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

SLC7A9 Gene

protein-coding   GIFtS: 64
GCID: GC19M033321

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


(Previous symbol: CSNU3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 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,+)AT3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Amino acid transport across the plasma membrane and Transmembrane transport of small molecules. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC7A9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P82251

  • SLC7A9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC7A9 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001119807.1  NP_001229965.1  NP_055085.1  

    ENSEMBL proteins: 
     ENSP00000464822   ENSP00000468076   ENSP00000023064   ENSP00000465563   ENSP00000468439  
     ENSP00000464726  
    Reactome Protein details: P82251
    Human Recombinant Protein Products for SLC7A9: 
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    Cloud-Clone Corp. Proteins for SLC7A9 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10471498
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    SLC7A9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC7A9 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    4Protein digestion and absorption
    Protein digestion and absorption
    5Basigin interactions
    Basigin interactions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for SLC7A9 (see all 8)
        Hemostasis
    Transmembrane transport of small molecules
    SLC-mediated transmembrane transport
    Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides


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


    SLC7A9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A9

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

    5/72 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): 5/11 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC7A9 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SLC7A9 / BAT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    Unigene Cluster for SLC7A9:

    Solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
    Hs.743345  [show with all ESTs]
    Unigene Representative Sequence: AF141289
    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
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    Additional mRNA sequence: 

    AB033548.1 AF141289.1 AJ249199.1 AK026446.1 AK223147.1 AK313708.1 AL365340.1 AL365341.1 
    AY170373.1 BC017962.1 

    3 DOTS entries:

    DT.75101211  DT.91801189  DT.40249011 

    24/35 AceView cDNA sequences (see all 35):

    AY170373 BI769541 AI478181 AI674979 AF141289 NM_014270 BC017962 AB033548 
    BI517890 AI373263 AL365341 BE048789 AW300149 BG428597 AA910740 BF222812 
    AJ249199 BC029802 AL365340 BI762874 AW614352 AK026446 R07018 AI261833 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC7A9 expression in normal human tissues (normalized intensities)      SLC7A9 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine   
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule
     
     Liver (Hepatobiliary System)

    See SLC7A9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A9

    SOURCE GeneReport for Unigene cluster: Hs.743345

    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
    Tissue specificity: Kidney, small intestine, liver and placenta

        SABiosciences Expression via Pathway-Focused PCR Array including SLC7A9: 
              Drug Transporters in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC7A9 gene from 5/16 species (see all 16)    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_001199015.11  NP_001185944.11 
     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
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343483.1(112517-128265)
    zebrafish
    (Danio rerio)
    Actinopterygii slc7a91 solute carrier family 7 (cationic amino acid transporter, more 67.67(n)
    70.32(a)
      567117  XM_690408.2  XP_695500.2 
    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 


    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)
    About This Section
    Paralogs for SLC7A9 gene
    SLC7A72  SLC7A62  SLC7A112  SLC7A82  SLC7A52  SLC7A132  SLC7A102  
    10 SIMAP similar genes for SLC7A9 using alignment to 3 protein entries:     BAT1_HUMAN (see all proteins):
    SLC7A7    hxCT    lat1    SLC7A5    SLC7A10    SLC7A11
    SLC7A6    SLC7A8    DKFZp686K14185    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1109 SNPs in SLC7A9 are shown (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
    ----------
    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--------
    VAR_0102604
    Cystinuria (CSNU)4--see VAR_0102602 G R mis40--------
    VAR_0226034
    Cystinuria (CSNU)4--see VAR_0226032 A V mis40--------
    VAR_0190134
    Cystinuria (CSNU)4--see VAR_0190132 A T 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC7A9
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A9

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

  • 9 diseases for SLC7A9:    About MalaCards
    cystinuria    aminoaciduria    nephrolithiasis    pyelonephritis
    hyperparathyroidism    kidney disease    atopic dermatitis    dermatitis
    ataxia

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

    SLC7A9 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC7A9 gene, integrated from 9 sources (see all 113):
    (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. (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. (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. (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. (2006)
    5. SLC7A9 mutations in all three cystinuria subtypes. (PubMed id 12371955)1, 2, 9 Leclerc D.... Rozen R. (2002)
    6. Large rearrangements detected by MLPA, point mutation s, 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. (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. (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. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11136 HGNC: 11067 AceView: SLC7A9 Ensembl:ENSG00000021488 euGenes: HUgn11136
    ECgene: SLC7A9 Kegg: 11136 H-InvDB: SLC7A9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC7A9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A9

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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