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SLC17A5 Gene

protein-coding   GIFtS: 63
GCID: GC06M074303

Solute Carrier Family 17 (Acidic Sugar Transporter), Member...

(Previous names: sialic acid storage disease, solute carrier family 17 (anion/sugar...)
(Previous symbol: SIASD)
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)
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Aliases
Solute Carrier Family 17 (Acidic Sugar Transporter), Member 51 2     SLD2 5
SIASD1 2 5     ISSD2
Sialic Acid Storage Disease1 2     NSD2
Solute Carrier Family 17 (Anion/Sugar Transporter), Member 51 2     SD2
Membrane Glycoprotein HP592 3     SIALIN2
Vesicular H(+)/Aspartate-Glutamate Cotransporter2 3     sialin2
AST2 3     Sodium/Sialic Acid Cotransporter2
H(+)/Nitrate Cotransporter2 3     Solute Carrier Family 17 Member 53
H(+)/Sialic Acid Cotransporter2 3     

External Ids:    HGNC: 109331   Entrez Gene: 265032   Ensembl: ENSG000001198997   OMIM: 6043225   UniProtKB: Q9NRA23   

Export aliases for SLC17A5 gene to outside databases

Previous GC identifers: GC06M074261 GC06M074298 GC06M074359 GC06M071502


(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 SLC17A5 Gene:
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface
lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including
infantile sialic acid storage disorder and and Salla disease, an adult form. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC17A5 Gene:
SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5) is a protein-coding gene. Diseases associated with SLC17A5 include rocky mountain spotted fever, and free sialic acid storage disorders. GO annotations related to this gene include sialic acid transmembrane transporter activity and sugar:hydrogen symporter activity. An important paralog of this gene is SLC17A7.

UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2
Function: Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from
sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and
glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also
functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells,
mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted
in saliva

Gene Wiki entry for SLC17A5 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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC17A5 gene promoter:
         Nkx3-1   Nkx6-1   p53   AP-1   ATF-2   c-Jun   Cdc5   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC17A5 promoter sequence
   Search Chromatin IP Primers for SLC17A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC17A5


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q13

SLC17A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC17A5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M074303:  view genomic region     (about GC identifiers)

Start:
74,303,102 bp from pter      End:
74,363,878 bp from pter
Size:
60,777 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2 (See protein sequence)
Recommended Name: Sialin  
Size: 495 amino acids; 54640 Da
Sequence caution: Sequence=AAF97769.1; Type=Erroneous initiation;
Secondary accessions: Q5SZ76 Q8NBR5 Q9UGH0
Alternative splicing: 2 isoforms:  Q9NRA2-1   Q9NRA2-2   

Explore the universe of human proteins at neXtProt for SLC17A5: NX_Q9NRA2

Explore proteomics data for SLC17A5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys263, Lys278
  • Glycosylation2 at Asn71, Asn77, Asn95
  • Modification sites at PhosphoSitePlus

  • See SLC17A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036566.1  
    ENSEMBL proteins: 
     ENSP00000348019   ENSP00000376742  
    Reactome Protein details: Q9NRA2

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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: Sialin
    Sialic acid transporter

    3 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9NRA2

    ProtoNet protein and cluster: Q9NRA2

    UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2
    Similarity: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family


    SLC17A5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S17A5_HUMAN, Q9NRA2
    Function: Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from
    sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and
    glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also
    functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells,
    mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted
    in saliva

         Genatlas biochemistry entry for SLC17A5:
    solute carrier family 17 member 5,anion/cation symporters

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005351sugar:hydrogen symporter activity TAS10581036
    GO:0015136sialic acid transmembrane transporter activity IDA10581036
    GO:0022857transmembrane transporter activity ----
         
    SLC17A5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC17A5:
     Decreased melanin production 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc17a5):
     behavior/neurological  cellular  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  vision/eye 

    SLC17A5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC17A5
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    miRNA
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    miRTarBase miRNAs that target SLC17A5:
    hsa-mir-335-5p (MIRT018617), hsa-mir-26b-5p (MIRT029983), hsa-mir-21-5p (MIRT030990), hsa-mir-98-5p (MIRT027706), hsa-mir-124-3p (MIRT002576)

