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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC23A1 Gene

protein-coding   GIFtS: 61
GCID: GC05M138702

Solute Carrier Family 23 (Ascorbic Acid Transporter), Member...

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 23 (Ascorbic Acid Transporter), Member 11 2     YSPL32 3
SVCT12 3 5     hSVCT12 3
SLC23A21 2     Na(+)/L-Ascorbic Acid Transporter 12 3
Solute Carrier Family 23 (Nucleobase Transporters), Member 21 2     Sodium-Dependent Vitamin C Transporter-12
Sodium-Dependent Vitamin C Transporter 12 3     Solute Carrier Family 23 (Nucleobase Transporters), Member 12
Yolk Sac Permease-Like Molecule 32 3     Solute Carrier Family 23 Member 12

External Ids:    HGNC: 109741   Entrez Gene: 99632   Ensembl: ENSG000001704827   OMIM: 6037905   UniProtKB: Q9UHI73   

Export aliases for SLC23A1 gene to outside databases

Previous GC identifers: GC20M004823 GC05M139377 GC05M138733 GC05M138779 GC05M138730 GC05M133892


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC23A1 Gene:
The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C
transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C
transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec
2008)

GeneCards Summary for SLC23A1 Gene: 
SLC23A1 (solute carrier family 23 (ascorbic acid transporter), member 1) is a protein-coding gene. Diseases associated with SLC23A1 include mature cataract, and choroid plexus papilloma, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and PAK Pathway. GO annotations related to this gene include L-ascorbate:sodium symporter activity and sodium ion transmembrane transporter activity. An important paralog of this gene is SLC23A2.

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7
Function: Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2
Na(+) for each ascorbate

Gene Wiki entry for SLC23A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC23A1 gene promoter:
         NF-1/L   HNF-4alpha2   AP-2gamma   LCR-F1   HNF-4alpha1   GATA-2   c-Ets-1   MZF-1   HSF2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC23A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC23A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC23A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.2

SLC23A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC23A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M138702:  view genomic region     (about GC identifiers)

Start:
138,702,885 bp from pter      End:
138,720,242 bp from pter
Size:
17,358 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7 (See protein sequence)
Recommended Name: Solute carrier family 23 member 1  
Size: 598 amino acids; 64831 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Miscellaneous: Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate
accumulation in transfected cells
Secondary accessions: O95191 Q8WWB6 Q9UGH4 Q9UI39
Alternative splicing: 3 isoforms:  Q9UHI7-1   Q9UHI7-2   Q9UHI7-3   (Inactive)

Explore the universe of human proteins at neXtProt for SLC23A1: NX_Q9UHI7

Explore proteomics data for SLC23A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHI7

  • SLC23A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC23A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005838.3  NP_689898.2  

    ENSEMBL proteins: 
     ENSP00000302851   ENSP00000302701   ENSP00000422688   ENSP00000427271  
    Reactome Protein details: Q9UHI7
    Human Recombinant Protein Products for SLC23A1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10395795
    GO:0005903brush border IEA--
    GO:0009925basal plasma membrane IEA--

    SLC23A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium-dependent vitamin C transporter 1 
    SLC23 family of ascorbic acid transporters

    1 InterPro protein domain:
     IPR006043 Xant/urac/vitC

    Graphical View of Domain Structure for InterPro Entry Q9UHI7

    ProtoNet protein and cluster: Q9UHI7

    UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7
    Similarity: Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40)
    subfamily


    SLC23A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S23A1_HUMAN, Q9UHI7
    Function: Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2
    Na(+) for each ascorbate

         Genatlas biochemistry entry for SLC23A1:
    solute carrier family 23,member 1 (nucleobase transport),expressed in a host of metabolically active cells and
    specialized tissues in the brain,eye and other organs

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005515protein binding IPI17474147
    GO:0008520L-ascorbate:sodium symporter activity IDA18094143
    GO:0015081sodium ion transmembrane transporter activity IDA18094143
    GO:0015205nucleobase transmembrane transporter activity TAS10395795
         
    SLC23A1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc23a1):
     behavior/neurological  digestive/alimentary  homeostasis/metabolism  mortality/aging  other 
     renal/urinary system 

    SLC23A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc23a1tm1Mlev for SLC23A1

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC23A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Metabolism
    Metabolism0.40
    4Vitamin digestion and absorption
    Vitamin digestion and absorption
    5Vitamin C (ascorbate) metabolism
    Vitamin C (ascorbate) metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC23A1
        Antioxidant Action of Vitamin-C

