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

SLC29A1 Gene

protein-coding   GIFtS: 69
GCID: GC06P044187

Solute Carrier Family 29 (Equilibrative Nucleoside Transporter),...

(Previous names: solute carrier family 29 (nucleoside transporters), member...)
(Previous symbol: ENT1)
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 29 (Equilibrative Nucleoside Transporter), Member
11 2
     Nucleoside Transporter, Es-Type2 3
ENT11 2 3 5     Solute Carrier Family 29 Member 12 3
Solute Carrier Family 29 (Nucleoside Transporters), Member 11 2     Equilibrative Nitrobenzylmercaptopurine Riboside (NBMPR)-Sensitive
Nucleoside Transporter2
Equilibrative NBMPR-Sensitive Nucleoside Transporter2 3     Equilibrative Nucleoside Transporter 12
Equilibrative Nitrobenzylmercaptopurine Riboside-Sensitive Nucleoside
Transporter2 3
     Solute Carrier Family 29, Member 12

External Ids:    HGNC: 110031   Entrez Gene: 20302   Ensembl: ENSG000001127597   OMIM: 6021935   UniProtKB: Q998083   

Export aliases for SLC29A1 gene to outside databases

Previous GC identifers: GC06P044189 GC06P044234 GC06P044295 GC06P043909


(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 SLC29A1 Gene:
This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane
glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of
nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to
concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside
transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and
are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple
alternatively spliced variants, encoding the same protein, have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for SLC29A1 Gene: 
SLC29A1 (solute carrier family 29 (equilibrative nucleoside transporter), member 1) is a protein-coding gene. Diseases associated with SLC29A1 include pancreas adenocarcinoma, and gestational diabetes, and among its related super-pathways are Fluoropyrimidine Pathway, Pharmacokinetics and Transmembrane transport of small molecules. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A4.

UniProtKB/Swiss-Prot: S29A1_HUMAN, Q99808
Function: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is
sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is
sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer
chemotherapeutics drugs)

summary for SLC29A1 Gene:
Nucleoside transporters are divided into two families; the Na+-dependent solute carrier family 28 (SLC28)
and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1-3) display
subtype-selective expression patterns; CNT1 is localized primarily to epithelial tissue whereas CNT2 and
CNT3 have more widespread distributions. SLC29 family transporters (ENT1-4) are glycosylated proteins,
localized to the plasma and mitochondrial membranes. They are expressed in the heart, brain, mammary gland,
erythrocytes and placenta, and also in fetal liver and spleen. They mediate nucleoside influx and efflux and
exhibit highest affinity for adenosine. CNT and ENT transporters play critical roles in nucleoside salvage
pathways where they mediate the first step of nucleotide biosynthesis. In addition, these transporters work
in concert to terminate adenosine signaling and are vital determinants in the response to a variety of
anticancer and antiviral treatments, as they modulate the entry of these nucleoside analogs into target
tissues.

Gene Wiki entry for SLC29A1 (Equilibrative 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_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC29A1 gene promoter:
         STAT1   Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC29A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC29A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC29A1


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

SLC29A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC29A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P044187:  view genomic region     (about GC identifiers)

Start:
44,187,242 bp from pter      End:
44,201,888 bp from pter
Size:
14,647 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: S29A1_HUMAN, Q99808 (See protein sequence)
Recommended Name: Equilibrative nucleoside transporter 1  
Size: 456 amino acids; 50219 Da
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass
membrane protein. Note=Predominantly localized in the basolateral membrane in polarized MDCK cells
Secondary accessions: B3KQY5 Q5T9W9 Q9UJY2

Explore the universe of human proteins at neXtProt for SLC29A1: NX_Q99808

Explore proteomics data for SLC29A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99808

  • SLC29A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC29A1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001071642.1  NP_001071645.1  NP_004946.1  NP_001071643.1  NP_001071644.1  

    ENSEMBL proteins: 
     ENSP00000392668   ENSP00000360820   ENSP00000360805   ENSP00000360796   ENSP00000360789  
     ENSP00000360778   ENSP00000360773   ENSP00000319152   ENSP00000377427   ENSP00000377424  
    Reactome Protein details: Q99808
    Human Recombinant Protein Products for SLC29A1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SLC29A1
    OriGene Protein Over-expression Lysate for SLC29A1
    OriGene MassSpec for SLC29A1 
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    Novus Biologicals SLC29A1 Protein
    Novus Biologicals SLC29A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8986748
    GO:0016020membrane TAS8986748
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IDA12527552

