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SLC7A5 Gene

protein-coding   GIFtS: 64
GCID: GC16M087863

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

  See SLC7A5-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 7 (Amino Acid Transporter Light Chain, L System),
Member 51 2
     L-Type Amino Acid Transporter 12 3
MPE162 3 5     Y+ System Cationic Amino Acid Transporter2 3
Integral Membrane Protein E162 3     D16S469E2 5
Solute Carrier Family 7 Member 52 3     CD982
4F2LC2 3     E162
4F2 LC2 3     Large Neutral Amino Acids Transporter 12
4F2 Light Chain2 3     Large Neutral Amino Acids Transporter Small Subunit 12
LAT12 3     Sodium-Independent Neutral Amino Acid Transporter LAT12
CD98 Light Chain2 3     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System),
Member 52
hLAT12 3     CD98LC3

External Ids:    HGNC: 110631   Entrez Gene: 81402   Ensembl: ENSG000001032577   OMIM: 6001825   UniProtKB: Q016503   

Export aliases for SLC7A5 gene to outside databases

Previous GC identifers: GC16M079198 GC16M088894 GC16M087604 GC16M087645 GC16M086421


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC7A5 Gene:
SLC7A5 (solute carrier family 7 (amino acid transporter light chain, L system), member 5) is a protein-coding gene. Diseases associated with SLC7A5 include bladder carcinoma, and lysinuric protein intolerance. 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: LAT1_HUMAN, Q01650
Function: Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine,
tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid
uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and
that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as
placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of
methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in
metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols,
via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play an important
role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier
which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the
neural retina. Acts as the major transporter of tyrosine in fibroblasts

Gene Wiki entry for SLC7A5 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_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC7A5 gene promoter:
         NF-1   NF-1/L   Pax-5   FOXO3   FOXO3b   PPAR-gamma1   CP2   FOXO3a   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SLC7A5 promoter sequence
   Search Chromatin IP Primers for SLC7A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC7A5


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24.3

SLC7A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A5 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M087863:  view genomic region     (about GC identifiers)

Start:
87,863,629 bp from pter      End:
87,903,100 bp from pter
Size:
39,472 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAT1_HUMAN, Q01650 (See protein sequence)
Recommended Name: Large neutral amino acids transporter small subunit 1  
Size: 507 amino acids; 55010 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc
Miscellaneous: The uptake of leucine, tyrosine and tryptophan is inhibited by the different iodothyronines, in
particular T3. Leucine transport is also inhibited by small zwitterionic amino acids (i.e. glycine, alanine,
serine, threonine and cysteine) and by glutamine and asparginine. The uptake of T3 is almost completely blocked
by coincubation with leucine, tryptophan, tyrosine, and phenylalanine, or
2-amino-bicyclo-(2,2,1)-heptane-2-carboxylate (BCH). Methionine uptake was inhibited by the L-system substrates
L-leucine, BCH, L-cysteine and by the MeHg-L-cysteine complex and structurally related S-ethyl-L-cysteine.
MeHg-L-cysteine uptake is inhibited by L-methionine, L-leucine, BCH and S-ethyl-L-cysteine. L-leucine uptake was
inhibited by L-CNSO. Tyrosine uptake in fibroblasts was inhibited by D-methionine, and methyl-aminoisobutyric
acid (MeAIB)
Secondary accessions: Q8IV97 Q9UBN8 Q9UP15 Q9UQC0

Explore the universe of human proteins at neXtProt for SLC7A5: NX_Q01650

Explore proteomics data for SLC7A5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys30
  • Glycosylation2 at Asn49, Asn230, Asn340
  • Modification sites at PhosphoSitePlus

  • See SLC7A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003477.4  
    ENSEMBL proteins: 
     ENSP00000454323   ENSP00000261622  
    Reactome Protein details: Q01650

    SLC7A5 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Novus Biologicals SLC7A5 Antibodies
    Abcam antibodies for SLC7A5
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for SLC7A5

    SLC7A5 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SLC7A5 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: L-type amino acid transporter 1
    SLC7 family

    2 InterPro protein domains:
     IPR004760 L_AA_transporter
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry Q01650

    ProtoNet protein and cluster: Q01650

    UniProtKB/Swiss-Prot: LAT1_HUMAN, Q01650
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter
    (LAT) (TC 2.A.3.8) family


