in GLUT1 affects glucose transport and is mutated in GLUT1 deficiency syndrome.

PubMed ID: 25982116

DOI: 10.1016/j.molcel.2015.04.015

PubMed ID: 32860739

Title: Structural Basis for Blocking Sugar Uptake into the Malaria Parasite Plasmodium falciparum.

PubMed ID: 32860739

DOI: 10.1016/j.cell.2020.08.015

PubMed ID: 35810171

Title: A Nodal enhanced micropeptide NEMEP regulates glucose uptake during mesendoderm differentiation of embryonic stem cells.

PubMed ID: 35810171

DOI: 10.1038/s41467-022-31762-x

PubMed ID: 24847886

Title: Crystal structure of the human glucose transporter GLUT1.

PubMed ID: 24847886

DOI: 10.1038/nature13306

PubMed ID: 27078104

Title: Mechanism of inhibition of human glucose transporter GLUT1 is conserved between cytochalasin B and phenylalanine amides.

PubMed ID: 27078104

DOI: 10.1073/pnas.1603735113

PubMed ID: 10227690

Title: Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.

PubMed ID: 10227690

DOI: 10.1023/a:1022544131826

PubMed ID: 10980529

Title: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

PubMed ID: 10980529

DOI: 10.1002/1098-1004(200009)16:3<224::aid-humu5>3.0.co;2-p

PubMed ID: 11603379

Title: Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy.

PubMed ID: 11603379

DOI: 10.1002/ana.1222

PubMed ID: 11136715

Title: Autosomal dominant transmission of GLUT1 deficiency.

PubMed ID: 11136715

DOI: 10.1093/hmg/10.1.63

PubMed ID: 12325075

Title: Imaging the metabolic footprint of Glut1 deficiency on the brain.

PubMed ID: 12325075

DOI: 10.1002/ana.10311

PubMed ID: 14605501

Title: GLUT-1 deficiency without epilepsy -- an exceptional case.

PubMed ID: 14605501

DOI: 10.1023/a:1025999914822

PubMed ID: 15622525

Title: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

PubMed ID: 15622525

DOI: 10.1002/ana.20331

PubMed ID: 18451999

Title: GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

PubMed ID: 18451999

DOI: 10.1172/jci34438

PubMed ID: 19798636

Title: Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PubMed ID: 19798636

DOI: 10.1002/ana.21724

PubMed ID: 19901175

Title: Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.

PubMed ID: 19901175

DOI: 10.1001/archneurol.2009.236

PubMed ID: 19630075

Title: GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

PubMed ID: 19630075

DOI: 10.1002/mds.22507

PubMed ID: 20221955

Title: Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PubMed ID: 20221955

DOI: 10.1055/s-0030-1248264

PubMed ID: 20129935

Title: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PubMed ID: 20129935

DOI: 10.1093/brain/awp336

PubMed ID: 21204808

Title: Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

PubMed ID: 21204808

DOI: 10.1111/j.1528-1167.2010.02726.x

PubMed ID: 20621801

Title: Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

PubMed ID: 20621801

DOI: 10.1016/j.jns.2010.05.017

PubMed ID: 20574033

Title: Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

PubMed ID: 20574033

DOI: 10.1212/wnl.0b013e3181eb58b4

PubMed ID: 21791420

Title: Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PubMed ID: 21791420

DOI: 10.1182/blood-2010-12-326645

PubMed ID: 20830593

Title: Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

PubMed ID: 20830593

DOI: 10.1007/s00415-010-5702-5

PubMed ID: 21832227

Title: Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PubMed ID: 21832227

DOI: 10.1212/wnl.0b013e31822e0479

PubMed ID: 23280796

Title: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PubMed ID: 23280796

DOI: 10.1002/ana.23702

PubMed ID: 22492876

Title: An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PubMed ID: 22492876

DOI: 10.1210/jc.2012-1399

PubMed ID: 22282645

Title: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

PubMed ID: 22282645

DOI: 10.1212/wnl.0b013e318247ff54

PubMed ID: 30197081

Title: Mutations in disordered regions can cause disease by creating dileucine motifs.

PubMed ID: 30197081

DOI: 10.1016/j.cell.2018.08.019

Sequence Information:

  • Length: 492
  • Mass: 54084
  • Checksum: E71E1C6BD1B00B1E
  • Sequence:
    • MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH RYGESILPTT 
LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN LLAFVSAVLM GFSKLGKSFE 
MLILGRFIIG VYCGLTTGFV PMYVGEVSPT ALRGALGTLH QLGIVVGILI AQVFGLDSIM 
GNKDLWPLLL SIIFIPALLQ CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD 
LQEMKEESRQ MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK 
AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL MTIALALLEQ 
LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR PAAIAVAGFS NWTSNFIVGM 
CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF KVPETKGRTF DEIASGFRQG GASQSDKTPE 
ELFHPLGADS QV

Genular Protein ID: 3480551254

Symbol: Q59GX2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59GX2

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 7 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 4 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 Rhea 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 517
  • Mass: 57018
  • Checksum: 0A15C476A80ABF02
  • Sequence:
    • AGERRSHARR HPRTRRSQSH QRSAAMEPSS KKLTGRLMLA VGGAVLGSLQ FGYNTGVINA 
PQKVIEEFYN QTWVHRYGES ILPTTLTTLW SLSVAIFSVG GMIGSFSVGL FVNRFGRRNS 
MLMMNLLAFV SAVLMGFSKL GKSFEMLILG RFIIGVYCGL TTGFVPMYVG EVSPTALRGA 
LGTLHQLGIV VGILIAQVFG LDSIMGNKDL WPLLLSIIFI PALLQCIVLP FCPESPRFLL 
INRNEENRAK SVLKKLRGTA DVTHDLQEMK EESRQMMREK KVTILELFRS PAYRQPILIA 
VVLQLSQQLS GINAVFYYST SIFEKAGVQQ PVYATIGSGI VNTAFTVVSL FVVERAGRRT 
LHLIGLAGMA GCAILMTIAL ALLEQLPWMS YLSIVAIFGF VAFFEVGPGP IPWFIVAELF 
SQGPRPAAIA VAGFSNWTSN FIVGMCFQYV EQLCGPYVFI IFTVLLVLFF IFTYFKVPET 
KGRTFDEIAS GFRQGGASQS DKTPEELFHP LGADSQV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.