    4        Reactome Pathways for SLC23A1
        Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors
    Vitamin C (ascorbate) metabolism


    1         Kegg Pathway  (Kegg details for SLC23A1):
        Vitamin digestion and absorption


    SLC23A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC23A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SLC23A1 (Q9UHI71, 3 ENSP000003028514) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1759386,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    GLIPR2Q9H4G43I2D: score=5 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS9804989
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport ----
    GO:0006814sodium ion transport IDA18094143

    SLC23A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC23A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC23A1 (S23A1)

    2 HMDB Compounds for SLC23A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC23A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17664139 17008880 17258485 17541511 17645691
    transporter--17664139 17008880 17258485 17541511 17645691 10331392

    2 IUPHAR Ligands for SLC23A1 (Sodium-dependent vitamin C transporter 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [14C]ascorbic acid
    NoneNone--
    phloretin
    InhibitorInhibition10331392

    3 Novoseek inferred chemical compound relationships for SLC23A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dehydroascorbic acid 83.5 4 16011461 (1), 15060139 (1)
    ascorbic acid 81.3 90 17664139 (5), 11895172 (3), 17008880 (3), 18845575 (3) (see all 29)
    glucose 8.8 1 15060139 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC23A1 / S23A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC23A1 gene (2 alternative transcripts): 
    NM_005847.4  NM_152685.3  

    Unigene Cluster for SLC23A1:

    Solute carrier family 23 (nucleobase transporters), member 1
    Hs.643467  [show with all ESTs]
    Unigene Representative Sequence: NM_152685
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353963(uc003leg.3) ENST00000348729(uc003leh.3) ENST00000504513
    ENST00000506512 ENST00000503919 ENST00000502863 ENST00000508270
    Congresses - knowledge worth sharing:  
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    Additional mRNA sequence: 

    AF058317.1 AF098277.1 AF170911.1 AJ250807.1 AJ269477.1 AK092655.1 AK290789.1 AK298337.1 
    AK300935.1 BC019225.1 BC050261.1 

    6 DOTS entries:

    DT.432915  DT.120877529  DT.92420424  DT.120877481  DT.120877513  DT.92420425 

    24/35 AceView cDNA sequences (see all 35):

    AK092655 AI670840 AJ269477 AI628628 NM_152685 BF589912 BC050261 NM_005847 
    AW510612 BE501932 AW301577 AW016678 BC019225 AI478520 BE501825 AI651300 
    AI628788 AJ250807 AI816779 AW418946 AI766960 BI764817 BF104767 AI367693 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                      -                             -                 -                                                               
    SP2:                                      -                             -                                                                                 
    SP3:                                      -                                                                                                               
    SP4:        -     -     -                 -                                                                                                               
    SP5:                                      -                                                                                                               


    ECgene alternative splicing isoforms for SLC23A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC23A1 expression in normal human tissues (normalized intensities)      SLC23A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAAGAAAA
    SLC23A1 Expression
    About this image


    SLC23A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             kidney ; cells in tubules   
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 7 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
             colon ; peripheral nerve/ganglion   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   

    See SLC23A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC23A1

    SOURCE GeneReport for Unigene cluster: Hs.643467

    UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7
    Tissue specificity: Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver,
    and in fetal kidney, liver and thymus

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC23A1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc23a11 , 5 solute carrier family 23 (nucleobase transporters), more1, 5 86.79(n)1
    90.8(a)1
      18 (19.17 cM)5
    205221  NM_011397.41  NP_035527.31 
     356146045 
    chicken
    (Gallus gallus)
    Aves SLC23A16
    Uncharacterized protein
    77(a)
    1 ↔ 1
    13(1808718-1812108)
    lizard
    (Anolis carolinensis)
    Reptilia SLC23A16
    solute carrier family 23 (nucleobase transporters)...
    79(a)
    1 ↔ 1
    1(132035835-132065686)
    zebrafish
    (Danio rerio)
    Actinopterygii slc23a11 solute carrier family 23 (nucleobase transporters), more 69.96(n)
    76.86(a)
      559435  NM_001173499.1  NP_001166970.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C51E3.63 Mouse YSPL-1 protein like 35(a)
    (best of 6)
      V(10166848-10169044)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PDE1351 nucleobase-ascorbate transporter 3 45.56(n)
    35.11(a)
      817192  NM_128208.4  NP_180219.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05839001 hypothetical protein 46.43(n)
    34.87(a)
      4352654  NM_001073681.1  NP_001067149.1 


