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SLC3A1 Gene

protein-coding   GIFtS: 65
GCID: GC02P044503

Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain),...

(Previous names: solute carrier family 3 (cystine, dibasic and neutral amino...)
  See SLC3A1-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 3 (Amino Acid Transporter Heavy Chain), Member
11 2
     Neutral And Basic Amino Acid Transport Protein RBAT2
NBAT2 3 5     SLC3A1 Variant B2
Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid
Transporters, Activator Of Cystine, Dibasic And Neutral Amino Acid
Transport), Member 11 2
     SLC3A1 Variant C2
B(0,+)-Type Amino Acid Transport Protein2 3     SLC3A1 Variant D2
Solute Carrier Family 3 Member 12 3     SLC3A1 Variant E2
RBAT2 3     SLC3A1 Variant F2
ATR12 5     SLC3A1 Variant G2
D2H2 5     Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid
Transporters), Member 12
CSNU12     D2h3
Amino Acid Transporter 12     

External Ids:    HGNC: 110251   Entrez Gene: 65192   Ensembl: ENSG000001380797   OMIM: 1046145   UniProtKB: Q078373   

Export aliases for SLC3A1 gene to outside databases

Previous GC identifers: GC02P044501 GC02P044671 GC02P044477 GC02P044414 GC02P044356 GC02P044239


(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 SLC3A1 Gene:
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid
transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations
and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been
described, but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC3A1 Gene:
SLC3A1 (solute carrier family 3 (amino acid transporter heavy chain), member 1) is a protein-coding gene. Diseases associated with SLC3A1 include 2p21 microdeletion syndrome, and atypical hypotonia - cystinuria syndrome. GO annotations related to this gene include L-cystine transmembrane transporter activity and protein heterodimerization activity. An important paralog of this gene is SLC3A2.

UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837
Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino
acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity
reabsorption of cystine in the kidney tubule

Gene Wiki entry for SLC3A1 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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC3A1 gene promoter:
         AML1a   CUTL1   HNF-1A   MEF-2A   POU2F1   POU2F1a   HNF-1   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC3A1 promoter sequence
   Search Chromatin IP Primers for SLC3A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC3A1


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

Entrez Gene cytogenetic band: 2p16.3   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p16.3

SLC3A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC3A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P044503:  view genomic region     (about GC identifiers)

Start:
44,502,597 bp from pter      End:
44,548,633 bp from pter
Size:
46,037 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837 (See protein sequence)
Recommended Name: Neutral and basic amino acid transport protein rBAT  
Size: 685 amino acids; 78852 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC7A9
Secondary accessions: A8K0S1 O00658 Q15295 Q52M92 Q52M94

Explore the universe of human proteins at neXtProt for SLC3A1: NX_Q07837

Explore proteomics data for SLC3A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn214, Asn261, Asn332, Asn495, Asn513, Asn575
  • Modification sites at PhosphoSitePlus

  • See SLC3A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000332.2  
    ENSEMBL proteins: 
     ENSP00000260649   ENSP00000387308   ENSP00000387337   ENSP00000386954   ENSP00000386620  
     ENSP00000386709   ENSP00000391642   ENSP00000386852   ENSP00000386677  
    Reactome Protein details: Q07837

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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: RBAT
    SLC3 family

    5 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR006047 Glyco_hydro_13_cat_dom
     IPR013781 Glyco_hydro_catalytic_dom
     IPR015902 Glyco_hydro_13
     IPR006589 Glyco_hydro_13_sub_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q07837

    ProtoNet protein and cluster: Q07837

    1 Blocks protein domain: IPB006589 Alpha amylase


    Find genes that share domains with SLC3A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SLC31_HUMAN, Q07837
    Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino
    acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity
    reabsorption of cystine in the kidney tubule

         Genatlas biochemistry entry for SLC3A1:
    solute carrier family 3 (cystine/dibasic,neutral aminoacid transport),member 1,expressed (noteworthy) in kidney
    and small intestine,heterodimerizing with BO+AT (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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0005515protein binding IPI12167606
    GO:0015171amino acid transmembrane transporter activity TAS10799513
    GO:0015174basic amino acid transmembrane transporter activity TAS8054986
    GO:0015184L-cystine transmembrane transporter activity TAS8054986
         
    Find genes that share ontologies with SLC3A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC3A1:
     Increased circadian period len 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc3a1):
     adipose tissue  growth/size/body  homeostasis/metabolism  immune system  renal/urinary system 
     skeleton 

    Find genes that share phenotypes with SLC3A1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC3A1

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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
    SLC31_HUMAN, Q07837: Membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    mitochondrion2
    vacuole2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005774vacuolar membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0016020membrane TAS8054986

    Find genes that share ontologies with SLC3A1           About GenesLikeMe


    (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 SLC3A1 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
    2Protein digestion and absorption
    Protein digestion and absorption


    Find genes that share SuperPaths with SLC3A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC3A1
        Amino acid transport across the plasma membrane


