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SLC7A9 Gene

protein-coding   GIFtS: 62
GCID: GC19M033321

Solute Carrier Family 7 (Amino Acid Transporter Light Chain,...


(Previous symbol: CSNU3)
Pneumococci & Pneumococcal Diseases Congress
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(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 7 (Amino Acid Transporter Light Chain, Bo,+
System), Member 91 2
     b(0,+)AT2
CSNU31 2 5     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System),
Member 92
Glycoprotein-Associated Amino Acid Transporter B0,+AT12 3     Solute Carrier Family 7 (Glycoprotein-Associated Amino Acid Transporter
Light Chain, Bo,+ System), Member 92
BAT12 3     b(0,+)AT13
B(0,+)-Type Amino Acid Transporter 12     Solute Carrier Family 7 Member 93

External Ids:    HGNC: 110671   Entrez Gene: 111362   Ensembl: ENSG000000214887   OMIM: 6041445   UniProtKB: P822513   

Export aliases for SLC7A9 gene to outside databases

Previous GC identifers: GC19M033939 GC19M033770 GC19M037997 GC19M038013 GC19M029823


(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 SLC7A9 Gene:
This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein
plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino
acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause
non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of
cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found
for this gene. (provided by RefSeq, Jul 2011)

GeneCards Summary for SLC7A9 Gene:
SLC7A9 (solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9) is a protein-coding gene. Diseases associated with SLC7A9 include cystinuria, and aminoaciduria. GO annotations related to this gene include neutral amino acid transmembrane transporter activity and peptide antigen binding. An important paralog of this gene is SLC7A7.

UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino
acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in
the kidney tubule




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the SLC7A9 gene promoter:
         RFX1   AML1a   RelA   LUN-1   LCR-F1   C/EBPalpha   MEF-2A   Chx10   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC7A9 promoter sequence
   Search Chromatin IP Primers for SLC7A9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC7A9


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.11

SLC7A9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A9 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M033321:  view genomic region     (about GC identifiers)

Start:
33,321,415 bp from pter      End:
33,360,683 bp from pter
Size:
39,269 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: BAT1_HUMAN, P82251 (See protein sequence)
Recommended Name: b(0,+)-type amino acid transporter 1  
Size: 487 amino acids; 53481 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1 (By
similarity)
Secondary accessions: B2R9A6

Explore the universe of human proteins at neXtProt for SLC7A9: NX_P82251

Explore proteomics data for SLC7A9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC7A9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001119807.1  NP_001229965.1  NP_055085.1  

    ENSEMBL proteins: 
     ENSP00000464822   ENSP00000468076   ENSP00000023064   ENSP00000465563   ENSP00000468439  
    Reactome Protein details: P82251

    SLC7A9 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SLC7A9
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    Novus Biologicals SLC7A9 Protein
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    Cloud-Clone Corp. Proteins for SLC7A9

    SLC7A9 Antibody Products:

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    SLC7A9 Assay Products:

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    Cloud-Clone Corp. ELISAs for SLC7A9
    Cloud-Clone Corp. CLIAs for SLC7A9


    (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: B0,+-type amino acid transporter 1
    SLC7 family

    1 InterPro protein domain:
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry P82251

    ProtoNet protein and cluster: P82251

    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily


    SLC7A9 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: BAT1_HUMAN, P82251
    Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino
    acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in
    the kidney tubule

         Genatlas biochemistry entry for SLC7A9:
    solute carrier family,member A9,amino acid transporter,expressed in kidney,liver,small intestine and
    placenta,BO+AT subunit heterodimerizing with 2BAT (SLC3A1) located in the brush border of the plasma membrane of
    epithelial cells of the proximal straight tubule of the nephron,mediating high affinity y+L-type transporter
    exchanging cationic aminoacids and/or neutral aminoacids,sodium independent transport system for cationic and
    dipolar aminoacids

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12167606
    GO:0015171amino acid transmembrane transporter activity TAS10799513
    GO:0015175neutral amino acid transmembrane transporter activity ISS--
    GO:0015184L-cystine transmembrane transporter activity TAS10471498
    GO:0042605peptide antigen binding ISS--
         
    SLC7A9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC7A9:
     Decreased viability with pacli 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc7a9):
     homeostasis/metabolism  immune system  renal/urinary system 

    SLC7A9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc7a9tm1Nune for SLC7A9

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC7A9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC7A9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC7A9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC7A9

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC7A9:
    hsa-mir-335-5p (MIRT017909)

    Block miRNA regulation of human, mouse, rat SLC7A9 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SLC7A9
    SwitchGear 3'UTR luciferase reporter plasmidSLC7A9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC7A9
    Predesigned siRNA for gene silencing in human, mouse, rat SLC7A9