    Find genes that share domains with SLC7A5           About GenesLikeMe


    (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, 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: LAT1_HUMAN, Q01650
    Function: Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine,
    tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid
    uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and
    that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as
    placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of
    methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in
    metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols,
    via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play an important
    role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier
    which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the
    neural retina. Acts as the major transporter of tyrosine in fibroblasts
    Biophysicochemical properties: Kinetic parameters: KM=7.9 uM for T4 (in the presence of choline chloride); KM=0.8
    uM for T3 (in the presence of choline chloride); KM=12.5 uM for reverse triiodothyronine (rT3) (in the presence
    of choline chloride); KM=7.9 uM for 3,3'-diiodothyronine (in the presence of choline chloride); KM=46 uM for
    leucine (in the presence of choline chloride); KM=19 uM for tryptophan (in the presence of choline chloride);
    KM=32 uM for L-leucine; KM=10 mM for L-alanine; KM=2.2 mM for L-glutamine; KM=35 uM for L-histidine; KM=740 uM
    for L-phenylalanine; KM=98 uM for MeHg-L-cysteine; KM=99 uM for methionine; KM=55.2 uM for phenylalanine (in T24
    human bladder carcinoma cells); KM=60.4 uM for tyrosine (in T24 human bladder carcinoma cells); KM=16.4 uM for
    tyrosine (in human fibroblasts); KM=138 uM for Dopa (in T24 human bladder carcinoma cells); KM=96.5 uM for
    3-O-methyldopa (in T24 human bladder carcinoma cells); KM=153 uM for alpha-methyltyrosine (in T24 human bladder
    carcinoma cells); KM=216 uM for alpha-methyldopa (in T24 human bladder carcinoma cells); KM=191 uM for gabapentin
    (in T24 human bladder carcinoma cells); KM=7.3 uM for triiodothyronine (in T24 human bladder carcinoma cells);
    KM=162 uM for thyroxine (in T24 human bladder carcinoma cells); KM=75.3 uM for melphanan (in T24 human bladder
    carcinoma cells); KM=156 uM for BCH (in T24 human bladder carcinoma cells);
    Induction: Expression induced in quiescent peripheral blood lymphocytes after treatment with phorbol myristate
    acetate (PMA) and phytohemagglutinin (PHA). Expression and the uptake of leucine is stimulated in mononuclear,
    cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA and calcium ionophore

         Genatlas biochemistry entry for SLC7A5:
    solute carrier family 7,member 5,40kDa,human cell surface glycoprotein 4F2 light chain,heterodimerizing with the
    cell surface glycoprotein 4F2 heavy chain (CD98) to form a complex mediating L-type (sodium independent exchange)
    of large neutral amino acids transport,not expressed in the intestine

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015171amino acid transmembrane transporter activity ISS--
    GO:0015175neutral amino acid transmembrane transporter activity TAS9751058
    GO:0015179L-amino acid transmembrane transporter activity IEA--
    GO:0042605peptide antigen binding ISS--
         
    Find genes that share ontologies with SLC7A5           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLC7A5:
     Increased G1 DNA content  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc7a5):
     mortality/aging 

    Find genes that share phenotypes with SLC7A5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc7a5tm1Lex for SLC7A5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC7A5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC7A5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC7A5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC7A5

    miRNA
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    miRTarBase miRNAs that target SLC7A5:
    hsa-mir-16-5p (MIRT031833), hsa-mir-7-5p (MIRT004528), hsa-mir-671-5p (MIRT039269), hsa-mir-296-3p (MIRT038496), hsa-mir-626 (MIRT004144), hsa-mir-193b-3p (MIRT016508), hsa-mir-126-3p (MIRT006679)

    Block miRNA regulation of human, mouse, rat SLC7A5 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SLC7A5:
    hsa-miR-152 hsa-miR-126 hsa-miR-148b hsa-miR-194 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSLC7A5 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A5


    (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
    LAT1_HUMAN, Q01650: Cytoplasm, cytosol. Apical cell membrane; Multi-pass membrane protein. Note=Located to the
    plasma membrane by SLC3A2/4F2hc. Localized to the apical membrane of placental syncytiophoblastic cells.
    Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----

