Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SLC1A3 (solute carrier family 1 member 3)

Identity

Alias_namessolute carrier family 1 (glial high affinity glutamate transporter)
Alias_symbol (synonym)EAAT1
GLAST
EA6
Other aliasGLAST1
HGNC (Hugo) SLC1A3
LocusID (NCBI) 6507
Atlas_Id 42312
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 36606355 and ends at 36688334 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)
BSG (19p13.3) / SLC1A3 (5p13.2)HSPA1B (6p21.33) / SLC1A3 (5p13.2)LOC100507412 (-) / SLC1A3 (5p13.2)
MBP (18q23) / SLC1A3 (5p13.2)MICAL3 (22q11.21) / SLC1A3 (5p13.2)NIPBL (5p13.2) / SLC1A3 (5p13.2)
PKM (15q23) / SLC1A3 (5p13.2)SDC3 (1p35.2) / SLC1A3 (5p13.2)SLC1A3 (5p13.2) / C20orf196 (20p12.3)
SLC1A3 (5p13.2) / DCLRE1A (10q25.3)SLC1A3 (5p13.2) / IFITM1 (11p15.5)SLC1A3 (5p13.2) / METTL15 (11p14.1)
SLC1A3 (5p13.2) / RABEP1 (17p13.2)SLC1A3 (5p13.2) / RHBDD3 (22q12.2)SLC1A3 (5p13.2) / SLC1A3 (5p13.2)
SLC1A3 (5p13.2) / TIMP2 (17q25.3)TMEM87B (2q13) / SLC1A3 (5p13.2)HSPA1B 6p21.33 / SLC1A3 5p13.2
MBP 18q23 / SLC1A3 5p13.2NIPBL 5p13.2 / SLC1A3 5p13.2PKM2 SLC1A3 5p13.2
SDC3 1p35.2 / SLC1A3 5p13.2SLC1A3 5p13.2 / C20orf196 20p12.3SLC1A3 5p13.2 / METTL15 11p14.1
SLC1A3 5p13.2 / RABEP1 17p13.2

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) [ 8 ]
  t(1;5)(p35;p13) SDC3/SLC1A3
NIPBL/SLC1A3 (5p13)
t(5;6)(p13;p21) HSPA1B/SLC1A3
t(5;11)(p13;p14) SLC1A3/METTL15
t(5;15)(p13;q23) PKM/SLC1A3
t(5;17)(p13;p13) SLC1A3/RABEP1
t(5;18)(p13;q23) MBP/SLC1A3
t(5;20)(p13;p12) SLC1A3/C20orf196