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SLC7A9 (NM_001126335)
    Sino Biological Human cDNA Clone for SLC7A9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC7A9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A9

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A9


    (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
    BAT1_HUMAN, P82251: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10471498
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0031526brush border membrane IDA12167606

    SLC7A9 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 SLC7A9 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
    2Hemostasis
    Hemostasis0.43
    3Protein digestion and absorption
    Protein digestion and absorption
    4Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall
    5Basigin interactions
    Basigin interactions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for SLC7A9
        Amino acid transport across the plasma membrane
    Basigin interactions


    1 Kegg Pathway  (Kegg details for SLC7A9):
        Protein digestion and absorption


    SLC7A9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A9: 
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC7A9

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for SLC7A9 (P822512, 3 ENSP000000230644) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    GNAI1P630963I2D: score=4 
    GPX4P369693I2D: score=4 
    HSP90AA1P079003I2D: score=3 
    DUSP12Q9UNI63I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006461protein complex assembly TAS10799513
    GO:0006520cellular amino acid metabolic process TAS10471498
    GO:0006810transport TAS10799513
    GO:0006811ion transport TAS--

    SLC7A9 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 SLC7A9 (BAT1)

    2 HMDB Compounds for SLC7A9    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Cystine(-)-Cystine (see all 31)56-89-3--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC7A9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cystine(-)-Cystine (see all 5)56-89-3target--17139284 17016423

    1 Novoseek inferred chemical compound relationship for SLC7A9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystine 89.6 8 10810228 (1), 11396607 (1), 12371955 (1), 12621979 (1) (see all 8)



    SLC7A9 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 SLC7A9 gene (3 alternative transcripts): 
    NM_001126335.1  NM_001243036.1  NM_014270.4  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590341 ENST00000590465 ENST00000023064(uc002ntt.4 uc002ntv.4 uc002ntu.4 uc021usa.1 uc002ntw.4)
    ENST00000592232 ENST00000587772 ENST00000589659

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC7A9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC7A9
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    GenScript: all cDNA clones in your preferred vector (see all 2): SLC7A9 (NM_001126335)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC7A9
      QuantiTect SYBR Green Assays in human, mouse, rat SLC7A9
      QuantiFast Probe-based Assays in human, mouse, rat SLC7A9

    Selected AceView cDNA sequences (see all 35):

    AY170373 AF141289 AI674979 AB033548 AI478181 NM_014270 BC017962 BI769541 
    BF222812 AA910740 BI517890 AW300149 AL365341 AJ249199 BI762874 AW614352 
    BC029802 AK026446 BE048789 AL365340 BG428597 AI373263 R07018 AI769515 

    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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    SLC7A9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTTCAGA
    SLC7A9 Expression
    About this image


    SLC7A9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     Liver (Hepatobiliary System)
    SLC7A9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC7A9 Protein Expression

    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
    Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Kidney, small
    intestine, liver and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A9: 
              Drug Transporters in human mouse rat

    Primer
    Products:
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    QuantiTect SYBR Green Assays in human, mouse, rat SLC7A9
    QuantiFast Probe-based Assays in human, mouse, rat SLC7A9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A9

    (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 and fungi.

    Orthologs for SLC7A9 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc7a91 , 5 solute carrier family 7 (cationic amino acid transporter, more1, 5 83.44(n)1
    86.86(a)1
      7 (21.37 cM)5
    309621  NM_021291.31  NP_067266.11 
     354490375 
    chicken
    (Gallus gallus)
    Aves SLC7A91 solute carrier family 7 (glycoprotein-associated amino more 71.18(n)
    78.03(a)
      415768  NM_001199133.1  NP_001186062.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC7A96
    solute carrier family 7 (amino acid transporter li...
    79(a)
    1 ↔ 1
    GL343483.1(112517-128265)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc7a91 solute carrier family 7 (amino acid transporter light more 70.36(n)
    79.26(a)
      779955  NM_001079032.1  NP_001072500.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc7a91 solute carrier family 7 (cationic amino acid transporter, more 67.01(n)
    68.46(a)
      567117  XM_005169023.1  XP_005169080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG94131 , 3 amino acid transporter3
    CG94131
    56(a)
    (best of 3)3
    57.12(n)1
    55.16(a)1
      12F13
    323971  NM_132738.21  NP_572966.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C8.13 integral membrane protein E16 like 42(a)
    (best of 8)
      IV(9599614-9601874)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MUP1(YGR055W)4 High affinity methionine permease, integral membrane more   --   7(599417-601141) 852946  NP_011569.1 


    ENSEMBL Gene Tree for SLC7A9 (if available)
    TreeFam Gene Tree for SLC7A9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC7A9 gene
    SLC7A72  SLC7A62  SLC7A112  SLC7A82  SLC7A52  SLC7A132  SLC7A102  
    9 SIMAP similar genes for SLC7A9 using alignment to 2 protein entries:     BAT1_HUMAN (see all proteins):
    SLC7A6    SLC7A7    hxCT    SLC7A10    SLC7A8    SLC7A11
    SLC7A5    lat1    SLC7A13

