Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6513
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 2 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC2A1
Synonyms (NCBI Gene) Gene synonyms aliases
CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DYT9, EIG12, SDCHCN
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs13306758 G>A,T Likely-pathogenic, benign, likely-benign, risk-factor, pathogenic Coding sequence variant, synonymous variant, missense variant
rs34025424 C>A,T Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs55693364 C>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs75485205 G>A,T Likely-benign, benign, pathogenic, benign-likely-benign Stop gained, coding sequence variant, synonymous variant
rs75852730 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045432 hsa-miR-149-5p CLASH 23622248
MIRT044855 hsa-miR-320a CLASH 23622248
MIRT042866 hsa-miR-324-3p CLASH 23622248
MIRT041808 hsa-miR-484 CLASH 23622248
MIRT035848 hsa-miR-1262 CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
ATM Repression 20676049
HDAC5 Activation 22991226
HIF1A Activation 15525582
HIF1A Unknown 16025159;17426252;17486380;18097583
TP53 Repression 22483234
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001666 Process Response to hypoxia IEA
GO:0001917 Component Photoreceptor inner segment IEA
GO:0001939 Component Female pronucleus IEA
GO:0005324 Function Long-chain fatty acid transporter activity IMP 10227690
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138140 11005 ENSG00000117394
Protein
UniProt ID P11166
Protein name Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)
Protein function Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate s
PDB 4PYP , 5EQG , 5EQH , 5EQI , 6THA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 16 467 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues. {ECO:0000269|PubMed:23219802}.
Sequence
Sequence length 492
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
dystonia dystonia 9 GenCC
GLUT1 Deficiency Syndrome childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome GenCC
Epilepsy childhood absence epilepsy, epilepsy, idiopathic generalized, susceptibility to, 12 GenCC
Myoclonic-Astatic Epilepsy myoclonic-astatic epilepsy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Oxyphilic Associate 28790533
Carcinoma Hepatocellular Associate 28790533
Carcinoma Non Small Cell Lung Associate 39251710
Glioma Associate 34520391
Glut1 Deficiency Syndrome Associate 37000947
Melanoma Associate 26293674
Neoplasms Associate 22227015, 28790533, 39251710