    SLC29A1 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: Equilibrative nucleoside transporter 1 
    SLC29 family

    1 InterPro protein domain:
     IPR002259 Eqnu_transpt

    Graphical View of Domain Structure for InterPro Entry Q99808

    ProtoNet protein and cluster: Q99808

    1 Blocks protein domain: IPB002259 Delayed-early response protein/equilibrative nucleoside transporter signature

    UniProtKB/Swiss-Prot: S29A1_HUMAN, Q99808
    Similarity: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family


    SLC29A1 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: S29A1_HUMAN, Q99808
    Function: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is
    sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is
    sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer
    chemotherapeutics drugs)
    Biophysicochemical properties: Kinetic parameters: KM=0.62 mM for adenosine; Note=Vmax for adenosine uptake is
    about the same for SLC29A1 and SLC29A2;

         Genatlas biochemistry entry for SLC29A1:
    solute carrier family 29,member A1,equilibrative nucleoside transporter,widely distributed

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005337nucleoside transmembrane transporter activity IEA--
         
    SLC29A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC29A1:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc29a1):
     behavior/neurological  growth/size  nervous system  no phenotypic analysis 

    SLC29A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc29a1tm1Msg for SLC29A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC29A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC29A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC29A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC29A1 

    miRNA
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    hsa-miR-34b* hsa-miR-29b-1* hsa-miR-146a* hsa-miR-124 hsa-miR-298 hsa-miR-506 hsa-miR-2114* hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidSLC29A1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): SLC29A1 (NM_001078177)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A1


    (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 SLC29A1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fluoropyrimidine Activity
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.36
    4Transport of organic anions
    Transport of vitamins, nucleosides, and related molecules0.34
    5Alcoholism
    Alcoholism0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC29A1
        Selected targets of GCR-alpha


    1 BioSystems Pathway for SLC29A1
        Fluoropyrimidine Activity

    4        Reactome Pathways for SLC29A1
        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

    3 PharmGKB Pathways for SLC29A1
        Fluoropyrimidine Pathway, Pharmacokinetics
    Gemcitabine Pathway, Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    1         Kegg Pathway  (Kegg details for SLC29A1):
        Alcoholism


    SLC29A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC29A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/9 Interacting proteins for SLC29A1 (Q998081, 2, 3 ENSP000003607734) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206342P498421, 2, 3, ENSP000003728174EBI-347907,EBI-347581 MINT-62585 MINT-62759 MINT-62683 I2D: score=5 STRING: ENSP00000372817
    ENSG00000226033P498421, 2, 3EBI-347907,EBI-347581 MINT-62585 MINT-62759 MINT-62683 I2D: score=5 
    ENSG00000226257P498421, 2, 3EBI-347907,EBI-347581 MINT-62585 MINT-62759 MINT-62683 I2D: score=5 
    ENSG00000234947P498421, 2, 3EBI-347907,EBI-347581 MINT-62585 MINT-62759 MINT-62683 I2D: score=5 
    ENSG00000236250P498421, 2, 3, ENSP000003917984EBI-347907,EBI-347581 MINT-62585 MINT-62759 MINT-62683 I2D: score=5 STRING: ENSP00000391798
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS8986748
    GO:0006810transport ----
    GO:0007595lactation IEA--
    GO:0015858nucleoside transport IDA12527552
    GO:0015862uridine transport IEA--

    SLC29A1 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

    SLC29A1 for compounds           About GeneDecksing

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

    Compounds for SLC29A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DipyridamoleAdenosine transport inhibitor[58-32-2]
    NBMPREquilibrative nucleoside transporter 1 (ENT1) inhibitor[38048-32-7]
    Dilazep dihydrochlorideAdenosine uptake inhibitor[20153-98-4]
    Decynium 22PMAT inhibitor[977-96-8]

