Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC17A5 (solute carrier family 17 member 5)

Identity

Alias_namesSIASD
sialic acid storage disease
solute carrier family 17 (anion/sugar transporter), member 5
solute carrier family 17 (acidic sugar transporter), member 5
Alias_symbol (synonym)AST
SD
ISSD
NSD
SIALIN
SLD
Other alias
HGNC (Hugo) SLC17A5
LocusID (NCBI) 26503
Atlas_Id 54625
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 74303102 and ends at 74363737 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATG12 (5q22.3) / SLC17A5 (6q13)NTAN1 (16p13.11) / SLC17A5 (6q13)

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SLC17A5   10933
Cards
Entrez_Gene (NCBI)SLC17A5  26503  solute carrier family 17 member 5
AliasesAST; ISSD; NSD; SD; 
SIALIN; SIASD; SLD
GeneCards (Weizmann)SLC17A5
Ensembl hg19 (Hinxton)ENSG00000119899 [Gene_View]  chr6:74303102-74363737 [Contig_View]  SLC17A5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000119899 [Gene_View]  chr6:74303102-74363737 [Contig_View]  SLC17A5 [Vega]
ICGC DataPortalENSG00000119899
TCGA cBioPortalSLC17A5
AceView (NCBI)SLC17A5
Genatlas (Paris)SLC17A5
WikiGenes26503
SOURCE (Princeton)SLC17A5
Genetics Home Reference (NIH)SLC17A5
Genomic and cartography
GoldenPath hg19 (UCSC)SLC17A5  -     chr6:74303102-74363737 -  6q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC17A5  -     6q13   [Description]    (hg38-Dec_2013)
EnsemblSLC17A5 - 6q13 [CytoView hg19]  SLC17A5 - 6q13 [CytoView hg38]
Mapping of homologs : NCBISLC17A5 [Mapview hg19]  SLC17A5 [Mapview hg38]
OMIM269920   604322   604369   
Gene and transcription
Genbank (Entrez)AF244577 AJ387747 AK025880 AK026921 AK075320
RefSeq transcript (Entrez)NM_012434
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008272 NT_025741 NW_004929327
Consensus coding sequences : CCDS (NCBI)SLC17A5
Cluster EST : UnigeneHs.597422 [ NCBI ]
CGAP (NCI)Hs.597422
Alternative Splicing GalleryENSG00000119899
Gene ExpressionSLC17A5 [ NCBI-GEO ]   SLC17A5 [ EBI - ARRAY_EXPRESS ]   SLC17A5 [ SEEK ]   SLC17A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC17A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26503
GTEX Portal (Tissue expression)SLC17A5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRA2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRA2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRA2
Splice isoforms : SwissVarQ9NRA2
PhosPhoSitePlusQ9NRA2
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)MFS    MFS_dom   
Domain families : Pfam (Sanger)MFS_1 (PF07690)   
Domain families : Pfam (NCBI)pfam07690   
Conserved Domain (NCBI)SLC17A5
DMDM Disease mutations26503
Blocks (Seattle)SLC17A5
SuperfamilyQ9NRA2
Human Protein AtlasENSG00000119899
Peptide AtlasQ9NRA2
HPRD05058
IPIIPI00411564   IPI01013750   IPI00395808   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRA2
IntAct (EBI)Q9NRA2
FunCoupENSG00000119899
BioGRIDSLC17A5
STRING (EMBL)SLC17A5
ZODIACSLC17A5
Ontologies - Pathways
QuickGOQ9NRA2
Ontology : AmiGOsugar:proton symporter activity  cytoplasm  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  ion transport  anion transport  amino acid transport  sialic acid transmembrane transporter activity  sialic acid:proton symporter activity  sialic acid transport  proton transport  membrane  cell junction  synaptic vesicle membrane  carboxylic acid transmembrane transport  carboxylic acid transmembrane transport  
Ontology : EGO-EBIsugar:proton symporter activity  cytoplasm  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  ion transport  anion transport  amino acid transport  sialic acid transmembrane transporter activity  sialic acid:proton symporter activity  sialic acid transport  proton transport  membrane  cell junction  synaptic vesicle membrane  carboxylic acid transmembrane transport  carboxylic acid transmembrane transport  
Pathways : KEGGLysosome   
NDEx NetworkSLC17A5
Atlas of Cancer Signalling NetworkSLC17A5
Wikipedia pathwaysSLC17A5
Orthology - Evolution
OrthoDB26503
GeneTree (enSembl)ENSG00000119899
Phylogenetic Trees/Animal Genes : TreeFamSLC17A5
HOVERGENQ9NRA2
HOGENOMQ9NRA2
Homologs : HomoloGeneSLC17A5
Homology/Alignments : Family Browser (UCSC)SLC17A5
Gene fusions - Rearrangements
Fusion : MitelmanNTAN1/SLC17A5 [16p13.11/6q13]  [t(6;16)(q13;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC17A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC17A5
dbVarSLC17A5
ClinVarSLC17A5
1000_GenomesSLC17A5 
Exome Variant ServerSLC17A5
ExAC (Exome Aggregation Consortium)SLC17A5 (select the gene name)
Genetic variants : HAPMAP26503
Genomic Variants (DGV)SLC17A5 [DGVbeta]
DECIPHER (Syndromes)6:74303102-74363737  ENSG00000119899
CONAN: Copy Number AnalysisSLC17A5 
Mutations
ICGC Data PortalSLC17A5 
TCGA Data PortalSLC17A5 
Broad Tumor PortalSLC17A5
OASIS PortalSLC17A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC17A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC17A5
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 SLC17A5
DgiDB (Drug Gene Interaction Database)SLC17A5
DoCM (Curated mutations)SLC17A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC17A5 (select a term)
intoGenSLC17A5
Cancer3DSLC17A5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM269920    604322    604369   
Orphanet21372    21373    21374   
MedgenSLC17A5
Genetic Testing Registry SLC17A5
NextProtQ9NRA2 [Medical]
TSGene26503
GENETestsSLC17A5
Huge Navigator SLC17A5 [HugePedia]
snp3D : Map Gene to Disease26503
BioCentury BCIQSLC17A5
ClinGenSLC17A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26503
Chemical/Pharm GKB GenePA35824
Clinical trialSLC17A5
Miscellaneous
canSAR (ICR)SLC17A5 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC17A5
EVEXSLC17A5
GoPubMedSLC17A5
iHOPSLC17A5
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 Mar 14 13:27:31 CET 2017

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