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SLC1A5 Gene

protein-coding   GIFtS: 68
GCID: GC19M047278

Solute Carrier Family 1 (Neutral Amino Acid Transporter),...


(Previous symbols: RDRC, M7V1)
  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 1 (Neutral Amino Acid Transporter), Member 51 2     M7VS12 5
M7V11 2 3 5     AAAT2
RDRC1 2 3 5     ATBO2
Baboon M7 Virus Receptor2 3     R162
Sodium-Dependent Neutral Amino Acid Transporter Type 22 3     Neutral Amino Acid Transporter B2
Solute Carrier Family 1 Member 52 3     Neutral Amino Acid Transporter B(0)2
ASCT22 3     RD114 Virus Receptor2
ATB(0)2 3     RDR3
RD114/Simian Type D Retrovirus Receptor2 3     

External Ids:    HGNC: 109431   Entrez Gene: 65102   Ensembl: ENSG000001052817   OMIM: 1091905   UniProtKB: Q157583   

Export aliases for SLC1A5 gene to outside databases

Previous GC identifers: GC19M047922 GC19M047669 GC19M051954 GC19M051969 GC19M043702


(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 SLC1A5 Gene:
The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for
RD114/type D retrovirus (Larriba et al., 2001 (PubMed 11781704)).(supplied by OMIM, Jan 2011)

GeneCards Summary for SLC1A5 Gene:
SLC1A5 (solute carrier family 1 (neutral amino acid transporter), member 5) is a protein-coding gene. Diseases associated with SLC1A5 include hartnup disease, and pellagra. GO annotations related to this gene include neutral amino acid transmembrane transporter activity and receptor activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot: AAAT_HUMAN, Q15758
Function: Has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence.
It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and
aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. Acts as
a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian
retroviruses

Gene Wiki entry for SLC1A5 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC1A5 gene promoter:
         SRF   GR   N-Myc   SRF (504 AA)   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC1A5 promoter sequence
   Search Chromatin IP Primers for SLC1A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC1A5


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

SLC1A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M047278:  view genomic region     (about GC identifiers)

Start:
47,278,140 bp from pter      End:
47,291,851 bp from pter
Size:
13,712 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: AAAT_HUMAN, Q15758 (See protein sequence)
Recommended Name: Neutral amino acid transporter B(0)  
Size: 541 amino acids; 56598 Da
Secondary accessions: A8K9H5 B4DR77 B4DWS4 B7ZB81 D0EYG6 E9PC01 O95720 Q96RL9 Q9BWQ3 Q9UNP2
Alternative splicing, Alternative initiation: 3 isoforms:  Q15758-1   Q15758-2   Q15758-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC1A5: NX_Q15758

Explore proteomics data for SLC1A5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys372, Lys502, Lys522, Lys537
  • Glycosylation2 at Asn163, Asn212
  • Modification sites at PhosphoSitePlus

  • See SLC1A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138616.1  NP_001138617.1  NP_005619.1  

    ENSEMBL proteins: 
     ENSP00000444408   ENSP00000406532   ENSP00000469265   ENSP00000397924   ENSP00000468890  
     ENSP00000471626  
    Reactome Protein details: Q15758

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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: Alanine/serine/cysteine transporter 2
    Alanine/serine/cysteine transporter subfamily

    2 InterPro protein domains:
     IPR001991 Na-dicarboxylate_symporter
     IPR018107 Na-dicarboxylate_symporter_CS

    Graphical View of Domain Structure for InterPro Entry Q15758

    ProtoNet protein and cluster: Q15758

    1 Blocks protein domain: IPB001991 Sodium:dicarboxylate symporter

    UniProtKB/Swiss-Prot: AAAT_HUMAN, Q15758
    Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A5 subfamily


    SLC1A5 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: AAAT_HUMAN, Q15758
    Function: Has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence.
    It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and
    aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. Acts as
    a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian
    retroviruses

         Genatlas biochemistry entry for SLC1A5:
    solute carrier family 1 (glutamate/neutral amino acid transport),member 5

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001618virus receptor activity IEA--
    GO:0004872receptor activity TAS10051606
    GO:0015171amino acid transmembrane transporter activity ----
    GO:0015175neutral amino acid transmembrane transporter activity TAS10051606
    GO:0015186L-glutamine transmembrane transporter activity TAS--
         
    SLC1A5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC1A5:
     Increased Salmonella enterica  

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target SLC1A5:
    hsa-mir-16-5p (MIRT031414), hsa-mir-155-5p (MIRT020519), hsa-mir-15b-5p (MIRT046514), hsa-mir-125a-5p (MIRT021298), hsa-mir-193b-3p (MIRT016308), hsa-mir-324-3p (MIRT042960), hsa-mir-1226-3p (MIRT036461), hsa-mir-34a-5p (MIRT025224), hsa-mir-331-3p (MIRT043453)

