Display Settings:

Format

Send to:

Choose Destination

SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 [ Homo sapiens (human) ]

Gene ID: 6513, updated on 29-Sep-2014
Official Symbol
SLC2A1provided by HGNC
Official Full Name
solute carrier family 2 (facilitated glucose transporter), member 1provided by HGNC
Primary source
HGNC:HGNC:11005
See related
Ensembl:ENSG00000117394; HPRD:00683; MIM:138140; Vega:OTTHUMG00000007657
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT1DS
Summary
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
See SLC2A1 in Epigenomics, MapViewer
Location:
1p34.2
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (42925375..42959176, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43391046..43424847, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1 Neighboring gene makorin ring finger protein 8, pseudogene Neighboring gene SLC2A1 antisense RNA 1 Neighboring gene family with sequence similarity 183, member A Neighboring gene EBNA1 binding protein 2 Neighboring gene microRNA 6733

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
    Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
    Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were du...
  • Defective BTD causes biotidinase deficiency, organism-specific biosystem (from REACTOME)
    Defective BTD causes biotidinase deficiency, organism-specific biosystemBTD deficiency is an autosomal recessive disorder in which the body is unable to recycle and reuse biotin (Btn). This results in a secondary Btn deficiency that leads to juvenile-onset multiple carbo...
  • Defective CD320 causes methylmalonic aciduria, organism-specific biosystem (from REACTOME)
    Defective CD320 causes methylmalonic aciduria, organism-specific biosystemDefects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646) resulting in elevated methylmalonic acid (MMA) and homocysteine (HCYS) in newborns (Quadros et ...
  • Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et...
  • Defective GIF causes intrinsic factor deficiency, organism-specific biosystem (from REACTOME)
    Defective GIF causes intrinsic factor deficiency, organism-specific biosystemDefects in GIF cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia (Tanner e...
  • Defective HLCS causes multiple carboxylase deficiency, organism-specific biosystem (from REACTOME)
    Defective HLCS causes multiple carboxylase deficiency, organism-specific biosystemDefects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka early onset multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby ...
  • Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF, organism-specific biosystem (from REACTOME)
    Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF, organism-specific biosystemDefects in LMBRD1 cause methylmalonic aciduria and homocystinuria type cblF (MMAHCF; MIM:277380), characterised biochemically by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methy...
  • Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystem (from REACTOME)
    Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystemDefects in MMAA cause methylmalonic aciduria type cblA (cblA aka methylmalonic aciduria type A or vitamin B12-responsive methylmalonic aciduria of cblA complementation type; MIM:251100). Affected ind...
  • Defective MMAB causes methylmalonic aciduria type cblB, organism-specific biosystem (from REACTOME)
    Defective MMAB causes methylmalonic aciduria type cblB, organism-specific biosystemDefects in MMAB cause methylmalonic aciduria type cblB (cblB aka methylmalonic aciduria type B or vitamin B12 responsive methylmalonicaciduria of cblB complementation type; MIM:251110). Affected indi...
  • Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC, organism-specific biosystem (from REACTOME)
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC, organism-specific biosystemDefects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels o...
  • Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystem (from REACTOME)
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystemDefects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalam...
  • Defective MTR causes methylmalonic aciduria and homocystinuria type cblG, organism-specific biosystem (from REACTOME)
    Defective MTR causes methylmalonic aciduria and homocystinuria type cblG, organism-specific biosystemDefects in MTR cause methylcobalamin deficiency type G (cblG; MIM:250940), an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria (Leclerc et a...
  • Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE, organism-specific biosystem (from REACTOME)
    Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE, organism-specific biosystemDefects in MTRR cause methylcobalamin deficiency type E (cblE; methionine synthase reductase deficiency; MIM:236270) (Wilson et al. 1999). Patients with cblE exhibit megaloblastic anemia and hyperhom...
  • Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystem (from REACTOME)
    Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystemDefects in MUT cause methylmalonic aciduria, mut type (MMAM; MIM:251000), an often fatal disorder of organic acid metabolism (Worgan et al. 2006).
  • Defective TCN2 causes hereditary megaloblastic anemia, organism-specific biosystem (from REACTOME)
    Defective TCN2 causes hereditary megaloblastic anemia, organism-specific biosystemDefective transcobalamin II (produced by the TCN2 gene) results in TCN2 deficiency (MIM:275350), an autosomal recessive disorder with early-onset in infancy characterized by failure to thrive, megalo...
  • Defects in biotin (Btn) metabolism, organism-specific biosystem (from REACTOME)
    Defects in biotin (Btn) metabolism, organism-specific biosystemBiotin (Btn, vitamin B7, vitamin H, coenzyme R) is an essential cofactor for five biotin-dependent carboxylase enzymes, involved in the synthesis of fatty acids, isoleucine, valine and in gluconeogen...
  • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
    Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
  • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
    Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glucose transport, organism-specific biosystem (from REACTOME)
    Glucose transport, organism-specific biosystemCells take up glucose by facilitated diffusion, via glucose transporters (GLUTs) associated with the plasma membrane, a reversible reaction (Joost and Thorens 2001). Four tissue-specific GLUT isoform...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystem
    Glycolysis and Gluconeogenesis
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-2-alpha transcription factor network, organism-specific biosystem
    HIF-2-alpha transcription factor network
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hexose transport, organism-specific biosystem (from REACTOME)
    Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
  • IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
    Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
    Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
  • Renal cell carcinoma, organism-specific biosystem (from KEGG)
    Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Renal cell carcinoma, conserved biosystem (from KEGG)
    Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional activation, organism-specific biosystem
    Validated targets of C-MYC transcriptional activation
  • Vitamin C (ascorbate) metabolism, organism-specific biosystem (from REACTOME)
    Vitamin C (ascorbate) metabolism, organism-specific biosystemVitamin C (ascorbate) is an antioxidant and a cofactor in reactions catalyzed by Cu+-dependent monooxygenases and Fe++-dependent dioxygenases. Many mammals can synthesize ascorbate de novo; humans an...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC141895, MGC141896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D-glucose transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
dehydroascorbic acid transporter activity IEA
Inferred from Electronic Annotation
more info
 
glucose transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-ascorbic acid metabolic process TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cellular response to glucose starvation IEA
Inferred from Electronic Annotation
more info
 
dehydroascorbic acid transport IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
glucose transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transport TAS
Traceable Author Statement
more info
 
hexose transport TAS
Traceable Author Statement
more info
 
protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
blood microparticle IDA
Inferred from Direct Assay
more info
 
caveola IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
female pronucleus IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
solute carrier family 2, facilitated glucose transporter member 1
Names
solute carrier family 2, facilitated glucose transporter member 1
GLUT-1
hepG2 glucose transporter
glucose transporter type 1, erythrocyte/brain
human T-cell leukemia virus (I and II) receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008232.1 

    Range
    5001..38802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006516.2NP_006507.2  solute carrier family 2, facilitated glucose transporter member 1

    See proteins identical to NP_006507.2

    Status: REVIEWED

    Source sequence(s)
    AB208987, AF070544, AW137914, BG682043, BI490999, BP314853, BQ948542, DA753077
    Consensus CDS
    CCDS477.1
    UniProtKB/Swiss-Prot
    P11166
    UniProtKB/TrEMBL
    Q59GX2
    Related
    ENSP00000416293, OTTHUMP00000009006, ENST00000426263, OTTHUMT00000020358
    Conserved Domains (2) summary
    cd06174
    Location:62450
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam00083
    Location:19467
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    42925375..42959176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    41511000..41544561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    43507796..43541586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)