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

Gene ID: 6513, updated on 3-May-2020

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

Genomic context

See SLC2A1 in Genome Data Viewer
Location:
1p34.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42925353..42958868, 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 makorin ring finger protein 8, pseudogene Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 1 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

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

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

Function Evidence Code Pubs
D-glucose transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
dehydroascorbic acid transmembrane 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 transmembrane 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 hyperosmotic response IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
dehydroascorbic acid transport IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose transmembrane transport TAS
Traceable Author Statement
more info
 
lactose biosynthetic process TAS
Traceable Author Statement
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of glucose transmembrane transport TAS
Traceable Author Statement
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
response to Thyroglobulin triiodothyronine IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to insulin 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
 
Z disc IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
blood microparticle HDA PubMed 
caveola 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 HDA PubMed 
female pronucleus IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
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
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
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)

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, ENST00000426263.9
    Conserved Domains (1) summary
    pfam00083
    Location:19467
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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