Homo sapiens Gene: SLC2A1 | |||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-97330.6 | ||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||
Gene Symbol | SLC2A1 | ||||||||||||||||||||||||||||||||
Gene Name | solute carrier family 2 (facilitated glucose transporter), member 1 | ||||||||||||||||||||||||||||||||
Synonyms | DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED | ||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||
Ensembl Gene | ENSG00000117394 | ||||||||||||||||||||||||||||||||
Encoded Proteins |
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
solute carrier family 2 (facilitated glucose transporter), member 1
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Protein Structure | |||||||||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||||||||
Summary |
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||
Genomic Location | Chromosome 1:42925381-42958859 | ||||||||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||||||||
Band | p34.2 | ||||||||||||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||||||||
NETPATH |
IL3 pathway
TSH pathway
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REACTOME |
Glucose transport pathway
Hexose transport pathway
Regulation of insulin secretion pathway
Integration of energy metabolism pathway
Vitamin C (ascorbate) metabolism pathway
Transmembrane transport of small molecules pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Myoclonic epilepsy of Lafora pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of carbohydrates pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
SLC-mediated transmembrane transport pathway
Disease pathway
Glycogen storage diseases pathway
Metabolism of vitamins and cofactors pathway
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KEGG |
Renal cell carcinoma pathway
Adipocytokine signaling pathway pathway
Pathways in cancer pathway
Bile secretion pathway
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INOH | |||||||||||||||||||||||||||||||||
PID NCI |
Validated targets of C-MYC transcriptional activation
HIF-2-alpha transcription factor network
HIF-1-alpha transcription factor network
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Cross-References | |||||||||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||||||||
TrEMBL | C9JR18 | ||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||
Entrez Gene | 6513 | ||||||||||||||||||||||||||||||||
UniGene | Hs.473721 | ||||||||||||||||||||||||||||||||
RefSeq | NM_006516 | ||||||||||||||||||||||||||||||||
HUGO | HGNC:11005 | ||||||||||||||||||||||||||||||||
OMIM | 138140 | ||||||||||||||||||||||||||||||||
CCDS | CCDS477 | ||||||||||||||||||||||||||||||||
HPRD | 00683 | ||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||
EMBL | AC099795 | ||||||||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||||||||
RNA Seq Atlas | 6513 | ||||||||||||||||||||||||||||||||