Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC1A1 (solute carrier family 1 member 1)

Identity

Alias_namessolute carrier family 1 (neuronal/epithelial high affinity glutamate transporter
Alias_symbol (synonym)EAAC1
EAAT3
Other aliasDCBXA
SCZD18
HGNC (Hugo) SLC1A1
LocusID (NCBI) 6505
Atlas_Id 49772
Location 9p24.2  [Link to chromosome band 9p24]
Location_base_pair Starts at 4490427 and ends at 4587469 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCL2L1 (20q11.21) / SLC1A1 (9p24.2)

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

 


External links

Nomenclature
HGNC (Hugo)SLC1A1   10939
Cards
Entrez_Gene (NCBI)SLC1A1  6505  solute carrier family 1 member 1
AliasesDCBXA; EAAC1; EAAT3; SCZD18
GeneCards (Weizmann)SLC1A1
Ensembl hg19 (Hinxton)ENSG00000106688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106688 [Gene_View]  chr9:4490427-4587469 [Contig_View]  SLC1A1 [Vega]
ICGC DataPortalENSG00000106688
TCGA cBioPortalSLC1A1
AceView (NCBI)SLC1A1
Genatlas (Paris)SLC1A1
WikiGenes6505
SOURCE (Princeton)SLC1A1
Genetics Home Reference (NIH)SLC1A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC1A1  -     chr9:4490427-4587469 +  9p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC1A1  -     9p24.2   [Description]    (hg19-Feb_2009)
EnsemblSLC1A1 - 9p24.2 [CytoView hg19]  SLC1A1 - 9p24.2 [CytoView hg38]
Mapping of homologs : NCBISLC1A1 [Mapview hg19]  SLC1A1 [Mapview hg38]
OMIM133550   615232   
Gene and transcription
Genbank (Entrez)AB008536 AF037982 AK313013 BC033040 BQ008494
RefSeq transcript (Entrez)NM_004170
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC1A1
Cluster EST : UnigeneHs.444915 [ NCBI ]
CGAP (NCI)Hs.444915
Alternative Splicing GalleryENSG00000106688
Gene ExpressionSLC1A1 [ NCBI-GEO ]   SLC1A1 [ EBI - ARRAY_EXPRESS ]   SLC1A1 [ SEEK ]   SLC1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6505
GTEX Portal (Tissue expression)SLC1A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43005   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43005  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43005
Splice isoforms : SwissVarP43005
PhosPhoSitePlusP43005
Domaine pattern : Prosite (Expaxy)NA_DICARBOXYL_SYMP_1 (PS00713)    NA_DICARBOXYL_SYMP_2 (PS00714)   
Domains : Interpro (EBI)Na-dicarboxylate_symporter    Na-dicarboxylate_symporter_CS   
Domain families : Pfam (Sanger)SDF (PF00375)   
Domain families : Pfam (NCBI)pfam00375   
Conserved Domain (NCBI)SLC1A1
DMDM Disease mutations6505
Blocks (Seattle)SLC1A1
SuperfamilyP43005
Human Protein AtlasENSG00000106688
Peptide AtlasP43005
HPRD00597
IPIIPI00015475   IPI00553139   
Protein Interaction databases
DIP (DOE-UCLA)P43005
IntAct (EBI)P43005
FunCoupENSG00000106688
BioGRIDSLC1A1
STRING (EMBL)SLC1A1
ZODIACSLC1A1
Ontologies - Pathways
QuickGOP43005
Ontology : AmiGOL-glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  ion transport  chemical synaptic transmission  positive regulation of heart rate  glutamate secretion  amino acid transmembrane transporter activity  glutamate:sodium symporter activity  membrane  apical plasma membrane  glutamate binding  cysteine transmembrane transporter activity  cysteine transport  protein homooligomerization  L-glutamate import  extracellular exosome  D-aspartate import  L-glutamate transmembrane transport  cysteine transmembrane transport  
Ontology : EGO-EBIL-glutamate transmembrane transporter activity  high-affinity glutamate transmembrane transporter activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  ion transport  chemical synaptic transmission  positive regulation of heart rate  glutamate secretion  amino acid transmembrane transporter activity  glutamate:sodium symporter activity  membrane  apical plasma membrane  glutamate binding  cysteine transmembrane transporter activity  cysteine transport  protein homooligomerization  L-glutamate import  extracellular exosome  D-aspartate import  L-glutamate transmembrane transport  cysteine transmembrane transport  
Pathways : KEGGGlutamatergic synapse    Protein digestion and absorption   
NDEx NetworkSLC1A1
Atlas of Cancer Signalling NetworkSLC1A1
Wikipedia pathwaysSLC1A1
Orthology - Evolution
OrthoDB6505
GeneTree (enSembl)ENSG00000106688
Phylogenetic Trees/Animal Genes : TreeFamSLC1A1
HOVERGENP43005
HOGENOMP43005
Homologs : HomoloGeneSLC1A1
Homology/Alignments : Family Browser (UCSC)SLC1A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC1A1
dbVarSLC1A1
ClinVarSLC1A1
1000_GenomesSLC1A1 
Exome Variant ServerSLC1A1
ExAC (Exome Aggregation Consortium)SLC1A1 (select the gene name)
Genetic variants : HAPMAP6505
Genomic Variants (DGV)SLC1A1 [DGVbeta]
DECIPHERSLC1A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC1A1 
Mutations
ICGC Data PortalSLC1A1 
TCGA Data PortalSLC1A1 
Broad Tumor PortalSLC1A1
OASIS PortalSLC1A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC1A1
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 SLC1A1
DgiDB (Drug Gene Interaction Database)SLC1A1
DoCM (Curated mutations)SLC1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC1A1 (select a term)
intoGenSLC1A1
Cancer3DSLC1A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133550    615232   
Orphanet3356   
MedgenSLC1A1
Genetic Testing Registry SLC1A1
NextProtP43005 [Medical]
TSGene6505
GENETestsSLC1A1
Target ValidationSLC1A1
Huge Navigator SLC1A1 [HugePedia]
snp3D : Map Gene to Disease6505
BioCentury BCIQSLC1A1
ClinGenSLC1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6505
Chemical/Pharm GKB GenePA35826
Clinical trialSLC1A1
Miscellaneous
canSAR (ICR)SLC1A1 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC1A1
EVEXSLC1A1
GoPubMedSLC1A1
iHOPSLC1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 17:14:39 CEST 2017

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