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    6 qRT-PCR Assays for microRNAs that regulate SLC1A5:
    hsa-miR-3659 hsa-miR-4324 hsa-miR-137 hsa-miR-122 hsa-miR-634 hsa-miR-2355-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC1A5 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
    AAAT_HUMAN, Q15758: Membrane; Multi-pass membrane protein (Probable). Melanosome. Note=Identified by mass
    spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    plasma membrane4
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8702519
    GO:0016020membrane TAS8702519
    GO:0042470melanosome IEA--

    SLC1A5 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 SLC1A5 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
    Amino acid transport across the plasma membrane0.32
    2Sodium channels and transporters inward current
    Sodium channels and transporters inward current
    3Protein digestion and absorption
    Protein digestion and absorption
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SLC1A5
        Glucose / Energy Metabolism

    1 Reactome Pathway for SLC1A5
        Amino acid transport across the plasma membrane


    1 Kegg Pathway  (Kegg details for SLC1A5):
        Protein digestion and absorption


    SLC1A5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC1A5
    Interactions:

        GeneGlobe Interaction Network for SLC1A5

    Selected Interacting proteins for SLC1A5 (Q157582, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBC1D17Q9HA652, 3MINT-64262 I2D: score=3 
    MAP3K1Q132332, 3MINT-48298 I2D: score=2 
    TNFRSF1AP194382, 3MINT-49317 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49401 I2D: score=2 
    MPDU1O753523I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006811ion transport TAS--
    GO:0006835dicarboxylic acid transport ----
    GO:0006860extracellular amino acid transport IEA--
    GO:0006865amino acid transport TAS--

    SLC1A5 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 SLC1A5 (AAAT)

    3 HMDB Compounds for SLC1A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Asparagine(-)-Asparagine (see all 32)70-47-3--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for SLC1A5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9transportersubstrate17046712 16516348 16197915 17127344 17094966
    L-Asparagine(-)-Asparagine (see all 15)70-47-3target--15581847 17094966

    3 IUPHAR Ligands for SLC1A5 (Alanine/serine/cysteine transporter 2)    About this table
    LigandTypeActionAffinityPubmed IDs
    p-nitrophenyl glutamyl anilide
    InhibitorInhibition15670919
    benzylcysteine
    InhibitorInhibition15107471
    benzylserine
    InhibitorInhibition15107471

    4 Novoseek inferred chemical compound relationships for SLC1A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 35.1 6 11746424 (2), 17311416 (1)
    alanine 34.2 7 17311416 (3), 11746424 (1)
    glutamate 32.8 3 12372536 (1), 14530974 (1)
    serine 8.26 2 11746424 (1)



    SLC1A5 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 SLC1A5 gene (3 alternative transcripts): 
    NM_001145144.1  NM_001145145.1  NM_005628.2  

    Unigene Cluster for SLC1A5:

    Solute carrier family 1 (neutral amino acid transporter), member 5
    Hs.631582  [show with all ESTs]
    Unigene Representative Sequence: U53347
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000542575(uc002pfs.3) ENST00000434726(uc010xyh.2 uc002pfq.3)
    ENST00000594991 ENST00000412532(uc002pfr.3) ENST00000593713 ENST00000598022

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    SwitchGear 3'UTR luciferase reporter plasmidSLC1A5 3' UTR sequence
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    Additional mRNA sequence: 

    AB209738.1 AB593173.1 AF102826.1 AF105230.1 AF105423.1 AF334818.1 AK055630.1 AK125222.1 
    AK292690.1 AK293433.1 AK299137.1 AK301661.1 AK316546.1 BC000062.2 GQ919058.1 U53347.1 

    Selected DOTS entries (see all 26):

    DT.100031493  DT.100695419  DT.100820760  DT.453708  DT.91833444  DT.100820745  DT.100820744  DT.121479977 
    DT.100820757  DT.91769263  DT.100820754  DT.100820750  DT.100820759  DT.91836751  DT.100820743  DT.91769275 
    DT.95174076  DT.97780907  DT.100820761  DT.121479951  DT.100820752  DT.100820753  DT.100820763  DT.121480226 

    Selected AceView cDNA sequences (see all 602):

    BQ644252 AL521908 BX462261 AK125222 BU955789 BM850976 BM721557 BE614911 
    BX458606 BE504576 BM743723 BU957296 AL560313 BU159534 BM553411 BM772638 
    BE262194 BU168366 BG333262 BM739175 AU124591 BU957488 BU956703 BQ682154 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A5 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC1A5

    (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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    SLC1A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACGTCCCA
    SLC1A5 Expression
    About this image


    SLC1A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
    SLC1A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC1A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631582

    UniProtKB/Swiss-Prot: AAAT_HUMAN, Q15758
    Tissue specificity: Placenta, lung, skeletal muscle, kidney, pancreas, and intestine

