Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SLC7A5 (solute carrier family 7 member 5)

Identity

Alias_namessolute carrier family 7 (amino acid transporter light chain
Alias_symbol (synonym)LAT1
E16
D16S469E
MPE16
CD98
Other alias4F2LC
HGNC (Hugo) SLC7A5
LocusID (NCBI) 8140
Atlas_Id 42327
Location 16q24.2  [Link to chromosome band 16q24]
Location_base_pair Starts at 87830016 and ends at 87869499 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)
BANP (16q24.2) / SLC7A5 (16q24.2)SLC7A5 (16q24.2) / CA5A (16q24.2)SLC7A5 (16q24.2) / HLA-DPB1 (6p21.32)
SLC7A5 (16q24.2) / KDM6A (Xp11.3)SLC7A5 (16q24.2) / ZNF76 (6p21.31)ZFPM1 (16q24.2) / SLC7A5 (16q24.2)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(16;22)(q24;q13) PIM3/SLC7A5

External links

Nomenclature
HGNC (Hugo)SLC7A5   11063
Cards
Entrez_Gene (NCBI)SLC7A5  8140  solute carrier family 7 member 5
Aliases4F2LC; CD98; D16S469E; E16; 
LAT1; MPE16
GeneCards (Weizmann)SLC7A5
Ensembl hg19 (Hinxton)ENSG00000103257 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103257 [Gene_View]  ENSG00000103257 [Sequence]  chr16:87830016-87869499 [Contig_View]  SLC7A5 [Vega]
ICGC DataPortalENSG00000103257
TCGA cBioPortalSLC7A5
AceView (NCBI)SLC7A5
Genatlas (Paris)SLC7A5
WikiGenes8140
SOURCE (Princeton)SLC7A5
Genetics Home Reference (NIH)SLC7A5
Genomic and cartography
GoldenPath hg38 (UCSC)SLC7A5  -     chr16:87830016-87869499 -  16q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC7A5  -     16q24.2   [Description]    (hg19-Feb_2009)
EnsemblSLC7A5 - 16q24.2 [CytoView hg19]  SLC7A5 - 16q24.2 [CytoView hg38]
Mapping of homologs : NCBISLC7A5 [Mapview hg19]  SLC7A5 [Mapview hg38]
OMIM600182   
Gene and transcription
Genbank (Entrez)AB017908 AB018009 AB018542 AF077866 AF104032
RefSeq transcript (Entrez)NM_003486
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC7A5
Cluster EST : UnigeneHs.513797 [ NCBI ]
CGAP (NCI)Hs.513797
Alternative Splicing GalleryENSG00000103257
Gene ExpressionSLC7A5 [ NCBI-GEO ]   SLC7A5 [ EBI - ARRAY_EXPRESS ]   SLC7A5 [ SEEK ]   SLC7A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC7A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8140
GTEX Portal (Tissue expression)SLC7A5
Human Protein AtlasENSG00000103257-SLC7A5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01650   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01650  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01650
Splice isoforms : SwissVarQ01650
PhosPhoSitePlusQ01650
Domains : Interpro (EBI)AA/rel_permease1    L_AA_transporter   
Domain families : Pfam (Sanger)AA_permease_2 (PF13520)   
Domain families : Pfam (NCBI)pfam13520   
Conserved Domain (NCBI)SLC7A5
DMDM Disease mutations8140
Blocks (Seattle)SLC7A5
SuperfamilyQ01650
Human Protein Atlas [tissue]ENSG00000103257-SLC7A5 [tissue]
Peptide AtlasQ01650
HPRD02552
IPIIPI00008986   
Protein Interaction databases
DIP (DOE-UCLA)Q01650
IntAct (EBI)Q01650
FunCoupENSG00000103257
BioGRIDSLC7A5
STRING (EMBL)SLC7A5
ZODIACSLC7A5
Ontologies - Pathways
QuickGOQ01650
Ontology : AmiGOamino acid transmembrane transport  protein binding  cytosol  plasma membrane  plasma membrane  cellular amino acid metabolic process  nervous system development  amino acid transmembrane transporter activity  neutral amino acid transmembrane transporter activity  L-amino acid transmembrane transporter activity  neutral amino acid transport  membrane  integral component of membrane  apical plasma membrane  cell differentiation  peptide antigen binding  intracellular membrane-bounded organelle  leukocyte migration  extracellular exosome  L-alpha-amino acid transmembrane transport  
Ontology : EGO-EBIamino acid transmembrane transport  protein binding  cytosol  plasma membrane  plasma membrane  cellular amino acid metabolic process  nervous system development  amino acid transmembrane transporter activity  neutral amino acid transmembrane transporter activity  L-amino acid transmembrane transporter activity  neutral amino acid transport  membrane  integral component of membrane  apical plasma membrane  cell differentiation  peptide antigen binding  intracellular membrane-bounded organelle  leukocyte migration  extracellular exosome  L-alpha-amino acid transmembrane transport  
NDEx NetworkSLC7A5
Atlas of Cancer Signalling NetworkSLC7A5
Wikipedia pathwaysSLC7A5
Orthology - Evolution
OrthoDB8140
GeneTree (enSembl)ENSG00000103257
Phylogenetic Trees/Animal Genes : TreeFamSLC7A5
HOVERGENQ01650
HOGENOMQ01650
Homologs : HomoloGeneSLC7A5
Homology/Alignments : Family Browser (UCSC)SLC7A5
Gene fusions - Rearrangements
Fusion Cancer (Beijing)SLC7A5 [16q24.2]  -  HLA-DPB1 [6p21.32]  [FUSC000117]
Fusion : QuiverSLC7A5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC7A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC7A5
dbVarSLC7A5
ClinVarSLC7A5
1000_GenomesSLC7A5 
Exome Variant ServerSLC7A5
ExAC (Exome Aggregation Consortium)ENSG00000103257
GNOMAD BrowserENSG00000103257
Varsome BrowserSLC7A5
Genetic variants : HAPMAP8140
Genomic Variants (DGV)SLC7A5 [DGVbeta]
DECIPHERSLC7A5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC7A5 
Mutations
ICGC Data PortalSLC7A5 
TCGA Data PortalSLC7A5 
Broad Tumor PortalSLC7A5
OASIS PortalSLC7A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC7A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC7A5
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 SLC7A5
DgiDB (Drug Gene Interaction Database)SLC7A5
DoCM (Curated mutations)SLC7A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC7A5 (select a term)
intoGenSLC7A5
Cancer3DSLC7A5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600182   
Orphanet
DisGeNETSLC7A5
MedgenSLC7A5
Genetic Testing Registry SLC7A5
NextProtQ01650 [Medical]
TSGene8140
GENETestsSLC7A5
Target ValidationSLC7A5
Huge Navigator SLC7A5 [HugePedia]
snp3D : Map Gene to Disease8140
BioCentury BCIQSLC7A5
ClinGenSLC7A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8140
Chemical/Pharm GKB GenePA35923
Clinical trialSLC7A5
Miscellaneous
canSAR (ICR)SLC7A5 (select the gene name)
Probes
Litterature
PubMed143 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC7A5
EVEXSLC7A5
GoPubMedSLC7A5
iHOPSLC7A5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:40:15 CET 2018
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