    1 HMDB Compound for SLC29A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    10/11 DrugBank Compounds for SLC29A1 (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GemcitabinedFdC (see all 4)95058-81-4transportersubstrate20082300 16818276
    RibavirinRBV (see all 4)36791-04-5transportersubstrate20096989 20185188
    CytarabineAra-C (see all 26)147-94-4transportersubstrate20082300
    DidanosineDDI (see all 2)69655-05-6transporter--11463208
    FludarabineFAMP (see all 4)75607-67-9transportersubstrate20082300
    Fluorouracil5-Fluorouracil (see all 6)51-21-8transportersubstrate17695509
    PemetrexedLY231514 (see all 2)150399-23-8enzymeinducer21336182
    Troglitazone-- 97322-87-7targetinhibitor15963471
    Uridine-- 58-96-8transporter--16818276
    ZalcitabineDDC (see all 3)7481-89-2transporter--11463208

    8 IUPHAR Ligands for SLC29A1 (Equilibrative nucleoside transporter 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    NBTI
    InhibitorInhibition9.7--
    draflazine
    InhibitorInhibition9.5--
    KF24345
    InhibitorInhibition9.414634039
    NBTGR
    InhibitorInhibition9.3--
    [3H]NBTI
    NoneNone9.3--
    dilazep
    InhibitorInhibition9--
    dipyridamole
    InhibitorInhibition8.5--
    [14C]adenosine
    NoneNone8.5--

    10/29 Novoseek inferred chemical compound relationships for SLC29A1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitrobenzylthioinosine 95.3 10 15081020 (2), 8093099 (1), 11085929 (1), 10366666 (1) (see all 8)
    5-(saenta-x8)fluorescein 93.7 3 8432200 (2), 9207471 (1)
    nucleoside 93.5 269 12724623 (4), 19801629 (4), 8432200 (3), 15102528 (3) (see all 99)
    draflazine 90.6 2 18462193 (1), 17379602 (1)
    soluflazine 89.6 2 18462193 (1), 17379602 (1)
    saenta 87.8 1 11849208 (1)
    deoxycytidine 85.9 18 15471562 (2), 16585222 (1), 17224927 (1), 17296311 (1) (see all 16)
    gemcitabine 80.4 37 15501974 (2), 16585222 (2), 19318496 (2), 15471562 (2) (see all 28)
    dipyridamole 79.9 18 17636949 (3), 18462193 (1), 19748575 (1), 15644498 (1) (see all 10)
    uridine 75.2 9 17121826 (2), 10722669 (1), 12416024 (1), 15043160 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about SLC29A1 / S29A1

    (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,
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    About This Section

    REFSEQ mRNAs for SLC29A1 gene (5 alternative transcripts): 
    NM_001078174.1  NM_001078177.1  NM_004955.2  NM_001078175.2  NM_001078176.2  

    Unigene Cluster for SLC29A1:

    Solute carrier family 29 (nucleoside transporters), member 1
    Hs.25450  [show with all ESTs]
    Unigene Representative Sequence: NM_001078177
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427851 ENST00000371755(uc003owy.1) ENST00000371740(uc003owx.1)
    ENST00000371731 ENST00000371724 ENST00000371713 ENST00000371708 ENST00000472176(uc011dvq.1)
    ENST00000313248 ENST00000393844(uc021yzw.1 uc011dvp.1 uc003owu.1 uc003owv.1 uc003oww.1)
    ENST00000393841(uc003owz.1 uc021yzx.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC29A1

    Additional mRNA sequence: 

    AB490708.1 AB490709.1 AF079117.1 AK090491.1 AK090615.1 AK293558.1 AK304285.1 BC001382.2 
    BC008954.2 BC095398.1 U81375.1 

    24/29 DOTS entries (see all 29):

    DT.100677517  DT.100647849  DT.416615  DT.416616  DT.100677515  DT.92450528  DT.95349688  DT.97847963 
    DT.92450530  DT.100677507  DT.95358664  DT.100677519  DT.95358661  DT.95358669  DT.100677504  DT.95358681 
    DT.100852953  DT.95204966  DT.95358670  DT.92450518  DT.95212146  DT.100677512  DT.121317670  DT.121317712 

    24/419 AceView cDNA sequences (see all 419):

