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

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; AllianceGenome:HGNC:11005
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p34.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (42925353..42958868, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (42795821..42829338, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (43391024..43424539, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated GLUT1 results in the pathogenesis of preeclampsia by impairing the function of trophoblast cells.
Title: Dysregulated GLUT1 results in the pathogenesis of preeclampsia by impairing the function of trophoblast cells.
Human umbilical cord mesenchymal stem cell-derived exosomal miR-214-3p regulates the progression of gallbladder cancer by regulating ACLY/GLUT1.
Title: Human umbilical cord mesenchymal stem cell-derived exosomal miR-214-3p regulates the progression of gallbladder cancer by regulating ACLY/GLUT1.
Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.
Title: Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.
Title: Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.
Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation.
Title: Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation.
PURA and GLUT1: Sweet partners for brain health.
Title: PURA and GLUT1: Sweet partners for brain health.
GLUT1 promotes cell proliferation via binds and stabilizes phosphorylated EGFR in lung adenocarcinoma.
Title: GLUT1 promotes cell proliferation via binds and stabilizes phosphorylated EGFR in lung adenocarcinoma.
HNRNPC Regulates GLUT1/LDHA Pathway by Stabilizing FOXM1 mRNA to Promote the Progression and Aerobic Glycolysis of Multiple Myeloma.
Title: HNRNPC Regulates GLUT1/LDHA Pathway by Stabilizing FOXM1 mRNA to Promote the Progression and Aerobic Glycolysis of Multiple Myeloma.
Inhibition of glycolysis and SIRT1/GLUT1 signaling ameliorates the apoptotic effect of Leptosidin in prostate cancer cells.
Title: Inhibition of glycolysis and SIRT1/GLUT1 signaling ameliorates the apoptotic effect of Leptosidin in prostate cancer cells.
Gene expression of protein kinase AMP-activated catalytic subunit alpha 1 (PRKAA1), solute carrier family 2 member 1 (SLC2A1) and mechanistic target of rapamycin (MTOR) in metformin-treated type 2 diabetes patients with COVID-19: impact on inflammation markers.
Title: Gene expression of protein kinase AMP-activated catalytic subunit alpha 1 (PRKAA1), solute carrier family 2 member 1 (SLC2A1) and mechanistic target of rapamycin (MTOR) in metformin-treated type 2 diabetes patients with COVID-19: impact on inflammation markers.

Submit: New GeneRIF Correction See all GeneRIFs (609)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Childhood onset GLUT1 deficiency syndrome 2 MedGen: C1842534 OMIM: 612126 GeneReviews: Glucose Transporter Type 1 Deficiency Syndrome	not available
Dystonia 9 MedGen: C1832855 OMIM: 601042 GeneReviews: Glucose Transporter Type 1 Deficiency Syndrome	not available
Encephalopathy due to GLUT1 deficiency MedGen: C4551966 OMIM: 606777 GeneReviews: Glucose Transporter Type 1 Deficiency Syndrome	not available
Epilepsy, idiopathic generalized, susceptibility to, 12 MedGen: C3553859 OMIM: 614847 GeneReviews: Not available	not available
Hereditary cryohydrocytosis with reduced stomatin MedGen: C1837206 OMIM: 608885 GeneReviews: Not available	not available

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

EBI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH101947 (e-PCR)
- UniSTS:96282

SHGC-74680 (e-PCR)
- UniSTS:45618

SLC2A1 (e-PCR)
- UniSTS:254005

RH11019 (e-PCR)
- UniSTS:5180

G09541 (e-PCR)
- UniSTS:24971

WI-15743 (e-PCR)
- UniSTS:60044

RH68258 (e-PCR)
- UniSTS:81833

RH68980 (e-PCR)
- UniSTS:48816

RH91471 (e-PCR)
- UniSTS:92606

SLC2A1_1316 (e-PCR)
- UniSTS:277744

SLC2A1_v406 (e-PCR)
- UniSTS:277744

SHGC-2652 (e-PCR)
- UniSTS:10481

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-glucose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables D-glucose transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables D-glucose transmembrane transporter activity	TAS Traceable Author Statement more info
enables dehydroascorbic acid transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables long-chain fatty acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables xenobiotic transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in D-glucose import	IBA Inferred from Biological aspect of Ancestor more info
involved_in D-glucose import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in D-glucose import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in D-glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in D-glucose transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor 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
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor 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
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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 more info	PubMed
located_in female germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in female pronucleus	IEA Inferred from Electronic Annotation more info
part_of glucose transporter complex	IPI Inferred from Physical Interaction 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 membrane	RCA inferred from Reviewed Computational Analysis 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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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

Go to the top of the page Help

Preferred Names: solute carrier family 2, facilitated glucose transporter member 1

Names: choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity); dystonia gene 18; dystonia gene 9; 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)

Go to the top of the page Help

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.