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SLC2A1 (solute carrier family 2 member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6513
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 2 member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC2A1
SynonymsGene synonyms aliases
CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
SummarySummary 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 II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
SNPsSNP 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT035848 hsa-miR-1262 CLASH 23622248
MIRT041808 hsa-miR-484 CLASH 23622248
MIRT042866 hsa-miR-324-3p CLASH 23622248
MIRT044855 hsa-miR-320a CLASH 23622248
MIRT045432 hsa-miR-149-5p 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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: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). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity).
PDB 1SUK , 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
Sequence
Sequence length 492
Interactions View interactions

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