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GIFtS

SLC7A1 Gene

protein-coding   GIFtS: 59
GCID: GC13M030083

solute carrier family 7 (cationic amino acid transporter,...


(Previous symbols: ERR, ATRC1)
 Explore 19 diseases affiliated with
SLC7A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC7A1    

Aliases
for SLC7A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member
11 2
     Ecotropic Retrovirus Receptor Homolog2 3
ATRC11 2 3 5     Solute Carrier Family 7 Member 12 3
CAT-11 2 3     System Y+ Basic Amino Acid Transporter2 3
ERR1 2 3     CAT12 3
REC1L1 2 3     Amino Acid Transporter, Cationic 12
HCAT11 2     Ecotropic Retroviral Receptor2
Ecotropic Retroviral Leukemia Receptor Homolog2 3     High Affinity Cationic Amino Acid Transporter 12

External Ids:    HGNC: 110571   Entrez Gene: 65412   Ensembl: ENSG000001395147   OMIM: 1046155   UniProtKB: P308253   

Export aliases for SLC7A1 gene to outside databases

Previous GC identifers: GC13M028068 GC13M024068 GC13M029016 GC13M027886 GC13M027884 GC13M028984 GC13M010903


Summaries
for SLC7A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: CTR1_HUMAN, P30825
Function: High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine
and ornithine) in non-hepatic tissues. May also function as an ecotropic retroviral leukemia receptor

Gene Wiki entry for SLC7A1


Genomic Views
for SLC7A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A1 gene promoter:
         CREB   PPAR-gamma1   deltaCREB   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC7A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A1


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

Entrez Gene cytogenetic band: 13q12.3   Ensembl cytogenetic band:  13q12.3   HGNC cytogenetic band: 13q12.3

SLC7A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M030083:  view genomic region     (about GC identifiers)

Start:
 30,083,547 bp from pter      End:
 30,169,825 bp from pter
Size:
 86,279 bases      Orientation:
 minus strand

Proteins
for SLC7A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CTR1_HUMAN, P30825 (See protein sequence)
Recommended Name: High affinity cationic amino acid transporter 1  
Size: 629 amino acids; 67638 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q5JR50

Explore the universe of human proteins at neXtProt for SLC7A1: NX_P30825

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P30825

    • SLC7A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003036.1  
    ENSEMBL proteins: 
     ENSP00000370128   ENSP00000390092  
    Reactome Protein details: P30825
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC7A1 Proteins
    Novus Biologicals SLC7A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC7A1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1718082
    GO:0016021integral to membrane ----


    SLC7A1 for ontologies           About GeneDecksing



    SLC7A1 Antibody Products: 
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    Uscn Antibodies for SLC7A1
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    Uscn ELISAs and CLIAs for SLC7A1

    Protein Domains /
    Families
    for SLC7A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC7A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR004755 Cat_AA_permease
     IPR015606 Cat-AATrans
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry P30825

    ProtoNet protein and cluster: P30825

    UniProtKB/Swiss-Prot: CTR1_HUMAN, P30825
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT)
    (TC 2.A.3.3) family


    Function
    for SLC7A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CTR1_HUMAN, P30825
    Function: High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine
    and ornithine) in non-hepatic tissues. May also function as an ecotropic retroviral leukemia receptor

         Genatlas biochemistry entry for SLC7A1:
    solute carrier family 7,member A1,high affinity sodium independent,cationic amino-acid transporter,y+ type

    miRNA
    Products:            		miRTarBase miRNAs that target SLC7A1:
    hsa-mir-16 (MIRT001412), hsa-mir-125b (MIRT005000), hsa-mir-122 (MIRT003105)

    OriGene 3'-UTR Clone: SLC7A1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC7A1
    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A1 (see all 78):
    hsa-miR-3194-5p hsa-miR-300 hsa-miR-199a-3p hsa-miR-15a hsa-miR-371-5p hsa-miR-3161 hsa-miR-298 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC7A1 (see all 6)
    OriGene shRNA RFP: SLC7A1
    OriGene siRNA: SLC7A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A1

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC7A1 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SLC7A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0015181arginine transmembrane transporter activity IEA--


    SLC7A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC7A1:
     Lamellipodia and high actin ra 

    Animal Models:
         Mouse knock-out Slc7a1tm1Rbmn for SLC7A1
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc7a1):
     cellular  growth/size  hematopoietic system  mortality/aging 

    SLC7A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC7A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    		Amino acid and oligopeptide SLC transporters1.00
    		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 transport1.00
    		Transmembrane transport of small molecules0.50
    3Nanog in Mammalian ESC Pluripotency
    		eNOS Signaling0.48

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC7A1
        eNOS Signaling

    5        Reactome Pathways for SLC7A1
        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



    SLC7A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A1

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

    4 Interacting proteins for SLC7A1 (P308253 ENSP000003701284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    CSF1P096033I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS1348489
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0015809arginine transport ----
    GO:0032006regulation of TOR signaling cascade ----


