SLC2A1

Gene Information
 
Gene Symbol
SLC2A1
 
Aliases
CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN
 
Entrez Gene ID
 
Gene Name
Solute carrier family 2 member 1
 
Chromosomal Location
1p34.2
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0065003 Biological process Protein-containing complex assembly IDA 18347014
GO:1904659 Biological process Glucose transmembrane transport IDA 18245775
GO:1904659 Biological process Glucose transmembrane transport IMP 21791420, 23280796
GO:0005886 Cellular component Plasma membrane IDA 21791420
GO:0005887 Cellular component Integral component of plasma membrane IDA 18245775
Protein Information
 
Protein Name
Solute carrier family 2, facilitated glucose transporter member 1, 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
 
Function
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690).
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00083 Sugar_tr
Pathways
 
KEGG
 
Reactome
 

HIF-1 signaling pathway
Insulin secretion
Thyroid hormone signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Bile secretion
Human T-cell leukemia virus 1 infection
Pathways in cancer
Renal cell carcinoma
Central carbon metabolism in cancer

 

Cellular hexose transport
Vitamin C (ascorbate) metabolism
Regulation of insulin secretion
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
Lactose synthesis

     

Associated Diseases

Disease groupDisease NameReferences
Blood Disorders
Anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases
Microcephaly
Atonic seizures
Microlissencephaly
References
 

The effects of vitamin D supplementation on metabolic profiles and gene expression of insulin and lipid metabolism in infertile polycystic ovary syndrome candidates for in vitro fertilization.

Dastorani Majid, Aghadavod Esmat, Mirhosseini Naghmeh, Foroozanfard Fatemeh, Zadeh Modarres Shahrzad, Amiri Siavashani Mehrnush, Asemi Zatollah
Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. aghadavod_m@yahoo.com.| School of Public Health, University of Saskatchewan, Saskatoon, SK, Canada.| Department of Gynecology and Obstetrics, School of Medicine, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Laser Application in Medical Science Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Taleghani Educational Hospital, IVF Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. asemi_r@yahoo.com.
Reprod Biol Endocrinol. 2018 Oct 4;16(1):94. doi: 10.1186/s12958-018-0413-3.

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