External links

Nomenclature
HGNC (Hugo)SLC1A3   10941
Cards
Entrez_Gene (NCBI)SLC1A3  6507  solute carrier family 1 member 3
AliasesEA6; EAAT1; GLAST; GLAST1
GeneCards (Weizmann)SLC1A3
Ensembl hg19 (Hinxton)ENSG00000079215 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079215 [Gene_View]  ENSG00000079215 [Sequence]  chr5:36606355-36688334 [Contig_View]  SLC1A3 [Vega]
ICGC DataPortalENSG00000079215
TCGA cBioPortalSLC1A3
AceView (NCBI)SLC1A3
Genatlas (Paris)SLC1A3
WikiGenes6507
SOURCE (Princeton)SLC1A3
Genetics Home Reference (NIH)SLC1A3
Genomic and cartography
GoldenPath hg38 (UCSC)SLC1A3  -     chr5:36606355-36688334 +  5p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC1A3  -     5p13.2   [Description]    (hg19-Feb_2009)
EnsemblSLC1A3 - 5p13.2 [CytoView hg19]  SLC1A3 - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBISLC1A3 [Mapview hg19]  SLC1A3 [Mapview hg38]
OMIM600111   612656   
Gene and transcription
Genbank (Entrez)AF070609 AK057823 AK293886 AK295032 AK295754
RefSeq transcript (Entrez)NM_001166695 NM_001166696 NM_001289939 NM_001289940 NM_004172
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC1A3
Cluster EST : UnigeneHs.481918 [ NCBI ]
CGAP (NCI)Hs.481918
Alternative Splicing GalleryENSG00000079215
Gene ExpressionSLC1A3 [ NCBI-GEO ]   SLC1A3 [ EBI - ARRAY_EXPRESS ]   SLC1A3 [ SEEK ]   SLC1A3 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC1A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6507
GTEX Portal (Tissue expression)SLC1A3
Human Protein AtlasENSG00000079215-SLC1A3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43003   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43003  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43003
Splice isoforms : SwissVarP43003
PhosPhoSitePlusP43003
Domaine pattern : Prosite (Expaxy)NA_DICARBOXYL_SYMP_1 (PS00713)    NA_DICARBOXYL_SYMP_2 (PS00714)   
Domains : Interpro (EBI)Na-dicarboxylate_symporter    Na-dicarboxylate_symporter_CS    Na:dicarbo_symporter_sf   
Domain families : Pfam (Sanger)SDF (PF00375)   
Domain families : Pfam (NCBI)pfam00375   
Conserved Domain (NCBI)SLC1A3
DMDM Disease mutations6507
Blocks (Seattle)SLC1A3
PDB (SRS)5LLM    5LLU    5LM4    5MJU   
PDB (PDBSum)5LLM    5LLU    5LM4    5MJU   
PDB (IMB)5LLM    5LLU    5LM4    5MJU   
PDB (RSDB)5LLM    5LLU    5LM4    5MJU   
Structural Biology KnowledgeBase5LLM    5LLU    5LM4    5MJU   
SCOP (Structural Classification of Proteins)5LLM    5LLU    5LM4    5MJU   
CATH (Classification of proteins structures)5LLM    5LLU    5LM4    5MJU   
SuperfamilyP43003
Human Protein Atlas [tissue]ENSG00000079215-SLC1A3 [tissue]
Peptide AtlasP43003
HPRD02523
IPIIPI00015473   IPI00908330   IPI00908777   IPI00910577   IPI00642894   IPI00954253   IPI00963997   
Protein Interaction databases
DIP (DOE-UCLA)P43003
IntAct (EBI)P43003
FunCoupENSG00000079215
BioGRIDSLC1A3
STRING (EMBL)SLC1A3
ZODIACSLC1A3
Ontologies - Pathways
QuickGOP43003
Ontology : AmiGOneurotransmitter uptake  L-glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  plasma membrane  integral component of plasma membrane  glutamate biosynthetic process  ion transport  chemical synaptic transmission  sensory perception of sound  response to light stimulus  gamma-aminobutyric acid biosynthetic process  response to wounding  cell surface  glutamate secretion  amino acid transmembrane transporter activity  glutamate:sodium symporter activity  glutamate:sodium symporter activity  L-glutamate transmembrane transport  membrane  glutamate binding  cranial nerve development  auditory behavior  neuron projection  neuronal cell body  response to antibiotic  metal ion binding  cell morphogenesis involved in neuron differentiation  positive regulation of synaptic transmission  neuromuscular process controlling balance  L-glutamate import  D-aspartate import across plasma membrane  D-aspartate import across plasma membrane  potassium ion transmembrane transport  L-glutamate import across plasma membrane  L-glutamate import across plasma membrane  L-aspartate import across plasma membrane  L-aspartate import across plasma membrane  chloride transmembrane transport  
