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

SLC23A3 Gene

protein-coding   GIFtS: 45
GCID: GC02M219940

Solute Carrier Family 23, Member 3

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, Member 31 2     Na(+)/L-Ascorbic Acid Transporter 32 3
Sodium-Dependent Vitamin C Transporter 32 3     Yspl12
E2BP32 3     E2-Binding Protein 32
SVCT32 3     Solute Carrier Family 23 (Nucleobase Transporters), Member 32
HPC E2-Binding Protein 32 3     Solute Carrier Family 23 Member 32

External Ids:    HGNC: 206011   Entrez Gene: 1512952   Ensembl: ENSG000002139017   UniProtKB: Q6PIS13   

Export aliases for SLC23A3 gene to outside databases

Previous GC identifers: GC02M218662 GC02M219905 GC02M220143 GC02M220228 GC02M219766 GC02M219851 GC02M219649 GC02M211879


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

GeneCards Summary for SLC23A3 Gene: 
SLC23A3 (solute carrier family 23, member 3) is a protein-coding gene. Diseases associated with SLC23A3 include juvenile myoclonic epilepsy, and pneumonia. GO annotations related to this gene include transporter activity. An important paralog of this gene is SLC23A1.


(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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC23A3 gene promoter:
         AhR   E47   FOXL1   Egr-4   YY1   AREB6   POU2F1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC23A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC23A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC23A3


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

SLC23A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC23A3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219940:  view genomic region     (about GC identifiers)

Start:
219,940,051 bp from pter      End:
220,035,549 bp from pter
Size:
95,499 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: S23A3_HUMAN, Q6PIS1 (See protein sequence)
Recommended Name: Solute carrier family 23 member 3  
Size: 610 amino acids; 64531 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=ABC17635.1; Type=Miscellaneous discrepancy; Note=Fragment of a potential novel isoform;
Sequence=BAB70999.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B7Z512 Q2PYN6 Q96NA6
Alternative splicing: 3 isoforms:  Q6PIS1-1   Q6PIS1-2   Q6PIS1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC23A3: NX_Q6PIS1

Explore proteomics data for SLC23A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PIS1

  • SLC23A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC23A3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138361.1  NP_001138362.1  NP_653313.3  

    ENSEMBL proteins: 
     ENSP00000320919   ENSP00000295738   ENSP00000386473   ENSP00000406546   ENSP00000404697  
     ENSP00000386989   ENSP00000388907   ENSP00000393192   ENSP00000379996  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC23A3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SLC23A3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for SLC23A3 
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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 3 
    SLC23 family of ascorbic acid transporters

    1 InterPro protein domain:
     IPR006043 Xant/urac/vitC

    Graphical View of Domain Structure for InterPro Entry Q6PIS1

    ProtoNet protein and cluster: Q6PIS1

    UniProtKB/Swiss-Prot: S23A3_HUMAN, Q6PIS1
    Similarity: Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40)
    subfamily


    SLC23A3 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
         
    SLC23A3 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC23A3 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC23A3


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC23A3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC23A3 (Q6PIS13 ENSP000004065464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGF1RP080693, ENSP000002680354I2D: score=1 STRING: ENSP00000268035
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0055085transmembrane transport IEA--

    SLC23A3 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC23A3 (S23A3)

    1 HMDB Compound for SLC23A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--

    Search CenterWatch for drugs/clinical trials and news about SLC23A3 / S23A3

    (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 SLC23A3 gene (3 alternative transcripts): 
    NM_001144889.1  NM_001144890.1  NM_144712.4  

    Unigene Cluster for SLC23A3:

    Solute carrier family 23 (nucleobase transporters), member 3
    Hs.124565  [show with all ESTs]
    Unigene Representative Sequence: NM_001144890
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498327(uc002vjq.4) ENST00000318673(uc002vjs.1) ENST00000295738(uc010zks.2 uc010fwb.3)
    ENST00000409878 ENST00000455516(uc010zkr.2) ENST00000497918 ENST00000414999(uc002vjt.1)
    ENST00000409370 ENST00000465580 ENST00000430764 ENST00000421779 ENST00000461812
    ENST00000396775
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC23A3 (see all 10):
    hsa-miR-4300 hsa-miR-10b hsa-miR-1257 hsa-miR-766 hsa-miR-504 hsa-miR-10a hsa-miR-920 hsa-miR-3200-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC23A3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK298256.1 AK298277.1 BC030243.1 DQ294736.1 DQ294737.1 