    AK090615 CB215313 BI868813 BF726020 AI128763 BI090559 BX384671 R57372 
    CB959522 BM710065 CR593431 AI871875 BQ925947 BE280829 BU849167 AI249690 
    CB109874 BI758137 AW043890 BM661584 CB961939 BP376093 BC008954 BM904389 

    GeneLoc Exon Structure

    5/32 Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A1 (see all 32)    About this scheme

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

    ExUns: 12b · 12c · 12d · 12e · 12f · 12g · 12h ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ·
    SP1:                    -     -     -     -     -     -                                         -     -                                                         
    SP2:                    -     -     -     -     -     -                                         -     -                                                         
    SP3:                    -     -     -     -     -     -                                         -     -                                                         
    SP4:                    -     -     -     -     -     -                                         -     -                                                         
    SP5:                    -     -     -     -     -     -                                         -     -                                                         


    ECgene alternative splicing isoforms for SLC29A1

    (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

    SLC29A1 expression in normal human tissues (normalized intensities)      SLC29A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTAAAAAAA
    SLC29A1 Expression
    About this image


    SLC29A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             Olfactory Bulb   
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem progenitor RP1-MV2-16
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus

    See SLC29A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC29A1

    SOURCE GeneReport for Unigene cluster: Hs.25450

    UniProtKB/Swiss-Prot: S29A1_HUMAN, Q99808
    Tissue specificity: Expressed in heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver
    and spleen

        SABiosciences Expression via Pathway-Focused PCR Array including SLC29A1: 
              Drug Transporters in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A1

    (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 and fungi.

    Orthologs for SLC29A1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc29a11 , 5 solute carrier family 29 (nucleoside transporters), more1, 5 82.38(n)1
    80.04(a)1
      17 (22.59 cM)5
    639591  NM_001199113.11  NP_001186042.11 
     455852005 
    chicken
    (Gallus gallus)
    Aves SLC29A11 solute carrier family 29 (nucleoside transporters), more 68.31(n)
    62.47(a)
      421439  XM_419491.3  XP_419491.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC29A16
    solute carrier family 29 (nucleoside transporters)...
    62(a)
    1 ↔ 1
    1(227837887-227905304)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687322 hypothetical protein MGC68732 77.24(n)    BC060420.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003314391 equilibrative nucleoside transporter 1-like 66.82(n)
    68.86(a)
      100331439  XM_002667285.2  XP_002667331.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119073
    Ent11
    equilibrative nucleoside transporter,
    nitrobenzyl-thioinosine-insensitive3
    Equilibrative nucleoside transporter 11
    32(a)
    (best of 2)3
    46.96(n)1
    34.62(a)1
      21C23
    332071  NM_134675.41  NP_608519.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K09A9.33   -- 26(a)
    (best of 2)
      X(15636297-15638548)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FUN261 Fun26p 42.21(n)
    26.63(a)
      851211   NP_009380.1 


    ENSEMBL Gene Tree for SLC29A1 (if available)
    TreeFam Gene Tree for SLC29A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC29A1 gene
    SLC29A42  SLC29A32  SLC29A22  
    2 SIMAP similar genes for SLC29A1 using alignment to 4 protein entries:     S29A1_HUMAN (see all proteins):
    SLC29A2    SLC29A3

    SLC29A1 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

    10/389 SNPs in SLC29A1 are shown (see all 389)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362224
    A colorectal cancer sample4--see VAR_0362222 I V mis40--------
    VAR_0362214
    A colorectal cancer sample4--see VAR_0362212 A T mis40--------
    rs37347011,2
    C,F,A,H--44185254(+) TGTCCC/TGCCTG 2 -- us2k117Minor allele frequency- T:0.08NS NA WA CSA EA 1141
    rs792410161,2
    C,F--44185264(+) GCTGCT/AGCCTG 2 -- us2k14Minor allele frequency- A:0.18CSA WA NA EA 360
    rs1150059271,2
    F--44185299(+) TCCTGC/TCCCTG 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1814531731,2
    --44185324(+) CCGCCA/GCCTGG 2 -- us2k10--------
    rs1865451051,2
    --44185408(+) TGGGGA/TGGCCT 2 -- us2k10--------
    rs1409988061,2
    --44185425(+) TGGACC/TGCCTG 2 -- us2k10--------
    rs1113039071,2
    C,F--44185448(+) AGGTTG/AGGCCC 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs575957901,2
    C,F--44185522(+) GATAAT/GCCTGG 2 -- us2k14Minor allele frequency- G:0.26WA NA 242

