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SLC2A1 (solute carrier family 2 member 1)

Identity

Alias_namesGLUT1
GLUT
HTLVR
CSE
human T-cell leukemia virus (I and II) receptor
choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)
solute carrier family 2 (facilitated glucose transporter), member 1
Alias_symbol (synonym)DYT18
DYT9
Other aliasDYT17
EIG12
GLUT-1
GLUT1DS
PED
SDCHCN
HGNC (Hugo) SLC2A1
LocusID (NCBI) 6513
Atlas_Id 43725
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 42925375 and ends at 42959176 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACTR1A (10q24.32) / SLC2A1 (1p34.2)BLMH (17q11.2) / SLC2A1 (1p34.2)PERP (6q23.3) / SLC2A1 (1p34.2)
SLC2A1 (1p34.2) / ATN1 (12p13.31)SLC2A1 (1p34.2) / CAPZB (1p36.13)SLC2A1 (1p34.2) / FAF1 (1p32.3)
SLC2A1 (1p34.2) / GRHL3 (1p36.11)SLC2A1 (1p34.2) / TSPAN1 (1p34.1)SLC2A1 1p34.2 / GRHL3 1p36.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC2A1   11005
Cards
Entrez_Gene (NCBI)SLC2A1  6513  solute carrier family 2 member 1
AliasesCSE; DYT17; DYT18; DYT9; 
EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN
GeneCards (Weizmann)SLC2A1
Ensembl hg19 (Hinxton)ENSG00000117394 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117394 [Gene_View]  chr1:42925375-42959176 [Contig_View]  SLC2A1 [Vega]
ICGC DataPortalENSG00000117394
TCGA cBioPortalSLC2A1
AceView (NCBI)SLC2A1
Genatlas (Paris)SLC2A1
WikiGenes6513
SOURCE (Princeton)SLC2A1
Genetics Home Reference (NIH)SLC2A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC2A1  -     chr1:42925375-42959176 -  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC2A1  -     1p34.2   [Description]    (hg19-Feb_2009)
EnsemblSLC2A1 - 1p34.2 [CytoView hg19]  SLC2A1 - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBISLC2A1 [Mapview hg19]  SLC2A1 [Mapview hg38]
OMIM138140   608885   
Gene and transcription
Genbank (Entrez)AB208987 AF070544 AK122999 AK292791 AK293306
RefSeq transcript (Entrez)NM_006516
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC2A1
Cluster EST : UnigeneHs.473721 [ NCBI ]
CGAP (NCI)Hs.473721
Alternative Splicing GalleryENSG00000117394
Gene ExpressionSLC2A1 [ NCBI-GEO ]   SLC2A1 [ EBI - ARRAY_EXPRESS ]   SLC2A1 [ SEEK ]   SLC2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6513
GTEX Portal (Tissue expression)SLC2A1
Human Protein AtlasENSG00000117394-SLC2A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11166   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11166  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11166
Splice isoforms : SwissVarP11166
PhosPhoSitePlusP11166
Domaine pattern : Prosite (Expaxy)MFS (PS50850)    SUGAR_TRANSPORT_1 (PS00216)    SUGAR_TRANSPORT_2 (PS00217)   
Domains : Interpro (EBI)Glu_transpt_1    MFS_dom    MFS_sugar_transport-like    Sugar/inositol_transpt    Sugar_transporter_CS   
Domain families : Pfam (Sanger)Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam00083   
Conserved Domain (NCBI)SLC2A1
DMDM Disease mutations6513
Blocks (Seattle)SLC2A1
PDB (SRS)1SUK    4PYP    5EQG    5EQH    5EQI   
PDB (PDBSum)1SUK    4PYP    5EQG    5EQH    5EQI   
PDB (IMB)1SUK    4PYP    5EQG    5EQH    5EQI   
PDB (RSDB)1SUK    4PYP    5EQG    5EQH    5EQI   
Structural Biology KnowledgeBase1SUK    4PYP    5EQG    5EQH    5EQI   
SCOP (Structural Classification of Proteins)1SUK    4PYP    5EQG    5EQH    5EQI   
CATH (Classification of proteins structures)1SUK    4PYP    5EQG    5EQH    5EQI   
SuperfamilyP11166
Human Protein Atlas [tissue]ENSG00000117394-SLC2A1 [tissue]
Peptide AtlasP11166
HPRD00683
IPIIPI00220194   IPI00909237   IPI01015815   IPI00640593   IPI00641086   IPI00641837   
Protein Interaction databases
DIP (DOE-UCLA)P11166
IntAct (EBI)P11166
FunCoupENSG00000117394
BioGRIDSLC2A1
STRING (EMBL)SLC2A1
ZODIACSLC2A1
Ontologies - Pathways
QuickGOP11166
