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SLC2A1 (solute carrier family 2 member 1)

Identity

Alias (NCBI)CSE
DYT17
DYT18
DYT9
EIG12
GLUT
GLUT-1
GLUT1
GLUT1DS
HTLVR
PED
SDCHCN
HGNC (Hugo) SLC2A1
HGNC Alias symbDYT18
DYT9
HGNC Previous nameGLUT1
 GLUT
 HTLVR
 CSE
HGNC Previous namehuman T-cell leukemia virus (I and II) receptor
 choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)
 solute carrier family 2 (facilitated glucose transporter), member 1
LocusID (NCBI) 6513
Atlas_Id 43725
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 42925375 and ends at 42958868 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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p32;p34) SLC2A1/FAF1
t(1;1)(p34;p36) SLC2A1/GRHL3


External links

Nomenclature
HGNC (Hugo)SLC2A1   11005
LRG (Locus Reference Genomic)LRG_1132
Cards
Entrez_Gene (NCBI)SLC2A1    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]  ENSG00000117394 [Sequence]  chr1:42925375-42958868 [Contig_View]  SLC2A1 [Vega]
ICGC DataPortalENSG00000117394
TCGA cBioPortalSLC2A1
AceView (NCBI)SLC2A1
Genatlas (Paris)SLC2A1
SOURCE (Princeton)SLC2A1
Genetics Home Reference (NIH)SLC2A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC2A1  -     chr1:42925375-42958868 -  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC2A1  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathSLC2A1 - 1p34.2 [CytoView hg19]  SLC2A1 - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000117394
genome Data Viewer NCBISLC2A1 [Mapview hg19]  
OMIM138140   601042   606777   608885   612126   614847   
Gene and transcription
Genbank (Entrez)AB208987 AF070544 AK122999 AK292791 AK293306
RefSeq transcript (Entrez)NM_006516
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC2A1
Alternative Splicing GalleryENSG00000117394
Gene ExpressionSLC2A1 [ NCBI-GEO ]   SLC2A1 [ EBI - ARRAY_EXPRESS ]   SLC2A1 [ SEEK ]   SLC2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC2A1 [ Firebrowse - Broad ]
GenevisibleExpression of SLC2A1 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    MFS_trans_sf    Sugar/inositol_transpt    Sugar_transporter_CS   
Domain families : Pfam (Sanger)Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam00083   
Conserved Domain (NCBI)SLC2A1
Blocks (Seattle)SLC2A1
PDB (RSDB)1SUK    4PYP    5EQG    5EQH    5EQI   
PDB Europe1SUK    4PYP    5EQG    5EQH    5EQI   
PDB (PDBSum)1SUK    4PYP    5EQG    5EQH    5EQI   
PDB (IMB)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
BioGRIDSLC2A1
STRING (EMBL)SLC2A1
ZODIACSLC2A1
Ontologies - Pathways
QuickGOP11166
Ontology : AmiGOGolgi membrane  response to hypoxia  female pronucleus  long-chain fatty acid transporter activity  glucose transmembrane transporter activity  protein binding  cytosol  plasma membrane  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  lactose biosynthetic process  central nervous system development  female pregnancy  regulation of glucose transmembrane transport  intercalated disc  plasma membrane long-chain fatty acid transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  L-ascorbic acid metabolic process  kinase binding  cerebral cortex development  Z disc  midbody  cortical actin cytoskeleton  response to insulin  dehydroascorbic acid transmembrane transporter activity  cellular response to glucose starvation  sarcolemma  melanosome  identical protein binding  xenobiotic transport  xenobiotic transmembrane transporter activity  protein self-association  regulation of insulin secretion  D-glucose transmembrane transporter activity  protein-containing complex assembly  extracellular exosome  dehydroascorbic acid transport  cellular response to mechanical stimulus  cellular hyperosmotic response  blood microparticle  glucose import across plasma membrane  glucose import across plasma membrane  presynapse  response to Thyroglobulin triiodothyronine  glucose transmembrane transport  glucose transmembrane transport  glucose transmembrane transport  
Ontology : EGO-EBIGolgi membrane  response to hypoxia  female pronucleus  long-chain fatty acid transporter activity  glucose transmembrane transporter activity  protein binding  cytosol  plasma membrane  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  lactose biosynthetic process  central nervous system development  female pregnancy  regulation of glucose transmembrane transport  intercalated disc  plasma membrane long-chain fatty acid transport  membrane  integral component of membrane  basolateral plasma membrane  apical plasma membrane  L-ascorbic acid metabolic process  kinase binding  cerebral cortex development  Z disc  midbody  cortical actin cytoskeleton  response to insulin  dehydroascorbic acid transmembrane transporter activity  cellular response to glucose starvation  sarcolemma  melanosome  identical protein binding  xenobiotic transport  xenobiotic transmembrane transporter activity  protein self-association  regulation of insulin secretion  D-glucose transmembrane transporter activity  protein-containing complex assembly  extracellular exosome  dehydroascorbic acid transport  cellular response to mechanical stimulus  cellular hyperosmotic response  blood microparticle  glucose import across plasma membrane  glucose import across plasma membrane  presynapse  response to Thyroglobulin triiodothyronine  glucose transmembrane transport  glucose transmembrane transport  glucose transmembrane transport  
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
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]  
Fusion PortalSLC2A1 1p34.2 GRHL3 1p36.11 BRCA
Fusion : QuiverSLC2A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC2A1 [hg38]
dbVarSLC2A1
ClinVarSLC2A1
MonarchSLC2A1
1000_GenomesSLC2A1 
Exome Variant ServerSLC2A1
GNOMAD BrowserENSG00000117394
Varsome BrowserSLC2A1
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]  
Somatic Mutations in Cancer : COSMIC3DSLC2A1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138140    601042    606777    608885    612126    614847   
Orphanet17776    10999    10832    10724    13828   
DisGeNETSLC2A1
MedgenSLC2A1
Genetic Testing Registry SLC2A1
NextProtP11166 [Medical]
GENETestsSLC2A1
Target ValidationSLC2A1
Huge Navigator SLC2A1 [HugePedia]
ClinGenSLC2A1
Clinical trials, drugs, therapy
MyCancerGenomeSLC2A1
Protein Interactions : CTD
Pharm GKB GenePA35875
Pharm GKB PathwaysPA165971634   
Clinical trialSLC2A1
Miscellaneous
canSAR (ICR)SLC2A1 (select the gene name)
HarmonizomeSLC2A1
DataMed IndexSLC2A1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSLC2A1
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 : Sat Dec 5 21:10:20 CET 2020

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