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC1A5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc1a51 , 5 solute carrier family 1 (neutral amino acid transporter), more1, 5 81.29(n)1
    83.83(a)1
      7 (9.15 cM)5
    205141  NM_009201.21  NP_033227.21 
     167813465 
    lizard
    (Anolis carolinensis)
    Reptilia SLC1A56
    solute carrier family 1 (neutral amino acid transp...
    67(a)
    1 ↔ 1
    GL343566.1(302257-342392)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc1a51 solute carrier family 1 (neutral amino acid transporter), more 69.29(n)
    75.52(a)
      493489  NM_001008126.1  NP_001008127.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005358411 neutral amino acid transporter B(0)-like 67.18(n)
    69.8(a)
      100535841  XM_003200016.2  XP_003200064.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eaat13 sodium/excitatory glutamate
    cotransporter
    38(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea W03G1.13 amino acid transporter 32(a)   IV(531999-533645)   --


    ENSEMBL Gene Tree for SLC1A5 (if available)
    TreeFam Gene Tree for SLC1A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC1A5 gene
    SLC1A32  SLC1A72  SLC1A12  SLC1A22  SLC1A42  SLC1A62  
    6 SIMAP similar genes for SLC1A5 using alignment to 5 protein entries:     AAAT_HUMAN (see all proteins):
    SLC1A4    SLC1A1    SLC1A3    SLC1A2    SLC1A7    SLC1A6

    SLC1A5 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 SLC1A5 (see all 402)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116731981,2
    C,H--47277712(+) gatctC/Tggctc 3 -- ds50010--------
    rs1506906461,2
    --47277766(+) AGCCTC/TCTGAG 3 -- ds50010--------
    rs116659261,2
    C,A,H--47277816(+) TTTTTG/ATATTT 3 -- ds50013Minor allele frequency- A:0.00NA WA CSA 5
    rs621348381,2
    C,F--47277891(+) CCCGCT/CTCGGC 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs1895240891,2
    --47277969(+) GAGACA/GATGTC 3 -- ds50010--------
    rs1807664081,2
    --47278069(+) CAGTGC/GTGTTT 3 -- ds50010--------
    rs1850162411,2
    C--47278070(+) AGTGGC/TGTTTC 3 -- ds50010--------
    rs1171581281,2
    C,F--47278198(+) AGCAGG/ATATTT 3 -- ut311Minor allele frequency- A:0.02EA 120
    rs1438578411,2
    --47278283(+) TGGGAC/TGTACC 3 -- ut310--------
    rs1902648921,2
    --47278284(+) GGGACA/GTACCA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC1A5 (47278140 - 47291851 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC1A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1008167CNV Deletion20482838
    nsv833850CNV Loss17160897
    dgv3961n71CNV Loss21882294
    nsv912190CNV Gain21882294

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    (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: 109190    OMIM disorders: --

    17 diseases for SLC1A5:    
    About MalaCards
    hartnup disease    pellagra    cystinuria    placental choriocarcinoma
    phenylketonuria    choriocarcinoma    pre-eclampsia    eclampsia
    cystic fibrosis    hypoxia    schizophrenia    tuberculosis
    tonsillitis    cerebritis    lung cancer    neuronitis
    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for SLC1A5:
    Hartnup disease     Cystinuria     Pellagra

    SLC1A5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SLC1A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 1 12664292 (1)

    Genetic Association Database (GAD): SLC1A5
    Human Genome Epidemiology (HuGE) Navigator: SLC1A5 (1 document)

    Export disorders for SLC1A5 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 SLC1A5 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with SLC1A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. (PubMed id 10051606)1, 2, 3, 9 Rasko J.E.J.... Miller A.D. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line. (PubMed id 8702519)1, 2, 3, 9 Kekuda R.... Ganapathy V. (J. Biol. Chem. 1996)
    3. Truncated forms of the dual function human ASCT2 neutral amino acid transporter/retroviral receptor are translationally initiated at multiple alternative CUG and GUG codons. (PubMed id 11350958)1, 2, 9 Tailor C.S.... Kabat D. (J. Biol. Chem. 2001)
    4. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. (PubMed id 18638388)1, 4, 9 Deng X....Fukumaki Y. (BMC Psychiatry 2008)
    5. High-affinity glutamate transporter GLAST/EAAT1 regulates cell surface expression of glutamine/neutral amino acid transporter ASCT2 in human fetal astrocytes. (PubMed id 16516348)1, 7 Gegelashvili M....Gegelashvili G. (Neurochem. Int. 2006)
    6. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Identification of the promoter elements involved in the stimulation of ASCT2 expression by glutamine availability in HepG2 cells and the probable involvement of FXR/RXR dimers. (PubMed id 16197915)1, 7 Bungard C.I. and McGivan J.D. (Arch. Biochem. Biophys. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 6510 HGNC: 10943 AceView: SLC1A5 Ensembl:ENSG00000105281 euGenes: HUgn6510
    ECgene: SLC1A5 Kegg: 6510 H-InvDB: SLC1A5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC1A5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC1A5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC1A5 gene:
    Search GeneIP for patents involving SLC1A5

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



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