    SLC7A9 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 SLC7A9 (see all 1109)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs793893531,2,,4
    C,FCystinuria (CSNU)4 pathogenic133510670(+) GGCCGC/TGGTGA 6 T A mis12Minor allele frequency- T:0.00NA EU 5873
    rs799870781,2,,4
    CCystinuria (CSNU)4 pathogenic133512356(+) AGGACG/ATGGGC 6 /T /M mis12Minor allele frequency- A:0.00NA 4656
    rs1219084801,2,,4
    C,FCystinuria (CSNU)4 pathogenic133512411(-) CCTACG/AGGCCC 6 /R /G mis11Minor allele frequency- A:0.00NA 4518
    VAR_0190054
    Cystinuria (CSNU)4--see VAR_0190052 I F mis40--------
    VAR_0190084
    Cystinuria (CSNU)4--see VAR_0190082 W R mis40--------
    VAR_0102574
    Cystinuria (CSNU)4--see VAR_0102572 V M mis40--------
    VAR_0143634
    Cystinuria (CSNU)4--see VAR_0143632 I T mis40--------
    VAR_0190034
    Cystinuria (CSNU)4--see VAR_0190032 A T mis40--------
    VAR_0143654
    Cystinuria (CSNU)4--see VAR_0143652 A T mis40--------
    VAR_0189984
    Cystinuria (CSNU)4--see VAR_0189982 P L mis40--------

    HapMap Linkage Disequilibrium report for SLC7A9 (33321415 - 33360683 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC7A9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516922CNV Loss19592680
    nsv911576CNV Loss21882294
    nsv911577CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC7A9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC7A9
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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: 604144   
    OMIM disorders: 220100  
    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
  • Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport
    of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and
    gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of
    calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for SLC7A9:    
    About MalaCards
    cystinuria    aminoaciduria    nephrolithiasis    pyelonephritis
    hyperparathyroidism    kidney disease    atopic dermatitis    dermatitis
    ataxia    mental retardation    multiple myeloma    malaria
    myeloma

    2 diseases from the University of Copenhagen DISEASES database for SLC7A9:
    Cystinuria     Nephrolithiasis

    SLC7A9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    2 Novoseek inferred disease relationships for SLC7A9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystinuria 98.7 99 12371955 (6), 10471498 (4), 11157794 (4), 16609684 (4) (see all 45)
    aminoaciduria 75.4 1 11396607 (1)

    Genetic Association Database (GAD): SLC7A9
    Human Genome Epidemiology (HuGE) Navigator: SLC7A9 (12 documents)

    Export disorders for SLC7A9 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 SLC7A9 gene, integrated from 10 sources (see all 115):
    (articles sorted by number of sources associating them with SLC7A9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. (PubMed id 12820697)1, 2, 4, 9 Harnevik L.... Soderkvist P. (Genet. Test. 2003)
    2. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. (PubMed id 10471498)1, 2, 3, 9 Feliubadalo L....Palacin M. (Nat. Genet. 1999)
    3. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. (PubMed id 12234283)1, 2, 9 Botzenhart E.... Eggermann T. (Kidney Int. 2002)
    4. A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. (PubMed id 16609684)1, 4, 9 Shigeta Y....Endou H. (Kidney Int. 2006)
    5. SLC7A9 mutations in all three cystinuria subtypes. (PubMed id 12371955)1, 2, 9 Leclerc D.... Rozen R. (Kidney Int. 2002)
    6. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. (PubMed id 19782624)1, 4, 9 Bisceglia L....Zelante L. (Mol. Genet. Metab. 2010)
    7. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria. (PubMed id 11157794)1, 2, 9 Font M.... Palacin M. (Hum. Mol. Genet. 2001)
    8. Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls. (PubMed id 12779097)1, 4, 9 Schmidt C....Zappel H.F. (Clin. Nephrol. 2003)
    9. The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. (PubMed id 14991253)1, 4, 9 Schmidt C....Eggermann T. (Urol. Res. 2004)
    10. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. (PubMed id 12239244)1, 4, 9 Dello Strologo L....Rizzoni G. (J. Am. Soc. Nephrol. 2002)

    (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)
    About This Section

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    Entrez Gene: 11136 HGNC: 11067 AceView: SLC7A9 Ensembl:ENSG00000021488 euGenes: HUgn11136
    ECgene: SLC7A9 Kegg: 11136 H-InvDB: SLC7A9

    (According to HUGE)
    About This Section

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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 SLC7A9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC7A9[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 SLC7A9 gene:
    Search GeneIP for patents involving SLC7A9

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



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