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SLC23A1 Gene

protein-coding   GIFtS: 62
GCID: GC05M138702

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

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC23A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7 (See protein sequence)
Recommended Name: Solute carrier family 23 member 1  
Size: 598 amino acids; 64831 Da
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: 

  • Phosphorylated (Probable)1
  • Glycosylation2 at Asn138, Asn144
  • Modification sites at PhosphoSitePlus

  • See SLC23A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000302851   ENSP00000302701   ENSP00000422688   ENSP00000427271  
    Reactome Protein details: Q9UHI7

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with SLC23A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with SLC23A1           About GenesLikeMe


    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 

    Find genes that share phenotypes with SLC23A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc23a1tm1Mlev for SLC23A1

       genOway: Develop your customized and physiologically relevant rodent model for SLC23A1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S23A1_HUMAN, Q9UHI7: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

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

    Find genes that share ontologies with SLC23A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC23A1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Metabolism
    Metabolism0.38
    4Vitamin digestion and absorption
    Vitamin digestion and absorption
    5Disease
    Disease


    Find genes that share SuperPaths with SLC23A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Reactome Pathway for SLC23A1
        Vitamin C (ascorbate) metabolism


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC23A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC23A1

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

    Selected 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): Selected biological process terms (see all 17):    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

    Find genes that share ontologies with SLC23A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    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)



    Find genes that share compounds with SLC23A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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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 

    Selected AceView cDNA sequences (see all 35):

    AW510612 NM_152685 NM_005847 BC050261 AI670840 AW016678 AI628628 BF589912 
    BC019225 BE501825 BE501932 AK092655 AI478520 AW301577 AJ269477 BI762985 
    BF104767 AI367693 BI765047 AI628788 AI334656 AF170911 AI651300 AI934925 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SLC23A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Ovary (Reproductive System)
             Oviduct
    SLC23A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC23A1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC23A1 gene from Selected 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 86.73(n)1
    90.8(a)1
      18 (19.17 cM)5
    205221  NM_011397.41  NP_035527.31 
     356146045 
    chicken
    (Gallus gallus)
    Aves SLC23A11 solute carrier family 23 (nucleobase transporters), more 77.01(n)
    80(a)
      416188  XM_004944768.1  XP_004944825.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC23A16
    solute carrier family 23 (ascorbic acid transporte...
    79(a)
    1 ↔ 1
    1(132035835-132065686)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004936361 solute carrier family 23 member 1-like 65.53(n)
    73.47(a)
      100493636  XM_002932303.2  XP_002932349.2 
    zebrafish
    (Danio rerio)
    Actinopterygii slc23a11 solute carrier family 23 (nucleobase transporters), more 69.65(n)
    76.1(a)
      559435  NM_001173499.1  NP_001166970.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62933 L-ascorbate:sodium symporter 44(a)   86A7   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NAT81 NAT8 43.88(n)
    34.18(a)
      837595  NM_100929.4  NP_172524.1 


    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)
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    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

    Find genes that share paralogs with SLC23A1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC23A1 (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
    ----------
    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--------
    rs1166822281,2
    F--133892892(+) CATTCC/ACCCCC 2 -- ut311Minor allele frequency- A:0.01WA 118

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC23A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC23A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603790    OMIM disorders: --


    Find genes that share disorders with SLC23A1           About GenesLikeMe

    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)
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    PubMed articles for SLC23A1 gene, integrated from 10 sources (see all 68):
    (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. (Nature 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. (Biochim. Biophys. Acta 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. (amp 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. (Am. J. Epidemiol. 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. (Nutr Cancer 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. (J. Invest. Dermatol. 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. (Biochim. Biophys. Acta 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. (Eur. J. Cancer 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. (amp 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. (FEBS Lett. 1999)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 9963 HGNC: 10974 AceView: SLC23A1 Ensembl:ENSG00000170482 euGenes: HUgn9963
    ECgene: SLC23A1 Kegg: 9963 H-InvDB: SLC23A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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