Ontology : AmiGOGolgi membrane  female pronucleus  glucose transmembrane transporter activity  glucose transmembrane transporter activity  glucose transmembrane transporter activity  protein binding  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  cell-cell junction  lactose biosynthetic process  protein complex assembly  response to osmotic stress  glucose transport  glucose transport  membrane  basolateral plasma membrane  apical plasma membrane  L-ascorbic acid metabolic process  kinase binding  midbody  cortical actin cytoskeleton  dehydroascorbic acid transporter activity  cellular response to glucose starvation  melanosome  identical protein binding  xenobiotic transport  xenobiotic transporter activity  protein self-association  regulation of insulin secretion  D-glucose transmembrane transporter activity  extracellular exosome  dehydroascorbic acid transport  blood microparticle  glucose transmembrane transport  
Ontology : EGO-EBIGolgi membrane  female pronucleus  glucose transmembrane transporter activity  glucose transmembrane transporter activity  glucose transmembrane transporter activity  protein binding  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  cell-cell junction  lactose biosynthetic process  protein complex assembly  response to osmotic stress  glucose transport  glucose transport  membrane  basolateral plasma membrane  apical plasma membrane  L-ascorbic acid metabolic process  kinase binding  midbody  cortical actin cytoskeleton  dehydroascorbic acid transporter activity  cellular response to glucose starvation  melanosome  identical protein binding  xenobiotic transport  xenobiotic transporter activity  protein self-association  regulation of insulin secretion  D-glucose transmembrane transporter activity  extracellular exosome  dehydroascorbic acid transport  blood microparticle  glucose transmembrane transport  
Pathways : BIOCARTAVitamin C in the Brain [Genes]   
Pathways : KEGGHIF-1 signaling pathway    Insulin secretion    Thyroid hormone signaling pathway    Adipocytokine signaling pathway    Bile secretion    HTLV-I infection    Pathways in cancer    Renal cell carcinoma   
NDEx NetworkSLC2A1
Atlas of Cancer Signalling NetworkSLC2A1
Wikipedia pathwaysSLC2A1
Orthology - Evolution
OrthoDB6513
GeneTree (enSembl)ENSG00000117394
Phylogenetic Trees/Animal Genes : TreeFamSLC2A1
HOVERGENP11166
HOGENOMP11166
Homologs : HomoloGeneSLC2A1
Homology/Alignments : Family Browser (UCSC)SLC2A1
Gene fusions - Rearrangements
Fusion : MitelmanSLC2A1/FAF1 [1p34.2/1p32.3]  
Fusion : MitelmanSLC2A1/GRHL3 [1p34.2/1p36.11]  [t(1;1)(p34;p36)]  
Fusion: TCGA_MDACCSLC2A1 1p34.2 GRHL3 1p36.11 BRCA
Tumor Fusion PortalSLC2A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC2A1
dbVarSLC2A1
ClinVarSLC2A1
1000_GenomesSLC2A1 
Exome Variant ServerSLC2A1
ExAC (Exome Aggregation Consortium)ENSG00000117394
GNOMAD BrowserENSG00000117394
Genetic variants : HAPMAP6513
Genomic Variants (DGV)SLC2A1 [DGVbeta]
DECIPHERSLC2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC2A1 
Mutations
ICGC Data PortalSLC2A1 
TCGA Data PortalSLC2A1 
Broad Tumor PortalSLC2A1
OASIS PortalSLC2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC2A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC2A1
DgiDB (Drug Gene Interaction Database)SLC2A1
DoCM (Curated mutations)SLC2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC2A1 (select a term)
intoGenSLC2A1
Cancer3DSLC2A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138140    608885   
Orphanet17776    10999    10832    10724    13828   
DisGeNETSLC2A1
MedgenSLC2A1
Genetic Testing Registry SLC2A1
NextProtP11166 [Medical]
TSGene6513
GENETestsSLC2A1
Target ValidationSLC2A1
Huge Navigator SLC2A1 [HugePedia]
snp3D : Map Gene to Disease6513
BioCentury BCIQSLC2A1
ClinGenSLC2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6513
Chemical/Pharm GKB GenePA35875
Clinical trialSLC2A1
Miscellaneous
canSAR (ICR)SLC2A1 (select the gene name)
Probes
Litterature
PubMed454 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC2A1
EVEXSLC2A1
GoPubMedSLC2A1
iHOPSLC2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:35:05 CET 2017

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