Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC23A1 (solute carrier family 23 member 1)

Identity

Alias_namesSLC23A2
solute carrier family 23 (nucleobase transporters), member 2
solute carrier family 23 (ascorbic acid transporter), member 1
Alias_symbol (synonym)YSPL3
SVCT1
Other alias
HGNC (Hugo) SLC23A1
LocusID (NCBI) 9963
Atlas_Id 47612
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 139367196 and ends at 139383350 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)

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)SLC23A1   10974
Cards
Entrez_Gene (NCBI)SLC23A1  9963  solute carrier family 23 member 1
AliasesSLC23A2; SVCT1; YSPL3
GeneCards (Weizmann)SLC23A1
Ensembl hg19 (Hinxton)ENSG00000170482 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170482 [Gene_View]  chr5:139367196-139383350 [Contig_View]  SLC23A1 [Vega]
ICGC DataPortalENSG00000170482
TCGA cBioPortalSLC23A1
AceView (NCBI)SLC23A1
Genatlas (Paris)SLC23A1
WikiGenes9963
SOURCE (Princeton)SLC23A1
Genetics Home Reference (NIH)SLC23A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC23A1  -     chr5:139367196-139383350 -  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC23A1  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblSLC23A1 - 5q31.2 [CytoView hg19]  SLC23A1 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBISLC23A1 [Mapview hg19]  SLC23A1 [Mapview hg38]
OMIM603790   
Gene and transcription
Genbank (Entrez)AF058317 AF098277 AF170911 AI478520 AJ250807
RefSeq transcript (Entrez)NM_005847 NM_152685
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC23A1
Cluster EST : UnigeneHs.643467 [ NCBI ]
CGAP (NCI)Hs.643467
Alternative Splicing GalleryENSG00000170482
Gene ExpressionSLC23A1 [ NCBI-GEO ]   SLC23A1 [ EBI - ARRAY_EXPRESS ]   SLC23A1 [ SEEK ]   SLC23A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC23A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9963
GTEX Portal (Tissue expression)SLC23A1
Human Protein AtlasENSG00000170482-SLC23A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHI7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHI7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHI7
Splice isoforms : SwissVarQ9UHI7
PhosPhoSitePlusQ9UHI7
Domains : Interpro (EBI)SLC23A1    Xant/urac/vitC   
Domain families : Pfam (Sanger)Xan_ur_permease (PF00860)   
Domain families : Pfam (NCBI)pfam00860   
Conserved Domain (NCBI)SLC23A1
DMDM Disease mutations9963
Blocks (Seattle)SLC23A1
SuperfamilyQ9UHI7
Human Protein Atlas [tissue]ENSG00000170482-SLC23A1 [tissue]
Peptide AtlasQ9UHI7
HPRD04810
IPIIPI00303368   IPI00220368   IPI00220369   IPI00942662   IPI00908615   IPI00963896   IPI00966049   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHI7
IntAct (EBI)Q9UHI7
FunCoupENSG00000170482
BioGRIDSLC23A1
STRING (EMBL)SLC23A1
ZODIACSLC23A1
Ontologies - Pathways
QuickGOQ9UHI7
Ontology : AmiGOprotein binding  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  nucleobase-containing compound metabolic process  sodium ion transport  brain development  L-ascorbate:sodium symporter activity  response to toxic substance  basal plasma membrane  sodium ion transmembrane transporter activity  nucleobase transmembrane transporter activity  L-ascorbic acid transporter activity  L-ascorbic acid transporter activity  nucleobase transport  L-ascorbic acid transport  membrane  apical plasma membrane  L-ascorbic acid metabolic process  lung development  dehydroascorbic acid transporter activity  vitamin transmembrane transport  sodium ion transmembrane transport  intracellular organelle  extracellular exosome  dehydroascorbic acid transport  sodium-dependent L-ascorbate transmembrane transporter activity  transepithelial L-ascorbic acid transport  carboxylic acid transmembrane transport  
Ontology : EGO-EBIprotein binding  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  nucleobase-containing compound metabolic process  sodium ion transport  brain development  L-ascorbate:sodium symporter activity  response to toxic substance  basal plasma membrane  sodium ion transmembrane transporter activity  nucleobase transmembrane transporter activity  L-ascorbic acid transporter activity  L-ascorbic acid transporter activity  nucleobase transport  L-ascorbic acid transport  membrane  apical plasma membrane  L-ascorbic acid metabolic process  lung development  dehydroascorbic acid transporter activity  vitamin transmembrane transport  sodium ion transmembrane transport  intracellular organelle  extracellular exosome  dehydroascorbic acid transport  sodium-dependent L-ascorbate transmembrane transporter activity  transepithelial L-ascorbic acid transport  carboxylic acid transmembrane transport  
Pathways : BIOCARTAVitamin C in the Brain [Genes]   
Pathways : KEGGVitamin digestion and absorption   
NDEx NetworkSLC23A1
Atlas of Cancer Signalling NetworkSLC23A1
Wikipedia pathwaysSLC23A1
Orthology - Evolution
OrthoDB9963
GeneTree (enSembl)ENSG00000170482
Phylogenetic Trees/Animal Genes : TreeFamSLC23A1
HOVERGENQ9UHI7
HOGENOMQ9UHI7
Homologs : HomoloGeneSLC23A1
Homology/Alignments : Family Browser (UCSC)SLC23A1
Gene fusions - Rearrangements
Tumor Fusion PortalSLC23A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC23A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC23A1
dbVarSLC23A1
ClinVarSLC23A1
1000_GenomesSLC23A1 
Exome Variant ServerSLC23A1
ExAC (Exome Aggregation Consortium)ENSG00000170482
GNOMAD BrowserENSG00000170482
Genetic variants : HAPMAP9963
Genomic Variants (DGV)SLC23A1 [DGVbeta]
DECIPHERSLC23A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC23A1 
Mutations
ICGC Data PortalSLC23A1 
TCGA Data PortalSLC23A1 
Broad Tumor PortalSLC23A1
OASIS PortalSLC23A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC23A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC23A1
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 SLC23A1
DgiDB (Drug Gene Interaction Database)SLC23A1
DoCM (Curated mutations)SLC23A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC23A1 (select a term)
intoGenSLC23A1
Cancer3DSLC23A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603790   
Orphanet
DisGeNETSLC23A1
MedgenSLC23A1
Genetic Testing Registry SLC23A1
NextProtQ9UHI7 [Medical]
TSGene9963
GENETestsSLC23A1
Target ValidationSLC23A1
Huge Navigator SLC23A1 [HugePedia]
snp3D : Map Gene to Disease9963
BioCentury BCIQSLC23A1
ClinGenSLC23A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9963
Chemical/Pharm GKB GenePA35850
Clinical trialSLC23A1
Miscellaneous
canSAR (ICR)SLC23A1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC23A1
EVEXSLC23A1
GoPubMedSLC23A1
iHOPSLC23A1
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 14:34:56 CET 2017

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