    1 Kegg Pathway  (Kegg details for SLC3A1):
        Protein digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC3A1: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC3A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for SLC3A1 (Q078373 ENSP000002606494) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC7A8Q9UHI53, ENSP000003203784I2D: score=1 STRING: ENSP00000320378
    MARCH6O603373I2D: score=3 
    NEDD4LQ96PU53I2D: score=3 
    PIN1Q135263I2D: score=3 
    PRPF40AO754003I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport TAS10799513
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006520cellular amino acid metabolic process TAS8054986
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--

    Find genes that share ontologies with SLC3A1           About GenesLikeMe



    (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 Tocris compounds for SLC3A1 (SLC31)

    2 HMDB Compounds for SLC3A1    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 SLC3A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cystine(-)-Cystine (see all 5)56-89-3target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for SLC3A1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystine 93.1 59 12763038 (4), 9830050 (3), 8631857 (3), 18074125 (3) (see all 35)
    ornithine 64.7 1 8911353 (1)
    arginine 58.9 7 12234930 (2), 8663184 (1), 12763038 (1), 10471498 (1) (see all 6)
    lysine 52 1 8911353 (1)
    leucine 32.4 2 8663184 (1), 19352062 (1)
    n-ethylmaleimide 26.5 5 11042122 (1), 8836138 (1), 10493926 (1)
    phenylalanine 17.4 1 7477014 (1)
    cysteine 15 2 11042122 (1), 11943479 (1)
    deoxyribonucleic acid 13.8 2 11417227 (1), 9768685 (1)
    alanine 4.59 4 8825523 (3)



    Find genes that share compounds with SLC3A1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC3A1 gene: 
    NM_000341.3  

    Unigene Cluster for SLC3A1:

    Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
    Hs.112916  [show with all ESTs]
    Unigene Representative Sequence: DQ023516
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260649(uc002rtz.2 uc002ruc.4) ENST00000409387(uc002rub.2)
    ENST00000410056(uc002rty.3) ENST00000409741 ENST00000409229(uc002rua.3)
    ENST00000409380(uc002rud.4) ENST00000427285 ENST00000409294 ENST00000409740(uc002rue.4)

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    Additional mRNA sequence: 

    AB033549.1 AK091932.1 AK092000.1 AK223146.1 AK289636.1 AK309145.1 AK313157.1 BC022386.1 
    BC093624.1 BC093626.1 DQ023512.1 DQ023513.1 DQ023514.1 DQ023515.1 DQ023516.1 DQ023517.1 
    L11696.1 M95548.1 

    15 DOTS entries:

    DT.319926  DT.95075504  DT.95111192  DT.418708  DT.91752711  DT.95214944  DT.100791496  DT.75108190 
    DT.75109248  DT.91752693  DT.97809448  DT.100668408  DT.120945884  DT.92336940  DT.91752690 

    Selected AceView cDNA sequences (see all 70):

    CB163282 AI240946 AI748784 AI928029 BX100432 AL709339 CB157211 L11696 
    AA954167 BP383441 BV183410 AL037535 BG181538 BP383341 BG217972 CF529284 
    AI302806 AW779968 CF528470 NM_000341 AK092000 AA740324 BC022386 BG426700 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC3A1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for SLC3A1

    (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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    SLC3A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTTGGTG
    SLC3A1 Expression
    About this image


    SLC3A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Pancreas (Endocrine System)
    SLC3A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC3A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112916

    UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837
    Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Predominantly
    expressed in the kidney, small intestine and pancreas. Weakly expressed in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC3A1: 
              Drug Transporters in human mouse rat

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    In Situ
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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 and fungi.

    Orthologs for SLC3A1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc3a11 , 5 solute carrier family 3, member 11, 5 81.87(n)1
    80.56(a)1
      17 (55.17 cM)5
    205321  NM_009205.21  NP_033231.21 
     850283475 
    chicken
    (Gallus gallus)
    Aves SLC3A11 solute carrier family 3 (cystine, dibasic and neutral more 66.47(n)
    61.35(a)
      428569  XM_426125.4  XP_426125.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC3A16
    solute carrier family 3 (amino acid transporter he...
    61(a)
    1 ↔ 1
    GL343231.1(2165059-2188335)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc3a11 solute carrier family 3 (amino acid transporter heavy more 61.29(n)
    56.6(a)
      780365  NM_001079435.1  NP_001072903.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc3a11 solute carrier family 3 (cystine, dibasic and neutral more 57.8(n)
    55.48(a)
      557757  XM_680877.4  XP_685969.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303593
    Mal-B21
    Maltase B21 41(a)
    (best of 10)3
    48.47(n)1
    39.69(a)1
      44D13
    345981  NM_135679.51  NP_609523.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IMA1(YGR287C)4 Major isomaltase (alpha-1,6-glucosidase) required for more   --   7(1068991-1067222) 853204  NP_011803.1 