Ontology : EGO-EBIneurotransmitter uptake  L-glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  plasma membrane  integral component of plasma membrane  glutamate biosynthetic process  ion transport  chemical synaptic transmission  sensory perception of sound  response to light stimulus  gamma-aminobutyric acid biosynthetic process  response to wounding  cell surface  glutamate secretion  amino acid transmembrane transporter activity  glutamate:sodium symporter activity  glutamate:sodium symporter activity  L-glutamate transmembrane transport  membrane  glutamate binding  cranial nerve development  auditory behavior  neuron projection  neuronal cell body  response to antibiotic  metal ion binding  cell morphogenesis involved in neuron differentiation  positive regulation of synaptic transmission  neuromuscular process controlling balance  L-glutamate import  D-aspartate import across plasma membrane  D-aspartate import across plasma membrane  potassium ion transmembrane transport  L-glutamate import across plasma membrane  L-glutamate import across plasma membrane  L-aspartate import across plasma membrane  L-aspartate import across plasma membrane  chloride transmembrane transport  
Pathways : KEGGGlutamatergic synapse   
NDEx NetworkSLC1A3
Atlas of Cancer Signalling NetworkSLC1A3
Wikipedia pathwaysSLC1A3
Orthology - Evolution
OrthoDB6507
GeneTree (enSembl)ENSG00000079215
Phylogenetic Trees/Animal Genes : TreeFamSLC1A3
HOVERGENP43003
HOGENOMP43003
Homologs : HomoloGeneSLC1A3
Homology/Alignments : Family Browser (UCSC)SLC1A3
Gene fusions - Rearrangements
Fusion : MitelmanHSPA1B/SLC1A3 [6p21.33/5p13.2]  [t(5;6)(p13;p21)]  
Fusion : MitelmanMBP/SLC1A3 [18q23/5p13.2]  [t(5;18)(p13;q23)]  
Fusion : MitelmanNIPBL/SLC1A3 [5p13.2/5p13.2]  [t(5;5)(p13;p13)]  
Fusion : MitelmanPKM/SLC1A3 [15q23/5p13.2]  [t(5;15)(p13;q23)]  
Fusion : MitelmanSDC3/SLC1A3 [1p35.2/5p13.2]  [t(1;5)(p35;p13)]  
Fusion : MitelmanSLC1A3/C20orf196 [5p13.2/20p12.3]  [t(5;20)(p13;p12)]  
Fusion : MitelmanSLC1A3/METTL15 [5p13.2/11p14.1]  [t(5;11)(p13;p14)]  
Fusion : MitelmanSLC1A3/RABEP1 [5p13.2/17p13.2]  [t(5;17)(p13;p13)]  
Fusion PortalHSPA1B 6p21.33 SLC1A3 5p13.2 LGG
Fusion PortalMBP 18q23 SLC1A3 5p13.2 LGG
Fusion PortalNIPBL 5p13.2 SLC1A3 5p13.2 LUAD
Fusion PortalPKM2 SLC1A3 5p13.2 LGG
Fusion PortalSDC3 1p35.2 SLC1A3 5p13.2 LGG
Fusion PortalSLC1A3 5p13.2 C20orf196 20p12.3 LUAD
Fusion PortalSLC1A3 5p13.2 METTL15 11p14.1 BRCA
Fusion PortalSLC1A3 5p13.2 RABEP1 17p13.2 LGG
Fusion : QuiverSLC1A3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC1A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC1A3
dbVarSLC1A3
ClinVarSLC1A3
1000_GenomesSLC1A3 
Exome Variant ServerSLC1A3
ExAC (Exome Aggregation Consortium)ENSG00000079215
GNOMAD BrowserENSG00000079215
Varsome BrowserSLC1A3
Genetic variants : HAPMAP6507
Genomic Variants (DGV)SLC1A3 [DGVbeta]
DECIPHERSLC1A3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC1A3 
Mutations
ICGC Data PortalSLC1A3 
TCGA Data PortalSLC1A3 
Broad Tumor PortalSLC1A3
OASIS PortalSLC1A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC1A3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC1A3
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
BioMutasearch SLC1A3
DgiDB (Drug Gene Interaction Database)SLC1A3
DoCM (Curated mutations)SLC1A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC1A3 (select a term)
intoGenSLC1A3
Cancer3DSLC1A3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600111    612656   
Orphanet748    18676   
DisGeNETSLC1A3
MedgenSLC1A3
Genetic Testing Registry SLC1A3
NextProtP43003 [Medical]
TSGene6507
GENETestsSLC1A3
Target ValidationSLC1A3
Huge Navigator SLC1A3 [HugePedia]
snp3D : Map Gene to Disease6507
BioCentury BCIQSLC1A3
ClinGenSLC1A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6507
Chemical/Pharm GKB GenePA35828
Clinical trialSLC1A3
Miscellaneous
canSAR (ICR)SLC1A3 (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC1A3
EVEXSLC1A3
GoPubMedSLC1A3
iHOPSLC1A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:52:36 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.