Format

Send to:

Choose Destination

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

Gene ID: 6513, updated on 17-Oct-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
Try the new Gene table
Try the new Transcript table

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 divergent transcript 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)
Support Center