    7 DOTS entries:

    DT.404211  DT.95265595  DT.100755276  DT.100755274  DT.101983042  DT.91659424  DT.97789701 

    24/81 AceView cDNA sequences (see all 81):

    AK055730 AW156986 AK091919 AK125121 BC012732 CA436271 CA436268 CB134508 
    BX280520 AA515515 BX280407 BF591227 CR596901 AW296385 AI263078 BC008210 
    AI734010 BQ071822 AI373870 BQ007134 BX108647 BU656083 AW069512 BG696101 

    GeneLoc Exon Structure


    (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

    SLC23A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC23A3 Expression
    About this image


    See SLC23A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC23A3

    SOURCE GeneReport for Unigene cluster: Hs.124565
        SABiosciences Custom PCR Arrays for SLC23A3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC23A3

    (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 animals.

    Orthologs for SLC23A3 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc23a31 , 5 solute carrier family 23 (nucleobase transporters), more1, 5 82.43(n)1
    78.91(a)1
      1 (38.60 cM)5
    226261  NM_194333.31  NP_919314.21 
     751255445 
    chicken
    (Gallus gallus)
    Aves SLC23A31 solute carrier family 23 (nucleobase transporters), more 61.3(n)
    55.58(a)
      429039  XM_426596.3  XP_426596.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC23A36
    Uncharacterized protein
    44(a)
    1 ↔ 1
    1(88179178-88191938)
    zebrafish
    (Danio rerio)
    Actinopterygii slc23a36
    solute carrier family 23 (nucleobase transporters)...
    39(a)
    1 ↔ 1
    9(7413478-7439185)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62936
    --
    25(a)
    1 ↔ 1
    3R(6133984-6137317)


    ENSEMBL Gene Tree for SLC23A3 (if available)
    TreeFam Gene Tree for SLC23A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC23A3 gene
    SLC23A12  SLC23A22  
    3 SIMAP similar genes for SLC23A3 using alignment to 7 protein entries:     S23A3_HUMAN (see all proteins):
    E2BP3    SLC23A1    SLC23A2

    SLC23A3 for paralogs           About GeneDecksing



    (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

    10/194 SNPs in SLC23A3 are shown (see all 194)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928034731,2
    --220027616(+) CTCCAC/GACATT 3 -- int10--------
    rs1444610291,2
    --220027662(+) GAGAAC/TTGGGT 3 -- int10--------
    rs1464221481,2
    C--220027764(+) ATGAC-/CTTCTTCT 3 -- int10--------
    rs1844455221,2
    --220027868(+) TGTAGC/GTCTTT 3 -- int10--------
    rs1465506111,2
    --220027933(+) AATAAC/TGGAAG 3 -- int10--------
    rs799810551,2
    F--220027934(+) ATAACA/GGAAGG 3 -- int10--------
    rs1409200511,2
    --220027989(+) TGTTAA/GACAAA 3 -- int10--------
    rs2014750921,2
    C--220028117(+) GTGCTA/GAACAG 6 F syn10--------
    rs2002488681,2
    C--220028137(+) TTCCCA/G/TAAACC 9 R W syn1 mis11EU 1311
    rs1927560701,2
    C--220028192(+) AAGATA/TTTTCG 6 K N mis10--------

    HapMap Linkage Disequilibrium report for SLC23A3 (219940051 - 220035549 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC23A3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508200CNV Loss20534489
    nsv875868CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC23A3

    (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
    2 diseases for SLC23A3:    About MalaCards
    juvenile myoclonic epilepsy    pneumonia


    SLC23A3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC23A3
    Human Genome Epidemiology (HuGE) Navigator: SLC23A3 (1 document)

    Export disorders for SLC23A3 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 SLC23A3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC23A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    2. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Interactome mapping of the phosphatidylinositol 3-kin ase-mammalian target of rapamycin pathway identifies deformed epidermal autoreg ulatory factor-1 as a new glycogen synthase kinase-3 interactor. (PubMed id 20368287)1 Pilot-Storck F....Goillot E. (2010)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    9. A new approach to the study of haematopoietic development in the yolk sac and embryoid bodies. (PubMed id 7588067)1 Guimaraes M.J.... McClanahan T. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 151295 HGNC: 20601 AceView: FLJ12610andSLC23A3 Ensembl:ENSG00000213901 euGenes: HUgn151295
    ECgene: SLC23A3 H-InvDB: SLC23A3

    (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 SLC23A3 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 SLC23A3 gene:
    Search GeneIP for patents involving SLC23A3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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