    ENSEMBL Gene Tree for SLC3A1 (if available)
    TreeFam Gene Tree for SLC3A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC3A1 gene
    SLC3A22  
    1 SIMAP similar gene for SLC3A1 using alignment to 12 protein entries:     SLC31_HUMAN (see all proteins):
    NF2

    Find genes that share paralogs with SLC3A1           About GenesLikeMe



    (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 SLC3A1 (see all 1384)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441629641,2,,4
    C,FCystinuria (CSNU)4 --44407493(+) ATCAGT/CATGTC 2 /H /Y mis12Minor allele frequency- C:0.00NA EU 5873
    VAR_0382024
    Cystinuria (CSNU)4--see VAR_0382022 R H mis40--------
    VAR_0114214
    Cystinuria (CSNU)4--see VAR_0114212 R Q mis40--------
    VAR_0114234
    Cystinuria (CSNU)4--see VAR_0114232 T A mis40--------
    VAR_0114294
    Cystinuria (CSNU)4--see VAR_0114292 Y H mis40--------
    VAR_0382044
    Cystinuria (CSNU)4--see VAR_0382042 G V mis40--------
    VAR_0226014
    Cystinuria (CSNU)4--see VAR_0226012 R C mis40--------
    VAR_0114324
    Cystinuria (CSNU)4--see VAR_0114322 F S mis40--------
    VAR_0114204
    Cystinuria (CSNU)4--see VAR_0114202 P Q mis40--------
    VAR_0382004
    Cystinuria (CSNU)4--see VAR_0382002 Y C mis40--------

    HapMap Linkage Disequilibrium report for SLC3A1 (44502597 - 44548633 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SLC3A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720000CNV Deletion23290073
    dgv635e201CNV Deletion23290073
    esv2720002CNV Deletion23290073
    dgv4109n71CNV Loss21882294
    nsv521399CNV Loss19592680
    esv2751893CNV Loss17911159
    nsv833936CNV Loss17160897
    nsv457196CNV Gain19166990
    nsv873986CNV Gain21882294
    esv2538552OTHER Inversion19546169

    Human Gene Mutation Database (HGMD): SLC3A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC3A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC3A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104614   
    OMIM disorders: 220100  
    UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837
  • 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
  • Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth,
    nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia
    and rapid weight gain in late childhood. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 6 diseases for SLC3A1:    
    About MalaCards
    2p21 microdeletion syndrome    atypical hypotonia - cystinuria syndrome    cystinuria    hypotonia-cystinuria syndrome
    lysinuric protein intolerance    hypotonia

    2 diseases from the University of Copenhagen DISEASES database for SLC3A1:
    Cystinuria     Nephrolithiasis

    Find genes that share disorders with SLC3A1           About GenesLikeMe

    5 Novoseek inferred disease relationships for SLC3A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystinuria 99.1 201 10620184 (5), 9186880 (4), 7573036 (4), 16845473 (4) (see all 91)
    aminoaciduria 88 3 11396607 (1), 8663357 (1)
    nephrolithiasis 79.1 4 9648063 (2), 10810228 (1), 11141402 (1)
    lysinuric protein intolerance 69.3 3 15155792 (2), 10990376 (1)
    metabolic disorder 17.7 1 16566266 (1)

    Genetic Association Database (GAD): SLC3A1
    Human Genome Epidemiology (HuGE) Navigator: SLC3A1 (13 documents)

    Export disorders for SLC3A1 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 SLC3A1 gene, integrated from 10 sources (see all 167):
    (articles sorted by number of sources associating them with SLC3A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. (PubMed id 9186880)1, 2, 3, 9 Endsley J.K.... George A.L. Jr. (Kidney Int. 1997)
    2. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. (PubMed id 11748844)1, 2, 4, 9 Harnevik L....Soederkvist P. (Hum. Mutat. 2001)
    3. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. (PubMed id 8486766)1, 2, 3, 9 Lee W.-S.... Hediger M.A. (J. Clin. Invest. 1993)
    4. 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)
    5. 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)
    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. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. (PubMed id 7568194)1, 2, 9 Calonge M.J.... Palacin M. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    8. Mutations of the basic amino acid transporter gene associated with cystinuria. (PubMed id 7575432)1, 2, 9 Miyamoto K.... Takeda E. (Biochem. J. 1995)
    9. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney. (PubMed id 12167606)1, 2, 9 FernA!ndez E....ChillarA^n J. (Am. J. Physiol. Renal Physiol. 2002)
    10. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. (PubMed id 7573036)1, 2, 9 Gasparini P.... Zelante L. (Am. J. Hum. Genet. 1995)

    (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: 6519 HGNC: 11025 AceView: SLC3A1 Ensembl:ENSG00000138079 euGenes: HUgn6519
    ECgene: SLC3A1 Kegg: 6519 H-InvDB: SLC3A1

    (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 SLC3A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC3A1[genesymbol]
    Cysdbhttp://www.cysdb.mcgill.ca/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC3A1 gene:
    Search GeneIP for patents involving SLC3A1

    GeneCards and IP:
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