    Find genes that share ontologies with SLC7A5           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 SLC7A5 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
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism
    4Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall
    5Basigin interactions
    Basigin interactions


    Find genes that share SuperPaths with SLC7A5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SLC7A5
        Glucose / Energy Metabolism

    2 Reactome Pathways for SLC7A5
        Amino acid transport across the plasma membrane
    Basigin interactions


        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A5: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC7A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC7A5 (Q016503 ENSP000002616224) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC3A2P081953, ENSP000003671244I2D: score=2 STRING: ENSP00000367124
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CLN3Q132863I2D: score=1 
    SLC2A4P146723I2D: score=1 
    PTPRJENSP000004000104STRING: ENSP00000400010
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006520cellular amino acid metabolic process TAS9751058
    GO:0006810transport TAS9751058
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--

    Find genes that share ontologies with SLC7A5           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC7A5 (LAT1)

    2 HMDB Compounds for SLC7A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    8 DrugBank Compounds for SLC7A5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Levodopa3,4-dihydroxyphenylalanine (see all 4)59-92-7transporter--11011012 15200428
    D-Leucine-- 328-38-1transporter--11557028
    D-Phenylalanine-- 673-06-3transporter--11557028
    Dextrothyroxine-- 51-49-0transporter--11901210
    Levothyroxine(-)-Thyroxine (see all 13)51-48-9transporter--11901210
    LiothyronineL-Liothyronine (see all 5)6893-02-3transporter--11901210
    Melphalan-- 148-82-3transporter--8398701
    S-(Methylmercury)-L-Cysteine-- --transporter--12117417

    Selected Novoseek inferred chemical compound relationships for SLC7A5 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-aminobicyclo(2,2,1)heptane-2-carboxylic acid 93.8 3 12933350 (1), 18382329 (1)
    l-amino acid 72.6 17 11278397 (2), 19244126 (2), 10673541 (1), 12009310 (1) (see all 7)
    leucine 68.8 21 14977877 (2), 11557028 (2), 19890975 (2), 15980244 (2) (see all 11)
    phenylalanine 57 11 15589117 (4), 16972176 (1), 11557028 (1), 12614332 (1) (see all 6)
    melphalan 53 8 17558306 (3), 20466543 (2), 11557028 (1), 19075510 (1)
    glutamine 35.8 9 11557028 (2), 20061171 (2), 15980244 (1)
    l-tryptophan 31.4 2 11230513 (1)
    alanine 30.2 9 18262359 (2), 20061171 (2), 11557028 (1), 15980244 (1)
    vegf 25.3 19 19171406 (2), 19347882 (2), 19018776 (2), 19141127 (2) (see all 6)
    cysteine 14.2 8 18793329 (2), 16125134 (2), 18294274 (1)



    Find genes that share compounds with SLC7A5           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 SLC7A5 gene: 
    NM_003486.5  

    Unigene Cluster for SLC7A5:

    Solute carrier family 7 (amino acid transporter light chain, L system), member 5
    Hs.513797  [show with all ESTs]
    Unigene Representative Sequence: AF104032
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565644 ENST00000261622(uc002fkm.3) ENST00000563489
    miRNA
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    hsa-miR-152 hsa-miR-126 hsa-miR-148b hsa-miR-194 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSLC7A5 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: SLC7A5 (NM_003486)
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC7A5
      QuantiFast Probe-based Assays in human, mouse, rat SLC7A5

    Additional mRNA sequence: 

    AB017908.1 AB018009.1 AB018542.1 AF077866.1 AF104032.1 BC014177.2 BC039692.2 BC042600.1 
    BC114608.1 M80244.1 

    18 DOTS entries:

    DT.100792298  DT.451978  DT.100792297  DT.95095029  DT.100792301  DT.95095027  DT.97775348  DT.97809808 
    DT.91953771  DT.92057720  DT.100045046  DT.100792299  DT.120661759  DT.120661809  DT.92028719  DT.120661834 
    DT.40263744  DT.95095026 

    Selected AceView cDNA sequences (see all 684):

    BE269539 BG254977 CA487690 BU185312 AI381015 BU155905 BQ279084 BQ894656 
    BQ436715 BQ682698 F02104 AI268756 BQ221168 BU182444 BU184687 BU195895 
    BE384959 BG491005 BQ682351 CR594130 BU169263 BU163203 BI333982 BI871383 