    SLC7A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC7A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC7A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC7A1

    1 HMDB Compound for SLC7A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--

    3 DrugBank Compounds for SLC7A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Arginine(S)-2-Amino-5-guanidinovaleric acid (see all 4)74-79-3target--17065601 17329401 17325243 17427197 17363779
    L-Lysine(S)-2,6-diaminohexanoic acid (see all 6)56-87-1target--9614060 14523001 17139284 17016423 17042743
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--17065601 16703566 15491978

    10/13 Novoseek chemical compound relationships for SLC7A1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 77.5 83 19501907 (4), 16210335 (3), 15064952 (3), 18574322 (3) (see all 36)
    adma 69.2 3 19605523 (2), 15569830 (1)
    citrulline 66 1 18069040 (1)
    ornithine 60.4 19 17197568 (4), 17494634 (4), 16210335 (1), 18069040 (1) (see all 6)
    lysine 58.7 14 14523001 (2), 15086470 (1), 8523543 (1), 12196519 (1) (see all 10)
    nitric oxide 55.9 8 12142345 (2), 11742806 (1), 12787129 (1), 15976236 (1) (see all 5)
    n-ethylmaleimide 51.8 1 16210335 (1)
    dfmo 40.9 3 17494634 (2)
    peroxynitrite 39.6 3 12058042 (2)
    leucine 14.5 1 19562367 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC7A1 / CTR1 

    Transcripts
    for SLC7A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC7A1 gene: 
    NM_003045.4  

    Unigene Cluster for SLC7A1:

    Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
    Hs.14846  [show with all ESTs]
    Unigene Representative Sequence: NM_003045
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380752(uc001uso.3) ENST00000473577 ENST00000450494

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC7A1
    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A1 (see all 78):
    hsa-miR-3194-5p hsa-miR-300 hsa-miR-199a-3p hsa-miR-15a hsa-miR-371-5p hsa-miR-3161 hsa-miR-298 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC7A1 (see all 6)
    OriGene shRNA RFP: SLC7A1
    OriGene siRNA: SLC7A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC7A1
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    Additional cDNA sequence: 

    AF078107.1 AK022999.1 AK124591.1 AK312818.1 AL050021.1 BC012895.1 BC033200.1 BC063303.1 
    BC069358.1 BC115407.1 X57303.1 X59155.1 

    12 DOTS entries:

    DT.101972895  DT.302600  DT.97768825  DT.97788455  DT.91755294  DT.100790726  DT.91849104  DT.95247666 
    DT.95365695  DT.100790729  DT.91694928  DT.91902353 

    24/279 AceView cDNA sequences (see all 279):

    BM554730 AI680860 BQ439206 CB127957 BE669897 AA482278 AI280901 BM806705 
    AI332885 AI432471 BF732325 AI369213 AL707645 CN481450 H20618 AA114934 
    AI524527 AI422785 AA527433 BM458630 CN483622 X59155 BE857495 BE891654 

    GeneLoc Exon Structure


    Expression
    for SLC7A1 gene

    (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

    SLC7A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC7A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    BrainMeningesBrain
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC7A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A1

    SOURCE GeneReport for Unigene cluster: Hs.14846

    UniProtKB/Swiss-Prot: CTR1_HUMAN, P30825
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including SLC7A1: 
              Hypertension in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SLC7A1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for SLC7A1 gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC7A11 solute carrier family 7 (cationic amino acid transporter, more 72.2(n)
    77.26(a)    		   418922  NM_001145490.1  NP_001138962.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC7A16
    		 --
    		 79(a)
    		 1 ↔ 1
    		 3(185016618-185041211)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.265832 Danio rerio cDNA clone MGC63694 IMAGE5916426, complete more 76.39(n)    BC055209.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG111283 cationic amino acid transporter 45(a)
    (best of 4)    		   80B2   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CAT31 cationic amino acid transporter 3 47.1(n)
    40.04(a)    		   833664  NM_123052.4  NP_198510.2 
    rice
    (Oryza sativa)    		 Liliopsida AK066436.12   -- 68.48(n)    AK066436.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria plaP6
    puuP6
    (see all 3)    		 putrescine importer
    (see all 3)    		 20(a)
    19(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 Chromosome(2083728-2085086)
    Chromosome(1355826-1357211)


    ENSEMBL Gene Tree for SLC7A1 (if available)
    TreeFam Gene Tree for SLC7A1 (if available) 

    Paralogs
    for SLC7A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A1 gene
    SLC7A62  SLC7A42  SLC7A92  SLC7A142  SLC7A32  SLC7A102  SLC7A132  SLC7A72  
    SLC7A112  SLC7A82  SLC7A22  SLC7A52  
    7 SIMAP similar genes for SLC7A1 using alignment to 2 protein entries:     CTR1_HUMAN (see all proteins):
    SLC7A2    SLC7A3    SLC7A14    SLC7A4    SLC7A6    SLC7A7
    SLC7A8

