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

SLC28A1 Gene

protein-coding   GIFtS: 57
GCID: GC15P085427

Solute Carrier Family 28 (Concentrative Nucleoside Transporter),...

(Previous names: solute carrier family 28 (sodium-coupled nucleoside transporter),...)
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 28 (Concentrative Nucleoside Transporter), Member
11 2
     CNT 12 3
CNT12 3 5     Na(+)/Nucleoside Cotransporter 12 3
Solute Carrier Family 28 (Sodium-Coupled Nucleoside Transporter), Member 11 2     HCNT12
Concentrative Nucleoside Transporter 12 3     Sodium/Nucleoside Cotransporter 12
Sodium-Coupled Nucleoside Transporter 12 3     hCNT13
Solute Carrier Family 28 Member 12 3     

External Ids:    HGNC: 110011   Entrez Gene: 91542   Ensembl: ENSG000001562227   OMIM: 6062075   UniProtKB: O003373   

Export aliases for SLC28A1 gene to outside databases

Previous GC identifers: GC15P081540 GC11M000494 GC15P083015 GC15P083157 GC15P083228 GC15P061513


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

GeneCards Summary for SLC28A1 Gene: 
SLC28A1 (solute carrier family 28 (concentrative nucleoside transporter), member 1) is a protein-coding gene. Diseases associated with SLC28A1 include macroglobulinemia, and waldenstrom macroglobulinemia, and among its related super-pathways are Transmembrane transport of small molecules and Transport of organic anions. GO annotations related to this gene include nucleoside:sodium symporter activity and nucleoside binding. An important paralog of this gene is SLC28A2.

UniProtKB/Swiss-Prot: S28A1_HUMAN, O00337
Function: Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside
transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also
transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine
(ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used
to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine,
thymidine, cytidine, uridine >> guanosine, inosine

Gene Wiki entry for SLC28A1 (Concentrative nucleoside transporter 1) 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_000015.9  NT_010274.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC28A1 gene promoter:
         Bach1   HTF   Ik-3   Tal-1beta   LCR-F1   MZF-1   CREB   AREB6   Zic1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC28A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC28A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC28A1


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

Entrez Gene cytogenetic band: 15q25.3   Ensembl cytogenetic band:  15q25.3   HGNC cytogenetic band: 15q25.3

SLC28A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC28A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P085427:  view genomic region     (about GC identifiers)

Start:
85,427,885 bp from pter      End:
85,518,876 bp from pter
Size:
90,992 bases      Orientation:
plus 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: S28A1_HUMAN, O00337 (See protein sequence)
Recommended Name: Sodium/nucleoside cotransporter 1  
Size: 649 amino acids; 71584 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: A0AV42 A8K7I2 O00335 O00336 Q5U5S6 Q5U648 Q9UEZ9
Alternative splicing: 2 isoforms:  O00337-1   O00337-2   

Explore the universe of human proteins at neXtProt for SLC28A1: NX_O00337

Explore proteomics data for SLC28A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00337

  • SLC28A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC28A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004204.3  NP_964014.1  

    ENSEMBL proteins: 
     ENSP00000341629   ENSP00000286749   ENSP00000444700   ENSP00000440546   ENSP00000443752  
     ENSP00000378074   ENSP00000443764  
    Reactome Protein details: O00337
    Human Recombinant Protein Products for SLC28A1: 
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    Novus Biologicals SLC28A1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9124315
    GO:0016020membrane TAS9124315

    SLC28A1 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: CNT1 
    SLC28 family

    5 InterPro protein domains:
     IPR018270 C_nuclsd_transpt_met_bac
     IPR008276 C_nuclsd_transpt
     IPR002668 Nuclsd_transpt2
     IPR011642 Nucleoside_recog_Gate
     IPR011657 Nucleos_tra2_C

    Graphical View of Domain Structure for InterPro Entry O00337

    ProtoNet protein and cluster: O00337

    2 Blocks protein domains:
    IPB002668 Na+ dependent nucleoside transporter
    IPB011642 Nucleoside recognition


    UniProtKB/Swiss-Prot: S28A1_HUMAN, O00337
    Similarity: Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family


    SLC28A1 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: S28A1_HUMAN, O00337
    Function: Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside
    transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also
    transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine
    (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used
    to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine,
    thymidine, cytidine, uridine >> guanosine, inosine

         Genatlas biochemistry entry for SLC28A1:
    solute carrier family 28,member A1,renal reabsorption transporter of physiological
    nucleosides,pyrimidines,adenosin and drugs

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001882nucleoside binding IEA--
    GO:0005337nucleoside transmembrane transporter activity TAS9124315
    GO:0005415nucleoside:sodium symporter activity IEA--
         
    SLC28A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC28A1:
     Increased cell number in G2M,  

    Animal Models:
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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 SLC28A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Transport of organic anions
    Transport of vitamins, nucleosides, and related molecules0.34
    3Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
    4Gemcitabine Pathway, Pharmacodynamics
    Gemcitabine Pathway, Pharmacodynamics
    5Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC28A1
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
    Transport of vitamins, nucleosides, and related molecules

