Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC3A1 (solute carrier family 3 member 1)

Identity

Alias_namessolute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
solute carrier family 3 (amino acid transporter heavy chain), member 1
Alias_symbol (synonym)CSNU1
D2H
RBAT
ATR1
NBAT
Other alias
HGNC (Hugo) SLC3A1
LocusID (NCBI) 6519
Atlas_Id 56285
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 44275458 and ends at 44320823 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)
HIVEP3 (1p34.2) / SLC3A1 (2p21)MSH2 (2p21) / SLC3A1 (2p21)SLC3A1 (2p21) / ZNF341 (20q11.22)

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)SLC3A1   11025
Cards
Entrez_Gene (NCBI)SLC3A1  6519  solute carrier family 3 member 1
AliasesATR1; CSNU1; D2H; NBAT; 
RBAT
GeneCards (Weizmann)SLC3A1
Ensembl hg19 (Hinxton)ENSG00000138079 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138079 [Gene_View]  chr2:44275458-44320823 [Contig_View]  SLC3A1 [Vega]
ICGC DataPortalENSG00000138079
TCGA cBioPortalSLC3A1
AceView (NCBI)SLC3A1
Genatlas (Paris)SLC3A1
WikiGenes6519
SOURCE (Princeton)SLC3A1
Genetics Home Reference (NIH)SLC3A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC3A1  -     chr2:44275458-44320823 +  2p21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC3A1  -     2p21   [Description]    (hg19-Feb_2009)
EnsemblSLC3A1 - 2p21 [CytoView hg19]  SLC3A1 - 2p21 [CytoView hg38]
Mapping of homologs : NCBISLC3A1 [Mapview hg19]  SLC3A1 [Mapview hg38]
OMIM104614   220100   
Gene and transcription
Genbank (Entrez)AB033549 AK091932 AK092000 AK223146 AK289636
RefSeq transcript (Entrez)NM_000341
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC3A1
Cluster EST : UnigeneHs.112916 [ NCBI ]
CGAP (NCI)Hs.112916
Alternative Splicing GalleryENSG00000138079
Gene ExpressionSLC3A1 [ NCBI-GEO ]   SLC3A1 [ EBI - ARRAY_EXPRESS ]   SLC3A1 [ SEEK ]   SLC3A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC3A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6519
GTEX Portal (Tissue expression)SLC3A1
Human Protein AtlasENSG00000138079-SLC3A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07837   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07837  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07837
Splice isoforms : SwissVarQ07837
PhosPhoSitePlusQ07837
Domains : Interpro (EBI)Glyco_hydro_13_cat_dom    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Alpha-amylase (PF00128)   
Domain families : Pfam (NCBI)pfam00128   
Domain families : Smart (EMBL)Aamy (SM00642)  
Conserved Domain (NCBI)SLC3A1
DMDM Disease mutations6519
Blocks (Seattle)SLC3A1
SuperfamilyQ07837
Human Protein Atlas [tissue]ENSG00000138079-SLC3A1 [tissue]
Peptide AtlasQ07837
HPRD00090
IPIIPI00029268   IPI00916270   IPI00916937   IPI00917963   IPI00917088   IPI00917362   IPI00916126   IPI00917706   IPI00917577   
Protein Interaction databases
DIP (DOE-UCLA)Q07837
IntAct (EBI)Q07837
FunCoupENSG00000138079
BioGRIDSLC3A1
STRING (EMBL)SLC3A1
ZODIACSLC3A1
Ontologies - Pathways
QuickGOQ07837
Ontology : AmiGOcatalytic activity  protein binding  mitochondrial inner membrane  vacuolar membrane  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  cellular amino acid metabolic process  amino acid transport  amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  L-cystine transmembrane transporter activity  basic amino acid transport  L-cystine transport  membrane  brush border membrane  protein heterodimerization activity  extracellular exosome  basic amino acid transmembrane transport  
Ontology : EGO-EBIcatalytic activity  protein binding  mitochondrial inner membrane  vacuolar membrane  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  cellular amino acid metabolic process  amino acid transport  amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  L-cystine transmembrane transporter activity  basic amino acid transport  L-cystine transport  membrane  brush border membrane  protein heterodimerization activity  extracellular exosome  basic amino acid transmembrane transport  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkSLC3A1
Atlas of Cancer Signalling NetworkSLC3A1
Wikipedia pathwaysSLC3A1
Orthology - Evolution
OrthoDB6519
GeneTree (enSembl)ENSG00000138079
Phylogenetic Trees/Animal Genes : TreeFamSLC3A1
HOVERGENQ07837
HOGENOMQ07837
Homologs : HomoloGeneSLC3A1
Homology/Alignments : Family Browser (UCSC)SLC3A1
Gene fusions - Rearrangements
Tumor Fusion PortalSLC3A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC3A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC3A1
dbVarSLC3A1
ClinVarSLC3A1
1000_GenomesSLC3A1 
Exome Variant ServerSLC3A1
ExAC (Exome Aggregation Consortium)ENSG00000138079
GNOMAD BrowserENSG00000138079
Genetic variants : HAPMAP6519
Genomic Variants (DGV)SLC3A1 [DGVbeta]
DECIPHERSLC3A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC3A1 
Mutations
ICGC Data PortalSLC3A1 
TCGA Data PortalSLC3A1 
Broad Tumor PortalSLC3A1
OASIS PortalSLC3A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC3A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC3A1
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC3A1
DgiDB (Drug Gene Interaction Database)SLC3A1
DoCM (Curated mutations)SLC3A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC3A1 (select a term)
intoGenSLC3A1
Cancer3DSLC3A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104614    220100   
Orphanet17525    17524    19272    12445   
DisGeNETSLC3A1
MedgenSLC3A1
Genetic Testing Registry SLC3A1
NextProtQ07837 [Medical]
TSGene6519
GENETestsSLC3A1
Target ValidationSLC3A1
Huge Navigator SLC3A1 [HugePedia]
snp3D : Map Gene to Disease6519
BioCentury BCIQSLC3A1
ClinGenSLC3A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6519
Chemical/Pharm GKB GenePA35893
Clinical trialSLC3A1
Miscellaneous
canSAR (ICR)SLC3A1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC3A1
EVEXSLC3A1
GoPubMedSLC3A1
iHOPSLC3A1
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 14:35:15 CET 2017

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