    SLC7A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC7A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1624 NCBI SNPs in SLC7A1 are shown (see all 1624)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs342867911,2
    		C,--10920858(+) AGTAC-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs355972551,2
    		C--10921629(+) AAAAA-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1996758421,2
    		C--30083107(+) TACACC/TCCCCG 1 -- int10--------
    rs1869080361,2
    		--30083130(+) CCCTGC/TATGCA 1 -- int10--------
    rs10057191,2
    		C,F,A,--30083131(+) CCTGCG/ATGCAC 1 -- int111Minor allele frequency- A:0.48NA WA CSA EA 376
    rs360665831,2
    		C,--30083145(+) GCTCC-/CTCT  
                AACAG     		1 -- int10--------
    rs40022181,2
    		C--30083148(+) GCTCC-/CTCT  
                AACAG     		1 -- int11Minor allele frequency- CTCT:0.00NA 2
    rs10057201,2
    		C,F,A,H,--30083187(+) TGGGGC/TGGCAA 1 -- int123Minor allele frequency- T:0.31NS EA NA WA CSA 2518
    rs586784691,2
    		C,F,--30083207(+) GCGTTT/GTGTTG 1 -- int13Minor allele frequency- G:0.05WA CSA 122
    rs1178035131,2
    		F,--30083239(+) AAATGC/ACTGAC 1 -- int11Minor allele frequency- A:0.05EA 120

    HapMap Linkage Disequilibrium report for SLC7A1 (30083547 - 30169825 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 21 variations for SLC7A1
         15/19 CNVs (see all 19): 76302 76297 86764 76308 76303 76301 86762 76307 76299 86758 86761 76304 76305 76298 86763
         2 Indels: 25230 76296
    Human Gene Mutation Database (HGMD): SLC7A1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A1

    Disorders / Diseases
    for SLC7A1 gene

    (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.)
    About This Section
    SLC7A1 for disorders           About GeneDecksing

    OMIM gene information: 104615    OMIM disorders: --

    19 diseases for SLC7A1:    About MalaCards
    tinea capitis    root resorption    nonspecific interstitial pneumonia    leukemia
    gestational diabetes    parkinson's disease    homocysteine    pneumonia
    pertussis    psoriasis    breast cancer    asthma
    hypertension    hypoxia    retinitis    tuberculosis
    hepatitis    neuronitis    mycobacterium tuberculosis

    3 Novoseek disease relationships for SLC7A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 22.1 6 8382989 (1), 8523543 (1), 10482615 (1), 15527836 (1)
    glioblastoma 12.3 1 15491978 (1)
    tumors 0 1 1318407 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC7A1 (1 document)

    Export disorders for SLC7A1 gene to outside databases

    Publications
    for SLC7A1 gene

    (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 SLC7A1 gene, integrated from 9 sources (see all 125):
    (articles sorted by number of sources associating them with SLC7A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human cationic amino acid transporter (ATRC1): physical and genetic mapping to 13q12-q14. (PubMed id 1348489)1, 2, 3, 9 Albritton L.M.... Cunningham J.M. (1992)
    2. Protein kinase C activation promotes the internalization of the human cationic amino acid transporter hCAT-1. A new regulatory mechanism for hCAT-1 activity. (PubMed id 15491978)1, 7, 9 Rotmann A....Closs E.I. (2004)
    3. Identification of a novel polymorphism in the 3'UTR of the L-arginine transporter gene SLC7A1: contribution to hypertension and endothelial dysfunction. (PubMed id 17325243)1, 7 Yang Z....Kaye D.M. (2007)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Identification of three cationic amino acid transporters in placental trophoblast: cloning, expression, and characterization of hCAT-1. (PubMed id 10485994)1, 2 Kamath S.G.... Smith C.H. (1999)
    7. Molecular cloning and characterization of a novel human gene homologous to the murine ecotropic retroviral receptor. (PubMed id 1718082)1, 2 Yoshimoto T.... Meruelo D. (1991)
    8. Changes of differentiation and proliferation in k562 cells with various levels of knockdown of cationic amino acid transporter 1. (PubMed id 18574322)1, 9 Maeda T....Tamai I. (2008)
    9. Transcriptional control of the arginine/lysine transporter, cat-1, by physiological stress. (PubMed id 14523001)7, 9 Fernandez J....Hatzolgou M. (2003)
    10. Polyamines upregulate the mRNA expression of cationic amino acid transporter-1 in human retinal pigment epithelial cells. (PubMed id 17494634)1, 9 Kaneko S....Ito S. (2007)

    External Searches for SLC7A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    Genome Databases showing SLC7A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6541 HGNC: 11057 AceView: SLC7A1 Ensembl:ENSG00000139514 euGenes: HUgn6541
    ECgene: SLC7A1 H-InvDB: SLC7A1

    Other Databases showing SLC7A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC7A1 gene

    (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 SLC7A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC7A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC7A1 gene:
    Search GeneIP for patents involving SLC7A1

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