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

SLC3A1 Gene

protein-coding   GIFtS: 65
GCID: GC02P044414

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

(Previous names: solute carrier family 3 (cystine, dibasic and neutral amino...)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

Aliases
Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member
11 2
     SLC3A1 Variant B2
NBAT2 3 5     SLC3A1 Variant C2
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 D2
RBAT2 3     SLC3A1 Variant E2
B(0,+)-Type Amino Acid Transport Protein2 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     Solute Carrier Family 3 Member 12
Amino Acid Transporter 12     D2h3
Neutral And Basic Amino Acid Transport Protein RBAT2     

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 GC02P044356 GC02P044239


(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 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 cystinuria, and hypotonia - cystinuria syndrome, 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 cation binding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC3A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC02P044414:  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 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: 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
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07837

  • SLC3A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC3A1 Protein Expression
    REFSEQ proteins: NP_000332.2  
    ENSEMBL proteins: 
     ENSP00000260649   ENSP00000387308   ENSP00000387337   ENSP00000386954   ENSP00000386620  
     ENSP00000386709   ENSP00000391642   ENSP00000386852   ENSP00000386677  
    Reactome Protein details: Q07837
    Human Recombinant Protein Products for SLC3A1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    SLC3A1 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: RBAT 
    SLC3 family

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

    Graphical View of Domain Structure for InterPro Entry Q07837

    ProtoNet protein and cluster: Q07837

    1 Blocks protein domain: IPB006589 Alpha amylase


    SLC3A1 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: 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0015171amino acid transmembrane transporter activity TAS10799513
    GO:0015174basic amino acid transmembrane transporter activity TAS8054986
    GO:0015184L-cystine transmembrane transporter activity TAS8054986
    GO:0043169cation binding IEA--
         
    SLC3A1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism  immune system  renal/urinary system 
     skeleton 

    SLC3A1 for phenotypes           About GeneDecksing

    Animal Models:
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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 SLC3A1 About                                                                                                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
    3Protein digestion and absorption
    Protein digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC3A1
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Amino acid and oligopeptide SLC transporters
    Amino acid transport across the plasma membrane
    Transport of inorganic cations/anions and amino acids/oligopeptides


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


    SLC3A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC3A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/23 Interacting proteins for SLC3A1 (Q078373 ENSP000002606494) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/8 biological process terms (GO ID links to tree view) (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--

    SLC3A1 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

    SLC3A1 for compounds           About GeneDecksing

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

    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

    10/16 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)

    Search CenterWatch for drugs/clinical trials and news about SLC3A1 / SLC31

    (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 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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/70 AceView cDNA sequences (see all 70):

    AI240946 BX100432 CB157211 L11696 AL709339 AI748784 CB163282 AI928029 
    AA954167 AI302806 AI925902 BP383341 BE463691 BP383224 AA740324 AK092000 
    BP382888 BQ010929 BG217972 AL037535 BP383441 BG181538 BV183410 CF528470 

    GeneLoc Exon Structure

    5/8 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™, 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

    SLC3A1 expression in normal human tissues (normalized intensities)      SLC3A1 embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Kidney (Urinary System)    fully expand to see all 13 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             kidney ; cells in tubules   
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 6 entries
             visceral organ   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             pancreas ; exocrine glandular cells   
             Pancreatic Islet   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/midbrain   

    See SLC3A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC3A1

    SOURCE GeneReport for Unigene cluster: Hs.112916

    UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837
    Tissue specificity: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver

        SABiosciences Expression via Pathway-Focused PCR Array including SLC3A1: 
              Drug Transporters in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC3A1 gene from 7/16 species (see all 16)    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 66.42(n)
    61.26(a)
      428569  XM_426125.3  XP_426125.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC3A16
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343231.1(2165059-2188335)
    zebrafish
    (Danio rerio)
    Actinopterygii slc3a11 solute carrier family 3 (cystine, dibasic and neutral more 57.69(n)
    55.32(a)
      557757  XM_680877.3  XP_685969.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303593
    Mal-B21
    Maltase B21 41(a)
    (best of 10)3
    48.76(n)1
    39.62(a)1
      44D13
    345981  NM_164975.31  NP_723693.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F26D10.93
    atgp-21
    Sugar (and other) transporters3
    Protein ATGP-21
    25(a)3
    44.47(n)1
    32.63(a)1
      IV(17269498-17272214)3
    1751251  NM_064642.51  NP_497043.21 
    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)
    About This Section
    Paralogs for SLC3A1 gene
    SLC3A22  
    1 SIMAP similar gene for SLC3A1 using alignment to 12 protein entries:     SLC31_HUMAN (see all proteins):
    NF2

    SLC3A1 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

    10/1384 SNPs in SLC3A1 are shown (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
    ----------
    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--------
    VAR_0382084
    Cystinuria (CSNU)4--see VAR_0382082 F S 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
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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.)
    About This Section
    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

  • 17 diseases for SLC3A1:    About MalaCards
    cystinuria    hypotonia - cystinuria syndrome    atypical hypotonia - cystinuria syndrome    2p21 microdeletion syndrome
    aminoaciduria    hartnup disease    lysinuric protein intolerance    hypotonia
    nephrolithiasis    growth hormone deficiency    pyelonephritis    hypertrophic cardiomyopathy
    metabolic disorders    pneumonia    hypertension    tuberculosis
    endotheliitis

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

    SLC3A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC3A1 gene, integrated from 9 sources (see all 165):
    (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. (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. (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. (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. (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. (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. 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. (1995)
    8. Mutations of the basic amino acid transporter gene associated with cystinuria. (PubMed id 7575432)1, 2, 9 Miyamoto K.... Takeda E. (1995)
    9. 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. (1995)
    10. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. (PubMed id 12820697)1, 4, 9 Harnevik L.... Soderkvist P. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 6519 HGNC: 11025 AceView: SLC3A1 Ensembl:ENSG00000138079 euGenes: HUgn6519
    ECgene: SLC3A1 Kegg: 6519 H-InvDB: SLC3A1

    (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 SLC3A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC3A1
    Cysdbhttp://www.cysdb.mcgill.ca/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC3A1 gene:
    Search GeneIP for patents involving SLC3A1

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



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