    2 PharmGKB Pathways for SLC28A1
        Gemcitabine Pathway, Pharmacodynamics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics


    SLC28A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC28A1

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS9124315
    GO:0006810transport ----
    GO:0015858nucleoside transport TAS9124315
    GO:0055085transmembrane transport TAS--

    SLC28A1 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

    SLC28A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC28A1 (S28A1)

    1 HMDB Compound for SLC28A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    10/25 Novoseek inferred chemical compound relationships for SLC28A1 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nucleoside 89.4 145 14978229 (5), 18371949 (3), 10353719 (3), 20060452 (3) (see all 47)
    pyrimidine nucleoside 79.8 7 20060452 (2), 15651758 (1), 18371949 (1), 12856181 (1)
    uridine 79.7 22 15044622 (3), 15194733 (3), 14668133 (2), 14645682 (2) (see all 8)
    5-fluorouridine 76.9 8 15044622 (1), 10353719 (1), 15194733 (1)
    purine nucleoside 70.5 4 14701834 (1), 18371949 (1), 12687033 (1), 12856181 (1)
    gemcitabine 70.4 9 18371949 (2), 14581375 (2), 14668133 (1), 16868547 (1) (see all 6)
    pyrimidine 67.3 9 12856181 (2), 10996312 (1), 19380585 (1), 18668436 (1)
    cass 66.7 3 10353719 (1), 9124315 (1)
    5'-deoxy-5-fluorouridine 66.7 5 18053967 (2), 14701834 (1), 11353816 (1)
    2-chlorodeoxyadenosine 66.6 4 15044622 (1), 19647871 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC28A1 / S28A1

    (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 SLC28A1 gene (2 alternative transcripts): 
    NM_004213.3  NM_201651.1  

    Unigene Cluster for SLC28A1:

    Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1
    Hs.459187  [show with all ESTs]
    Unigene Representative Sequence: NM_004213
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338602(uc002blf.3) ENST00000286749(uc010bnb.3 uc010upe.2)
    ENST00000537624(uc010upf.1 uc010upg.1) ENST00000537216 ENST00000538177
    ENST00000394573(uc002blg.3) ENST00000537703(uc010upd.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF309632.1 AK291997.1 AK296074.1 AK296075.1 AK296119.1 AK298369.1 AK309571.1 AK309578.1 
    AK311387.1 BC029788.1 BC039898.1 BC126204.1 BC126206.1 BC143908.1 U62967.1 U62968.1 

    7 DOTS entries:

    DT.91975003  DT.99964162  DT.97839929  DT.121072089  DT.121072099  DT.65284991  DT.86844713 

    24/38 AceView cDNA sequences (see all 38):

    BU629637 AW451748 NM_201651 BX098316 BC039898 BM761472 U62968 U62967 
    AF309632 BX112233 BM762570 BM843687 BM843523 BM843628 AA918008 BM761696 
    BI764879 BC029788 BM764268 AI791815 BM845109 NM_004213 AI733134 BM762623 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SLC28A1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                          -     -           -     -     -                       -                                                                           
    SP2:                                -           -     -     -                       -                                                                           
    SP3:                                -           -     -     -                                                                                                   
    SP4:                          -                 -     -     -                                                                                                   
    SP5:                                -                                                                                                                           

    ExUns: 21a · 21b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for SLC28A1

    (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

    SLC28A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGAGGCT
    SLC28A1 Expression
    About this image


    See SLC28A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC28A1

    SOURCE GeneReport for Unigene cluster: Hs.459187

    UniProtKB/Swiss-Prot: S28A1_HUMAN, O00337
    Tissue specificity: Expressed in kidney

        SABiosciences Expression via Pathway-Focused PCR Array including SLC28A1: 
              Drug Transporters in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC28A1

    (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 SLC28A1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc28a11 , 5 solute carrier family 28 (sodium-coupled nucleoside more1, 5 83.62(n)1
    84.08(a)1
      7 (45.71 cM)5
    4342031  NM_001004184.31  NP_001004184.21 
     811147995 
    chicken
    (Gallus gallus)
    Aves SLC28A26
    Uncharacterized protein
    57(a)
    1 → many
    10(380306-392708)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    52(a)
    1 → many
    GL343490.1(96354-106332)
    zebrafish
    (Danio rerio)
    Actinopterygii SLC28A26
    solute carrier family 28 (sodium-coupled nucleosid...
    51(a)
    1 → many
    18(26773453-26795881)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG117783 nucleoside:sodium symporter 42(a)
    (best of 2)
      45A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea F27E11.13 nucleoside transporter 29(a)   V(3463660-3465965)   --


    ENSEMBL Gene Tree for SLC28A1 (if available)
    TreeFam Gene Tree for SLC28A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC28A1 gene
    SLC28A22  SLC28A32  
    2 SIMAP similar genes for SLC28A1 using alignment to 5 protein entries:     S28A1_HUMAN (see all proteins):
    SLC28A2    SLC28A3