    Block miRNA regulation of human, mouse, rat SLC17A5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC17A5 (see all 35):
    hsa-miR-320a hsa-miR-142-3p hsa-miR-3128 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-300 hsa-miR-218-1*
    SwitchGear 3'UTR luciferase reporter plasmidSLC17A5 3' UTR sequence
    Inhib. RNA
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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
    S17A5_HUMAN, Q9NRA2: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic
    vesicle membrane. Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    plasma membrane5
    vacuole5
    nucleus2
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane IDA--
    GO:0005887integral component of plasma membrane TAS10581036

    SLC17A5 for ontologies           About GeneDecksing


    (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 SLC17A5 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Organic anion transporters0.00
    2Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SLC17A5
        Sialic acid metabolism
    Organic anion transporters


    1 Kegg Pathway  (Kegg details for SLC17A5):
        Lysosome


    SLC17A5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC17A5: 
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC17A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for SLC17A5 (ENSP000003480194) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTGES3ENSP000002620334STRING: ENSP00000262033
    UBCENSP000003448184STRING: ENSP00000344818
    TAGLNENSP000002789684STRING: ENSP00000278968
    TAGLN2ENSP000003570754STRING: ENSP00000357075
    TAGLN3ENSP000002733684STRING: ENSP00000273368
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006820anion transport TAS10581036
    GO:0006865amino acid transport IEA--
    GO:0015739sialic acid transport IDA10581036
    GO:0015992proton transport TAS10581036

    SLC17A5 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC17A5 (S17A5)

    1 HMDB Compound for SLC17A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    Selected Novoseek inferred chemical compound relationships for SLC17A5 gene (see all 152)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 96.4 1529 11684554 (6), 18695252 (4), 12887345 (2), 15644569 (2) (see all 99)
    alanine 93.4 995 15644569 (2), 18623984 (2), 15801922 (2), 1403344 (1) (see all 99)
    creatinine 76.9 394 16324360 (4), 17300133 (3), 11229247 (3), 18680237 (2) (see all 99)
    nash 75.7 24 18546525 (3), 10201476 (2), 20398192 (2), 19013463 (2) (see all 16)
    lactate 70.2 224 8819358 (3), 2044472 (2), 17101152 (2), 16324360 (2) (see all 99)
    ursodeoxycholic acid 67.9 27 8122652 (2), 10355503 (2), 19522030 (2), 8315262 (1) (see all 19)
    alpha-hydroxybutyrate 66.2 9 14761575 (1), 10370734 (1), 18971188 (1), 1424434 (1) (see all 9)
    uric acid 65.7 93 1403344 (8), 18337059 (3), 16254256 (2), 17903117 (2) (see all 68)
    cholesterol 64.1 235 1403344 (8), 14600835 (2), 19443308 (2), 15329185 (2) (see all 99)
    urea 58.8 76 1403344 (8), 2044472 (2), 18623984 (2), 15660441 (2) (see all 62)



    SLC17A5 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC17A5 gene: 
    NM_012434.4  

    Unigene Cluster for SLC17A5:

    Solute carrier family 17 (anion/sugar transporter), member 5
    Hs.597422  [show with all ESTs]
    Unigene Representative Sequence: NM_012434
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355773(uc010kax.3 uc003phn.4 uc010kay.3 uc011dyo.1)
    ENST00000481996 ENST00000393019
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-320a hsa-miR-142-3p hsa-miR-3128 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-4251 hsa-miR-300 hsa-miR-218-1*
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    Additional mRNA sequence: 

    AF244577.1 AJ387747.1 AK025880.1 AK026921.1 AK075320.1 AK294068.1 AK315789.1 BC020961.2 

    7 DOTS entries:

    DT.214944  DT.100787413  DT.100787408  DT.95265203  DT.100787410  DT.99928162  DT.95151902 

    22 AceView cDNA sequences:

    N90852 AW169975 AK075320 CR618872 AK026921 AF244577 NM_012434 BX412497 
    AK025880 AI927049 AJ387747 BX105002 AW271944 BC020961 H71643 BE004141 
    H71642 CK824948 BG149365 AW182150 BI047171 BI005328 

    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™, 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)
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    SLC17A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCAGAAC
    SLC17A5 Expression
    About this image

    SLC17A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC17A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.597422

    UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2
    Tissue specificity: Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the
    adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon,
    breast and lung, but is not detected in endothelial cells from the corresponding normal tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC17A5: 
              Mesenchymal Stem Cell in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC17A5

    (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 animals.

