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

    Gene ID: 6513, updated on 26-Jul-2021

    Summary

    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
    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]
    Expression
    Biased expression in placenta (RPKM 289.6), skin (RPKM 60.0) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC2A1 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42925353..42958868, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43391024..43424539, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene makorin ring finger protein 8, pseudogene Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 1 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 4 Neighboring gene SLC2A1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 880, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dystonia 9 Compare labs
    Epilepsy, idiopathic generalized, susceptibility to, 12
    MedGen: C3553859 OMIM: 614847 GeneReviews: Not available
    Compare labs
    GLUT1 deficiency syndrome 1 Compare labs
    GLUT1 deficiency syndrome 2 Compare labs
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    GeneReviews: Not available
    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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC141895, MGC141896

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in L-ascorbic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in cellular hyperosmotic response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dehydroascorbic acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in glucose import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucose transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in long-chain fatty acid import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to Thyroglobulin triiodothyronine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport across blood-brain barrier IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within transport across blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transport across blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in blood microparticle HDA PubMed 
    located_in caveola IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in female pronucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5309..38802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1132

    mRNA and Protein(s)

    1. NM_006516.4NP_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, AC099795, AF070544, AW137914, BG682043, BI490999, BQ948542
      Consensus CDS
      CCDS477.1
      UniProtKB/Swiss-Prot
      P11166
      UniProtKB/TrEMBL
      Q59GX2
      Related
      ENSP00000416293.2, ENST00000426263.10
      Conserved Domains (1) summary
      cd17431
      Location:14458
      MFS_GLUT_Class1; Class 1 Glucose transporters (GLUTs) of the Major Facilitator Superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      42925353..42958868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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