    SLC28A1 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

    UniProtKB/Swiss-Prot: S28A1_HUMAN, O00337
    Polymorphism: Three variant forms of isoform 1 (A, B and C) are expressed in the kidney. All three variant forms
    have similar nucleoside transport activity


    10/1880 SNPs in SLC28A1 are shown (see all 1880)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0095024
    ----see VAR_0095022 N S mis40--------
    VAR_0094994
    ----see VAR_0094992 E G mis40--------
    rs1861454401,2
    --85426041(+) GGGTAA/GAATTC 2 -- us2k10--------
    rs589484711,2
    C,F--85426175(+) CACATG/ATGCCC 2 -- us2k16Minor allele frequency- A:0.14NA CSA WA EA 364
    rs1904710671,2
    --85426208(+) GGGTCA/GAGGAG 2 -- us2k10--------
    rs1840675031,2
    --85426231(+) GAAACC/TGTTGG 2 -- us2k10--------
    rs1489719891,2
    --85426365(+) AGTCCA/GTTCCC 2 -- us2k10--------
    rs1470940571,2
    --85426417(+) CCAAGA/GTATTT 2 -- us2k10--------
    rs780723381,2
    --85426425(+) TTTCTC/TTAGTC 2 -- us2k10--------
    rs768465361,2
    C--85426455(+) CATCAA/TTTTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC28A1 (85427885 - 85518876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for SLC28A1 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672879CNV Deletion23128226
    esv2749967CNV Deletion23290073
    esv1131956CNV Deletion17803354
    esv2749966CNV Deletion23290073
    esv2673757CNV Deletion23128226
    esv2749965CNV Deletion23290073
    esv4622CNV Deletion18987735
    esv1010774CNV Deletion20482838
    esv1025455CNV Insertion17803354
    nsv94824CNV Insertion16902084


    Human Gene Mutation Database (HGMD): SLC28A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC28A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC28A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606207    OMIM disorders: --

    15 diseases for SLC28A1:    About MalaCards
    macroglobulinemia    waldenstrom macroglobulinemia    acquired immunodeficiency syndrome    b-cell chronic lymphocytic leukemia
    choroiditis    chronic lymphocytic leukemia    hepatocellular carcinoma    acute myeloid leukemia
    pancreatic cancer    myeloid leukemia    leukemia    pancreatitis
    lung cancer    ovarian cancer    breast cancer


    SLC28A1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SLC28A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma 0.726 2 20028759 (1), 15386342 (1)
    hepatocellular carcinoma 0 1 11396615 (1)
    tumors 0 5 15386342 (3), 11353816 (1)

    Genetic Association Database (GAD): SLC28A1
    Human Genome Epidemiology (HuGE) Navigator: SLC28A1 (10 documents)

    Export disorders for SLC28A1 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 SLC28A1 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with SLC28A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of cDNAs encoding a human Na+-nucleoside cotransporter (hCNT1). (PubMed id 9124315)1, 2, 3, 9 Ritzel M.W.L....Young J.D. (1997)
    2. Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. (PubMed id 10455109)1, 2, 9 Loewen S.K....Young J.D. (1999)
    3. Impact of concentrative nucleoside transporter 1 gene polymorphism on oral bioavailability of mizoribine in stable kidney transplant recipients. (PubMed id 19912163)1, 4, 9 Naito T....Kawakami J. (2010)
    4. Single nucleotide polymorphisms of gemcitabine metabo lic genes and pancreatic cancer survival and drug toxicity. (PubMed id 20028759)1, 4, 9 Okazaki T....Li D. (2010)
    5. Polymorphisms in transporter and phase II metabolism genes as potential modifiers of the predisposition to and treatment outcome of de novo acute myeloid leukemia in Israeli ethnic groups. (PubMed id 18207572)1, 4, 9 Muller P....Rund D. (2008)
    6. Genome-wide association analysis of age-at-onset in Al zheimer's disease. (PubMed id 22005931)1, 4 Kamboh M.I....Lopez O.L. (2012)
    7. Contribution of adenosine related genes to the risk o f depression with disturbed sleep. (PubMed id 20392501)1, 4 Gass N....Paunio T. (2010)
    8. Gemcitabine metabolic and transporter gene polymorphi sms are associated with drug toxicity and efficacy in patients with locally adv anced pancreatic cancer. (PubMed id 20665488)1, 4 Tanaka M....Li D. (2010)
    9. Polymorphisms in ABCG2, ABCC3 and CNT1 genes and their possible impact on chemotherapy outcome of lung cancer patients. (PubMed id 19107936)1, 4 MA1ller P.J....Risch A. (2009)
    10. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 9154 HGNC: 11001 AceView: SLC28A1 Ensembl:ENSG00000156222 euGenes: HUgn9154
    ECgene: SLC28A1 H-InvDB: SLC28A1

    (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 SLC28A1 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 SLC28A1 gene:
    Search GeneIP for patents involving SLC28A1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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