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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC2A1
solute carrier family 2 member 1
Chromosome 1 Β· 1p34.2
NCBI Gene: 6513Ensembl: ENSG00000117394.25HGNC: HGNC:11005UniProt: P11166
796PubMed Papers
25Diseases
0Drugs
339Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
D-glucose import across plasma membraneD-glucose transmembrane transportlong-chain fatty acid transmembrane transporter activityprotein bindingencephalopathy due to GLUT1 deficiencygeneralised epilepsyParoxysmal exertion-induced dyskinesiadystonia 9
✦AI Summary

SLC2A1 encodes GLUT1, a facilitative glucose transporter responsible for constitutive glucose uptake across cell membranes 12. GLUT1 possesses broad substrate specificity, transporting aldoses including pentoses and hexoses 34. Its most critical physiological role is mediating energy-independent glucose transport across the blood-brain barrier, serving as the brain's primary energy carrier 1. SLC2A1 mutations cause GLUT1 Deficiency Syndrome (GLUT1DS), a treatable neurological disorder characterized by impaired glucose transfer into the central nervous system, with emerging data revealing complex pathomechanisms beyond simple energy depletion 5. SLC2A1 variants are associated with epilepsy and type 2 diabetes with nephropathy 67. In cancer biology, SLC2A1 upregulation drives pathogenic metabolic and immunological changes. METTL3-mediated stabilization of SLC2A1 mRNA promotes colorectal cancer glycolysis and tumorigenesis 8. In lung squamous cell carcinoma, elevated GLUT1 expression associates with worse survival, poor immunotherapy response, and promotes macrophage polarization toward immunosuppressive M2 phenotype 9. Importantly, tumor-associated macrophage-specific SLC2A1 expression spatially excludes CD8+ T cells and drives checkpoint blockade resistance, making TAM-specific SLC2A1 inhibition a promising immunotherapeutic target 10. SLC2A1 also functions in ferroptosis regulation relevant to acute kidney injury 11.

Sources cited
1
GLUT1 responsible for constitutive glucose uptake and glucose transport across blood-brain barrier
PMID: 10227690
2
GLUT1 responsible for basal glucose uptake
PMID: 10954735
3
GLUT1 has broad substrate specificity for aldoses including pentoses and hexoses
PMID: 18245775
4
GLUT1 transports wide range of aldoses
PMID: 19449892
5
GLUT1 Deficiency Syndrome is treatable but complex; pathomechanisms beyond energy depletion
PMID: 40405536
6
SLC2A1 implicated in epilepsy genetics
PMID: 29478594
7
SLC2A1 variants associated with type 2 diabetes and diabetic nephropathy
PMID: 30353771
8
METTL3 stabilizes SLC2A1 expression to promote colorectal cancer glycolysis and tumorigenesis
PMID: 32245489
9
SLC2A1 upregulation associates with worse survival and poor immunotherapy response in lung squamous cell carcinoma; promotes M2 macrophage polarization
PMID: 38422959
10
SLC2A1 functions in ferroptosis regulation relevant to acute kidney injury
PMID: 38517368
11
TAM-specific SLC2A1 expression spatially excludes CD8+ T cells and drives checkpoint blockade resistance
PMID: 41501177
Disease Associationsβ“˜25
encephalopathy due to GLUT1 deficiencyOpen Targets
0.85Strong
generalised epilepsyOpen Targets
0.80Strong
Paroxysmal exertion-induced dyskinesiaOpen Targets
0.80Strong
dystonia 9Open Targets
0.79Strong
hereditary cryohydrocytosis with reduced stomatinOpen Targets
0.78Strong
childhood onset GLUT1 deficiency syndrome 2Open Targets
0.72Strong
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityOpen Targets
0.67Moderate
SeizureOpen Targets
0.64Moderate
Intellectual disabilityOpen Targets
0.63Moderate
GLUT1 deficiency syndromeOpen Targets
0.61Moderate
glucose transport disorderOpen Targets
0.56Moderate
glut1 deficiency syndrome 1, autosomal recessiveOpen Targets
0.56Moderate
DystoniaOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
paroxysmal dyskinesiaOpen Targets
0.47Moderate
Epileptic encephalopathyOpen Targets
0.46Moderate
cataractOpen Targets
0.46Moderate
Spastic paraplegiaOpen Targets
0.46Moderate
Rare hereditary ataxiaOpen Targets
0.46Moderate
Dystonia 9UniProt
Epilepsy, idiopathic generalized 12UniProt
GLUT1 deficiency syndrome 1UniProt
GLUT1 deficiency syndrome 2UniProt
Stomatin-deficient cryohydrocytosis with neurologic defectsUniProt
Pathogenic Variants339
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)Pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 96