    Orthologs for SLC17A5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc17a51 , 5 solute carrier family 17 (anion/sugar transporter), more1, 5 83.77(n)1
    86.26(a)1
      9 (43.65 cM)5
    2355041  NM_172773.31  NP_766361.11 
     785364885 
    chicken
    (Gallus gallus)
    Aves SLC17A51 solute carrier family 17 (anion/sugar transporter), more 75.57(n)
    79.3(a)
      421863  NM_001031086.1  NP_001026257.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC17A56
    solute carrier family 17 (acidic sugar transporter...
    69(a)
    1 ↔ 1
    GL343341.1(68934-86336)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.163552 Xenopus laevis transcribed sequence with weak similarity more 72.85(n)    CF289959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc17a51 solute carrier family 17 (anion/sugar transporter), more 63.9(n)
    65.35(a)
      767760  NM_001076727.1  NP_001070195.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42883
    MFS101
    high affinity inorganic
    phosphate:sodium symporter3
    Major Facilitator Superfamily Transporter 101
    42(a)
    (best of 21)3
    49.54(n)1
    43.34(a)1
      92E143
    322631  NM_132629.11  NP_572857.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK54.13
    C38C10.21
    phosphate transporter3
    C38C10.21
    42(a)
    (best of 16)3
    50.55(n)1
    41.58(a)1
      X(17491722-17497478)3
    1763171  NM_066664.41  NP_499065.11 


    ENSEMBL Gene Tree for SLC17A5 (if available)
    TreeFam Gene Tree for SLC17A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC17A5 gene
    SLC17A72  SLC17A62  SLC17A42  SLC17A12  SLC17A92  SLC17A82  SLC17A32  SLC17A22  
    8 SIMAP similar genes for SLC17A5 using alignment to 3 protein entries:     S17A5_HUMAN (see all proteins):
    SLC17A8    SLC17A3    SLC17A6    SLC17A7    SLC17A2    SLC17A1
    SLC17A4    SLC17A9

    SLC17A5 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), 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 SLC17A5 (see all 1550)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0186894
    Infantile sialic acid storage disorder (ISSD)4--see VAR_0186892 G V mis40--------
    VAR_0186884
    Infantile sialic acid storage disorder (ISSD)4--see VAR_0186882 P R mis40--------
    VAR_0186864
    Infantile sialic acid storage disorder (ISSD)4--see VAR_0186862 H R mis40--------
    VAR_0186844
    Salla disease (SD)4--see VAR_0186842 R C mis40--------
    VAR_0186854
    Salla disease (SD)4--see VAR_0186852 K E mis40--------
    rs5459731,2
    C,F,Hnon-pathogenic174383391(-) ACTTAG/ACAATT 2 /T /A mis19Minor allele frequency- A:0.01MN NS EA NA 1122
    rs803387951,2
    Cpathogenic174380629(-) GGGGGA/G/TAAATG 2 K E mis10--------
    rs803387941,2
    Cpathogenic174383403(-) CTGCTC/TGTTAC 2 R C mis11Minor allele frequency- T:0.00NA 4538
    rs790041121,2
    Cuntested174360637(+) CAGGGA/GTTTTA 2 P S mis10--------
    rs113492411,2
    C--74310232(+) CCTTC-/TTTTTT 1 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for SLC17A5 (74303102 - 74363878 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SLC17A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1085598CNV Deletion17803354
    esv2662522CNV Deletion23128226
    esv2647946CNV Deletion19546169
    esv1724578CNV Insertion17803354
    esv23040CNV Loss19812545
    nsv527357CNV Gain19592680
    nsv886158CNV Gain21882294
    nsv886160CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC17A5
    1 Site Specific Mutation Identification with PCR Assay for SLC17A5:
    Cosmic IdAA Change
    106992p.R364C
    SeqTarget long-range PCR primers for resequencing SLC17A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC17A5

    (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.)
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    OMIM gene information: 604322   
    OMIM disorders: 604369  269920  
    UniProtKB/Swiss-Prot: S17A5_HUMAN, Q9NRA2
  • Salla disease (SD) [MIM:604369]: Sialic acid storage disease (SASD). SASDs are autosomal recessive
    neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused
    by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic
    acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical
    symptoms of SD present usually at age less than 1 year and progression is slow. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Infantile sialic acid storage disorder (ISSD) [MIM:269920]: Severe form of sialic acid storage disease.
    Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These
    patients have a shortened life span, usually less than 2 years. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Note=Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized
    edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops
    fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a
    wide variety of disorders