    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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    SLC7A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGCTCCCT
    SLC7A5 Expression
    About this image


    SLC7A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
             Chondrocyte-like cells
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    SLC7A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC7A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513797

    UniProtKB/Swiss-Prot: LAT1_HUMAN, Q01650
    Tissue specificity: Expressed abundantly in adult lung, liver, brain, skeletal muscle, placenta, bone marrow,
    testis, resting lymphocytes and monocytes, and in fetal liver. Weaker expression in thymus, cornea, retina,
    peripheral leukocytes, spleen, kidney, colon and lymph node. During gestation, expression in the placenta was
    significantly stronger at full-term than at the mid-trimester stage. Also expressed in all human tumor cell lines
    tested and in the astrocytic process of primary astrocytic gliomas. Expressed in retinal endothelial cells and in
    the intestinal epithelial cell line Caco-2

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A5: 
              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.

    Orthologs for SLC7A5 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc7a51 , 5 solute carrier family 7 (cationic amino acid transporter, more1, 5 87.22(n)1
    93.33(a)1
      8 (70.80 cM)5
    205391  NM_011404.31  NP_035534.21 
     1218811505 
    chicken
    (Gallus gallus)
    Aves SLC7A51 solute carrier family 7 (amino acid transporter light more 81.14(n)
    86.01(a)
      415832  NM_001030579.1  NP_001025750.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    47(a)
    many ↔ many
    4(21525609-21539371)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689752 hypothetical protein MGC68975 77.94(n)    Y12716.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7972501 large neutral amino acids transporter small subunit more 74.15(n)
    83.05(a)
      797250  NM_001128358.1  NP_001121830.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mnd3
    JhI-211
    amino acid transporter3
    JhI-211
    52(a)
    (best of 3)3
    59.21(n)1
    52.85(a)1
      346241  NM_001259067.11  NP_001245996.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C8.13 integral membrane protein E16 like 48(a)
    (best of 8)
      IV(9599614-9601874)   --


    ENSEMBL Gene Tree for SLC7A5 (if available)
    TreeFam Gene Tree for SLC7A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC7A5 gene
    SLC7A72  SLC7A62  SLC7A112  SLC7A82  SLC7A92  SLC7A132  SLC7A102  
    12 SIMAP similar genes for SLC7A5 using alignment to 2 protein entries:     LAT1_HUMAN (see all proteins):
    lat1    SLC7A5P1    SLC7A5P2    SLC7A7    SLC7A8    SLC7A6
    DKFZp686K14185    SLC7A10    hxCT    SLC7A11    SLC7A9    SLC7A13

    Find genes that share paralogs with SLC7A5           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for SLC7A5
    PGOHUM00000259021 PGOHUM00000259042


    (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 SLC7A5 (see all 1460)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782751531,2
    C,F--87863159(+) AACTGA/GGAGGC 1 -- ds50012Minor allele frequency- G:0.15CSA WA 120
    rs761255611,2
    C,F--87863191(+) AGAATC/GGGTGC 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs50143621,2
    C,F--87863206(+) TCCTCT/CCCTGC 1 -- ds50017Minor allele frequency- C:0.48NA WA EA 366
    rs44190701,2
    C,F,A,H--87863267(+) AGCCCC/TGCATC 1 -- ds500111Minor allele frequency- T:0.08NS EA NA 1342
    rs43696731,2
    H--87863323(+) GCTCCC/TTGGGA 1 -- ds50014Minor allele frequency- T:0.00NS EA 412
    rs50143631,2
    C,F,H--87863372(+) AACATC/GCCTGC 1 -- ds50019Minor allele frequency- G:0.09NS EA NA WA CSA 535
    rs80631161,2
    C,F,A--87863395(+) CCCCCC/GACTCC 1 -- ds50013Minor allele frequency- G:0.12WA 122
    rs1438864921,2
    --87863414(+) ATCCGA/GTATCT 1 -- ds50010--------
    rs1464062221,2
    --87863425(+) TGGCTC/TGGCAC 1 -- ds50010--------
    rs80638411,2
    C,F,A--87863429(+) TCGGCA/CCCCCC 1 -- ds50015Minor allele frequency- C:0.20WA NA EA 362