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)Pathogenic
Encephalopathy due to GLUT1 deficiency|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Childhood onset GLUT1 deficiency syndrome 2|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 126
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 12|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 458
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)Pathogenic
Childhood onset GLUT1 deficiency syndrome 2|not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
β˜…β˜…β˜†β˜†2026β†’ Residue 275
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)Pathogenic
not provided|GLUT1 deficiency syndrome|Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Inborn genetic diseases|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|SLC2A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_006516.4(SLC2A1):c.399C>A (p.Cys133Ter)Pathogenic
not provided|Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 133
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)Pathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|Seizure
β˜…β˜…β˜†β˜†2025β†’ Residue 212
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)Pathogenic
Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2|Childhood onset GLUT1 deficiency syndrome 2|SLC2A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_006516.4(SLC2A1):c.115-2A>CPathogenic
Dystonia 9|not provided|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2025
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)Pathogenic
not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Microcephaly;Epilepsy;intellectual deficiency|Encephalopathy due to GLUT1 deficiency|Inborn genetic diseases|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9
β˜…β˜…β˜†β˜†2025β†’ Residue 330
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)Pathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|GLUT1 deficiency syndrome|Intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 295
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)Pathogenic
not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Inborn genetic diseases|Dystonia 9|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 400
NM_006516.4(SLC2A1):c.388G>C (p.Gly130Arg)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 130
NM_006516.4(SLC2A1):c.275+1G>CPathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
β˜…β˜…β˜†β˜†2025
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)Pathogenic
Paroxysmal dystonia|GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)Likely pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_006516.4(SLC2A1):c.-107G>APathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)Pathogenic
Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Hereditary cryohydrocytosis with reduced stomatin|Chromosome 17q23.1-q23.2 deletion syndrome|SLC2A1-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)Pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 329
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 12|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 232
View on ClinVar β†—
Related Genes
SLC16A3Protein interaction100%HIF1AProtein interaction100%GIPC1Protein interaction100%SLC16A4Protein interaction97%MYCProtein interaction93%INSProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Heart
9%
Ovary
5%
Lung
4%
Liver
1%
Gene Interaction Network
Click a node to explore
SLC2A1SLC16A3HIF1AGIPC1SLC16A4MYCINS
PROTEIN STRUCTURE
Preparing viewer…
PDB6THA Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.14Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.02–0.14]
RankingsWhere SLC2A1 stands among ~20K protein-coding genes
  • #248of 20,598
    Most Researched796 Β· top 5%
  • #173of 5,498
    Most Pathogenic Variants339 Β· top 5%
  • #164of 17,882
    Most Constrained (LOEUF)0.14 Β· top 1%
Genes detectedSLC2A1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
m
PMID: 32245489
Mol Cancer Β· 2020
1.00
2
Isoginkgetin, a potential CDK6 inhibitor, suppresses
PMID: 36048765
Autophagy Β· 2023
0.90
3
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
PMID: 40405536
J Inherit Metab Dis Β· 2025
0.80
4
Determination of PDK1, SLC2A1, EGFR, PTEN, CD276 Gene Expression Levels and IDH1 Gene R132H Polymorphism in Brain Tumor Tissues.
PMID: 37528722
Turk Neurosurg Β· 2023
0.80
5
GLUT1DS focus on dysarthria.
PMID: 38851145
Eur J Paediatr Neurol Β· 2024
0.78