  • Selected diseases for SLC17A5 (see all 212):    
    About MalaCards
    rocky mountain spotted fever    free sialic acid storage disorders    intermediate severe salla disease    salla disease
    aneurysm of sinus of valsalva    intraocular melanoma    fascioliasis    lichen planus pigmentosus
    infantile free sialic acid storage disease    pancoast tumor    neonatal intrahepatic cholestasis caused by citrin deficiency    kidney fibrosarcoma
    paraquat poisoning    citrin deficiency    subcutaneous panniculitis-like t-cell lymphoma    hemorrhagic fever
    scrub typhus    non-a-e hepatitis    lipoma of colon    uremic pruritus

    2 diseases from the University of Copenhagen DISEASES database for SLC17A5:
    Verbal auditory agnosia     Pelizaeus-Merzbacher disease

    SLC17A5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for SLC17A5 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liver diseases 82.9 73 17669242 (3), 15770731 (2), 17352018 (2), 17379201 (2) (see all 58)
    fatty liver 82 47 7752170 (2), 18223632 (2), 19709695 (2), 19214024 (2) (see all 37)
    liver damage 81.4 30 7913793 (1), 7539393 (1), 16437641 (1), 16731817 (1) (see all 30)
    liver dysfunction 78.5 27 8943756 (2), 18788383 (1), 14500044 (1), 15297742 (1) (see all 16)
    sialic acid storage disease 77.7 11 18399798 (2), 16023578 (2), 19557856 (1), 15172001 (1) (see all 7)
    liver fibrosis 77.4 45 18546525 (2), 10894594 (2), 15485795 (2), 17914968 (2) (see all 29)
    hepatitis c chronic 77.3 17 18309644 (1), 16863553 (1), 16416188 (1), 10894594 (1) (see all 17)
    hepatitis 77.3 71 12499816 (4), 12460038 (3), 14504367 (3), 9439157 (2) (see all 50)
    hepatitis b chronic 74.5 15 8237937 (1), 18025069 (1), 19752878 (1), 20157869 (1) (see all 15)
    hepatitis c 73.3 35 8743227 (1), 11550570 (1), 12385449 (1), 16268817 (1) (see all 31)

    GeneTests: SLC17A5
    GeneReviews: SLC17A5
    Genetic Association Database (GAD): SLC17A5
    Human Genome Epidemiology (HuGE) Navigator: SLC17A5 (4 documents)

    Export disorders for SLC17A5 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 SLC17A5 gene, integrated from 10 sources (see all 1548):
    (articles sorted by number of sources associating them with SLC17A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. (PubMed id 10581036)1, 2, 3, 9 Verheijen F.W....Mancini G.M.S. (Nat. Genet. 1999)
    2. Functional characterization of wild-type and mutant human sialin. (PubMed id 15510212)1, 2, 9 Morin P.... Gasnier B. (EMBO J. 2004)
    3. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (PubMed id 12794687)1, 2, 9 Martin R.A.... Gahl W.A. (Am. J. Med. Genet. A 2003)
    4. The spectrum of SLC17A5-gene mutations resulting in free sialic acid- storage diseases indicates some genotype-phenotype correlation. (PubMed id 10947946)1, 2, 9 Aula N.... Peltonen L. (Am. J. Hum. Genet. 2000)
    5. Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. (PubMed id 22778404)1, 2 Qin L.... Wang S. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Functional characterization of vesicular excitatory amino acid transport by human sialin. (PubMed id 21781115)1, 2 Miyaji T.... Moriyama Y. (J. Neurochem. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes. (PubMed id 20424173)1, 2 Courville P.... Reimer R.J. (J. Biol. Chem. 2010)
    10. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 26503 HGNC: 10933 AceView: SLC17A5 Ensembl:ENSG00000119899 euGenes: HUgn26503
    ECgene: SLC17A5 Kegg: 26503 H-InvDB: SLC17A5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC17A5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC17A5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC17A5 gene:
    Search GeneIP for patents involving SLC17A5

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



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