    HapMap Linkage Disequilibrium report for SLC7A5 (87863629 - 87903100 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC7A5 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668850CNV Deletion23128226
    esv1188587CNV Insertion17803354
    dgv2960n71CNV Loss21882294
    nsv907194CNV Loss21882294
    nsv907195CNV Loss21882294
    nsv907182CNV Loss21882294
    dgv2961n71CNV Loss21882294
    nsv907208CNV Loss21882294
    dgv2958n71CNV Loss21882294
    nsv907209CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC7A5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC7A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A5

    (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: 600182    OMIM disorders: --

    2 diseases for SLC7A5:    
    About MalaCards
    bladder carcinoma    lysinuric protein intolerance


    Find genes that share disorders with SLC7A5           About GenesLikeMe

    9 Novoseek inferred disease relationships for SLC7A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysinuric protein intolerance 67 2 11766986 (1)
    phenylketonurias 42.6 4 16972176 (2), 15589117 (1), 16125134 (1)
    glioma 41.7 26 18382329 (6), 18095110 (5), 16496379 (3), 11557028 (1) (see all 5)
    carcinoma squamous cell 41.3 17 15906366 (6), 15274339 (2), 16886618 (2), 19635099 (1) (see all 7)
    oral cancer 39.9 4 15274339 (1), 15036654 (1), 15863273 (1)
    bladder carcinoma 35.6 3 11557028 (1), 12225859 (1), 17489360 (1)
    tumors 33.6 71 18440724 (5), 18382329 (5), 11557028 (3), 17622555 (3) (see all 25)
    cancer 31.7 32 19018776 (3), 18520037 (2), 16886618 (2), 15916903 (2) (see all 14)
    choriocarcinoma 25.8 1 11742812 (1)

    Genetic Association Database (GAD): SLC7A5
    Human Genome Epidemiology (HuGE) Navigator: SLC7A5 (4 documents)

    Export disorders for SLC7A5 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 SLC7A5 gene, integrated from 10 sources (see all 177):
    (articles sorted by number of sources associating them with SLC7A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines. (PubMed id 11557028)1, 2, 7, 9 Yanagida O.... Endou H. (Biochim. Biophys. Acta 2001)
    2. Transport of a neurotoxicant by molecular mimicry: the methylmercury- L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2. (PubMed id 12117417)1, 2, 7 Simmons-Willis T.A.... Ballatori N. (Biochem. J. 2002)
    3. Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. (PubMed id 9751058)1, 2, 3 Mastroberardino L.... Verrey F. (Nature 1998)
    4. L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. (PubMed id 16496379)1, 2, 9 Nawashiro H.... Endou H. (Int. J. Cancer 2006)
    5. Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells. (PubMed id 12225859)1, 2, 9 Kim D.K.... Endou H. (Biochim. Biophys. Acta 2002)
    6. Identification of stereoselective transporters for S-nitroso-L- cysteine: role of LAT1 and LAT2 in biological activity of S- nitrosothiols. (PubMed id 15769744)1, 2, 9 Li S. and Whorton A.R. (J. Biol. Chem. 2005)
    7. Identification and functional characterization of a Na+-independent large neutral amino acid transporter, LAT1, in human and rabbit cornea. (PubMed id 12824232)1, 2, 9 Jain-Vakkalagadda B.... Mitra A.K. (Invest. Ophthalmol. Vis. Sci. 2003)
    8. Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains. (PubMed id 11311135)1, 2, 9 Broeer A.... Broeer S. (Biochem. J. 2001)
    9. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PubMed id 17558306)1, 4, 9 KA1hne A....BrockmAPller J. (Pharmacogenet. Genomics 2007)
    10. Functional characterization of tyrosine transport in fibroblast cells from healthy controls. (PubMed id 18262359)1, 2, 9 Vumma R.... Venizelos N. (Neurosci. Lett. 2008)

    (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: 8140 HGNC: 11063 AceView: SLC7A5 Ensembl:ENSG00000103257 euGenes: HUgn8140
    ECgene: SLC7A5 H-InvDB: SLC7A5

    (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 SLC7A5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC7A5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC7A5 gene:
    Search GeneIP for patents involving SLC7A5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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