    HapMap Linkage Disequilibrium report for SLC29A1 (44187242 - 44201888 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC29A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5282CNV Insertion18451855
    nsv462936CNV Loss19166990
    nsv524398CNV Loss19592680
    nsv885851CNV Loss21882294
    nsv885852CNV Loss21882294
    dgv6843n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): SLC29A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC29A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC29A1

    (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: 602193    OMIM disorders: --

    20/39 diseases for SLC29A1 (see all 39):    About MalaCards
    pancreas adenocarcinoma    gestational diabetes    pancreatic cancer    beta thalassemia
    thalassemia    hyperglycemia    mantle cell lymphoma    acute leukemia
    b-cell chronic lymphocytic leukemia    eclampsia    pre-eclampsia    esophageal adenocarcinoma
    choriocarcinoma    myelodysplastic syndromes    pancreatitis    non-hodgkin lymphoma
    hodgkin's lymphoma    acute lymphoblastic leukemia    inflammatory bowel disease    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for SLC29A1:
    Pancreatic cancer

    SLC29A1 for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for SLC29A1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatic cancer 59.3 6 16585222 (1), 18378536 (1), 18589402 (1), 18992248 (1) (see all 6)
    diabetes gestational 43.8 12 20032083 (4), 16688763 (3), 19193655 (1), 15272035 (1)
    leukemia 41.4 2 9207471 (1), 18279955 (1)
    adenocarcinoma 27.8 4 15501974 (1), 17390066 (1), 19318496 (1), 19214867 (1)
    acute leukemia 23 1 16609362 (1)
    pancreatic carcinoma 14.1 1 17695509 (1)
    nsclc 12.5 7 15471562 (2), 17658213 (2)
    tumors 9.19 1 16585222 (1)
    breast cancer 0 3 16965766 (1), 11801546 (1), 12912975 (1)
    hyperglycemia 0 1 19193655 (1)

    Genetic Association Database (GAD): SLC29A1
    Human Genome Epidemiology (HuGE) Navigator: SLC29A1 (15 documents)

    Export disorders for SLC29A1 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 SLC29A1 gene, integrated from 9 sources (see all 225):
    (articles sorted by number of sources associating them with SLC29A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs. (PubMed id 8986748)1, 2, 3 Griffiths M.... Baldwin S.A. (1997)
    2. Characterization of ribavirin uptake systems in human hepatocytes. (PubMed id 20185188)1, 7, 9 Fukuchi Y....Chiba K. (2010)
    3. Expression of human equilibrative nucleoside transporter 1 (hENT1) and its correlation with gemcitabine uptake and cytotoxicity in mantle cell lymphoma. (PubMed id 16818276)1, 7, 9 Marce S....Colomer D. (2006)
    4. Optimizing pemetrexed-gemcitabine combination in pati ents with advanced non-small cell lung cancer: a pharmacogenetic approach. (PubMed id 21336182)1, 7 De Pas T.M....De Braud F. (2011)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. Single nucleotide polymorphisms of gemcitabine metabo lic genes and pancreatic cancer survival and drug toxicity. (PubMed id 20028759)1, 4 Okazaki T....Li D. (2010)
    7. 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)
    8. Population pharmacokinetics of gemcitabine and its me tabolite in Japanese cancer patients: impact of genetic polymorphisms. (PubMed id 20608756)1, 4 Sugiyama E....Sawada J. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Influence of a single nucleotide polymorphism at the main ribavirin transporter gene on the rapid virological response to pegylated interferon-ribavirin therapy in patients with chronic hepatitis C virus infecti on. (PubMed id 20812847)1, 4 Morello J....RodrA-guez-NA^voa S. (2010)

    (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: 2030 HGNC: 11003 AceView: SLC29A1 Ensembl:ENSG00000112759 euGenes: HUgn2030
    ECgene: SLC29A1 Kegg: 2030 H-InvDB: SLC29A1

    (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 SLC29A1 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 SLC29A1 gene:
    Search GeneIP for patents involving SLC29A1

    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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    About This Section

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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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    transforming growth factor, beta 1
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