    ENSEMBL Gene Tree for SLC23A1 (if available)
    TreeFam Gene Tree for SLC23A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC23A1 gene
    SLC23A22  SLC23A32  
    3 SIMAP similar genes for SLC23A1 using alignment to 3 protein entries:     S23A1_HUMAN (see all proteins):
    SLC23A2    LOC392993    SLC23A3

    SLC23A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC23A1
    PGOHUM00000263173


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/405 SNPs in SLC23A1 are shown (see all 405)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0621114
    ----see VAR_0621112 S A mis40--------
    rs1389641631,2
    --133892145(+) TGATAC/TTACTT 2 -- ds50010--------
    rs725522481,2
    C,F--133892513(-) TTAAGA/GAAAAA 2 -- ds50017Minor allele frequency- G:0.06MN WA 524
    rs1494306391,2
    C--133892526(+) TTCACA/CCTTTT 2 -- ds50010--------
    rs1836573421,2
    --133892537(+) AAAATA/GTAGAT 2 -- ds50010--------
    rs1448157851,2
    --133892650(+) TATGCA/GTTAGT 2 -- ut310--------
    rs725522491,2
    C,F--133892652(-) AGACTA/GATGCA 2 -- ut315Minor allele frequency- G:0.01MN 404
    rs732552681,2
    C,F--133892749(+) TTTTTT/ATCAAC 2 -- ut312Minor allele frequency- A:0.05WA 120
    rs747046741,2
    C--133892808(+) ATGCTG/AACAAG 2 -- ut312Minor allele frequency- A:0.04CSA WA 120
    rs1419286691,2
    --133892868(+) GTCTCC/TAAGAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC23A1 (138702885 - 138720242 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC23A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv28262CNV Gain19812545


    Human Gene Mutation Database (HGMD): SLC23A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603790    OMIM disorders: --

    19 diseases for SLC23A1:    About MalaCards
    mature cataract    choroid plexus papilloma    esophageal adenocarcinoma    papilloma
    choroiditis    cholestasis    cataract    cholera
    pneumonia    neuroblastoma    gastric cancer    liver disease
    adenoma    esophagitis    adenocarcinoma    lung cancer
    neuronitis    hepatitis    prostatitis


    SLC23A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC23A1
    Human Genome Epidemiology (HuGE) Navigator: SLC23A1 (16 documents)

    Export disorders for SLC23A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC23A1 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with SLC23A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of mammalian Na+-dependent L-ascorbic acid transporters. (PubMed id 10331392)1, 3, 7 Tsukaguchi H....Hediger M.A. (1999)
    2. Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters. (PubMed id 9804989)1, 2, 3 Faaland C.A....Holtzman E.J. (1998)
    3. Sodium-dependent vitamin C transporter isoforms in skin: Distribution, kinetics, and effect of UVB-induced oxidative stress. (PubMed id 17664139)1, 7, 9 Steiling H....Williamson G. (2007)
    4. Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery. (PubMed id 16357110)1, 4, 9 Erichsen H.C....Chanock S.J. (2006)
    5. Genetic variation in sodium-dependent vitamin C transporters SLC23A1 and SLC23A2 and risk of advanced colorectal adenoma. (PubMed id 18791929)1, 4, 9 Erichsen H.C....Chanock S. (2008)
    6. Regulation of UVB-induced IL-8 and MCP-1 production in skin keratinocytes by increasing vitamin C uptake via the redistribution of SVCT-1 from the cytosol to the membrane. (PubMed id 17008880)1, 7, 9 Kang J.S....Lee W.J. (2007)
    7. Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non- functional splice variant. (PubMed id 10556483)1, 2, 9 Wang H....Prasad P.D. (1999)
    8. Genetic variation in sodium-dependent ascorbic acid transporters and risk of gastric cancer in Poland. (PubMed id 19243932)1, 4, 9 Wright M.E....Hou L. (2009)
    9. Vitamin C transport and SVCT1 transporter expression in chick renal proximal tubule cells in culture. (PubMed id 17258485)1, 7, 9 Johnston L. and Laverty G. (2007)
    10. Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. (PubMed id 10556521)1, 2, 9 Daruwala R.C.... Levine M. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9963 HGNC: 10974 AceView: SLC23A1 Ensembl:ENSG00000170482 euGenes: HUgn9963
    ECgene: SLC23A1 Kegg: 9963 H-InvDB: SLC23A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC23A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC23A1 gene:
    Search GeneIP for patents involving SLC23A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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