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SLC2A1 solute carrier family 2 member 1 [ Homo sapiens (human) ]

Gene ID: 6513, updated on 6-Dec-2016
Official Symbol
SLC2A1provided by HGNC
Official Full Name
solute carrier family 2 member 1provided by HGNC
Primary source
HGNC:HGNC:11005
See related
Ensembl:ENSG00000117394 MIM:138140; MIM:143090; 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
CSE; PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT-1; SDCHCN; 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]
Orthologs
Location:
1p34.2
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 V1 subunit E1 pseudogene 1 Neighboring gene makorin ring finger protein 8, pseudogene Neighboring gene SLC2A1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 880, pseudogene Neighboring gene family with sequence similarity 183 member A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Stomatin-deficient cryohydrocytosis with neurologic defects
MedGen: C1837206 OMIM: 608885 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-03-24)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of GLUT1 by siRNA in CD4+ T cells inhibits HIV-1 infection under both physiological and atmospheric oxygen conditions PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Cori Cycle, organism-specific biosystem (from WikiPathways)
    Cori Cycle, organism-specific biosystem
    Cori Cycle
  • Facilitative Na+-independent glucose transporters, organism-specific biosystem (from REACTOME)
    Facilitative Na+-independent glucose transporters, organism-specific biosystemTwo gene families are responsible for glucose transport in humans. SLC2 (encoding GLUTs) and SLC5 (encoding SGLTs) families mediate glucose absorption in the small intestine, glucose reabsorption in ...
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • 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...
  • 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...
  • 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 resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • 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...
  • Lactose synthesis, organism-specific biosystem (from REACTOME)
    Lactose synthesis, organism-specific biosystemSynthesis of the disaccharide lactose takes place within the Golgi apparatus of epithelial cells of the lactating mammary gland. The synthesis itself is a single chemical reaction of free glucose and...
  • 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, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • 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 ...
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
    Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
  • 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
  • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
  • 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
dehydroascorbic acid transporter activity EXP
Inferred from Experiment
more info
PubMed 
glucose transmembrane transporter activity EXP
Inferred from Experiment
more info
PubMed 
glucose transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
glucose transmembrane transporter activity TAS
Traceable Author Statement
more info
 
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
 
cellular response to glucose starvation IEA
Inferred from Electronic Annotation
more info
 
dehydroascorbic acid transport IEA
Inferred from Electronic Annotation
more info
 
glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transport TAS
Traceable Author Statement
more info
 
lactose biosynthetic process 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
 
xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
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 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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 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
choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)
glucose transporter type 1, erythrocyte/brain
hepG2 glucose transporter
human T-cell leukemia virus (I and II) receptor
receptor for HTLV-1 and HTLV-2
solute carrier family 2 (facilitated glucose transporter), member 1

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 RefSeqGene

    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 identical proteins and their annotated locations for 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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

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