Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SLC7A7 Gene

protein-coding   GIFtS: 66
GCID: GC14M023242

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


(Previous symbol: LPI)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L
System), Member 71 2
     y+LAT-12 3
LPI1 2 5     LAT32
Monocyte Amino Acid Permease 22 3     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System),
Member 72
MOP-22 3     Y+L Amino Acid Transporter 12
Y+LAT12 3     Solute Carrier Family 7 Member 73
Y(+)L-Type Amino Acid Transporter 12 3     

External Ids:    HGNC: 110651   Entrez Gene: 90562   Ensembl: ENSG000001554657   OMIM: 6035935   UniProtKB: Q9UM013   
ORGUL members:         
NONCODE14:n411673      

Export aliases for SLC7A7 gene to outside databases

Previous GC identifers: GC14M020614 GC14M017029 GC14M021232 GC14M022312 GC14M003359


(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 SLC7A7 Gene:
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This
sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy
subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers
cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause
of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Jul 2011)

GeneCards Summary for SLC7A7 Gene: 
SLC7A7 (solute carrier family 7 (amino acid transporter light chain, y+L system), member 7) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SLC7A7 include lysinuric protein intolerance, and cystinuria, 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 amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A6.

UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01
Function: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some
neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and
glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via
transport of L-arginine. Involved in the transport of L-arginine in monocytes

Gene Wiki entry for SLC7A7 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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A7 gene promoter:
         AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   E47   AP-2alpha isoform 4   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC7A7 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A7


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

SLC7A7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A7 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023242:  view genomic region     (about GC identifiers)

Start:
23,242,431 bp from pter      End:
23,299,029 bp from pter
Size:
56,599 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SLC7A7

(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: YLAT1_HUMAN, Q9UM01 (See protein sequence)
Recommended Name: Y+L amino acid transporter 1  
Size: 511 amino acids; 55991 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA95120.1; Type=Erroneous gene model prediction; Sequence=CAD62619.1; Type=Erroneous
initiation;
Secondary accessions: B2RAU0 D3DS26 O95984 Q53XC1 Q86U07 Q9P2V5

Explore the universe of human proteins at neXtProt for SLC7A7: NX_Q9UM01

Explore proteomics data for SLC7A7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UM01

  • SLC7A7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC7A7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001119577.1  NP_001119578.1  

    ENSEMBL proteins: 
     ENSP00000285850   ENSP00000451881   ENSP00000380666   ENSP00000450715   ENSP00000380663  
     ENSP00000380662   ENSP00000452083   ENSP00000451026   ENSP00000450671   ENSP00000421554  
     ENSP00000451983   ENSP00000450495   ENSP00000452551   ENSP00000450729   ENSP00000451063  
     ENSP00000452256  
    Reactome Protein details: Q9UM01
    Human Recombinant Protein Products for SLC7A7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SLC7A7
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SLC7A7
    GenScript Custom Purified and Recombinant Proteins Services for SLC7A7
    Novus Biologicals SLC7A7 Proteins
    Novus Biologicals SLC7A7 Lysates
    Browse Sino Biological Recombinant Proteins
    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:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9829974
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IEA--

    SLC7A7 for ontologies           About GeneDecksing



    SLC7A7 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLC7A7
    GenScript Custom Superior Antibodies Services for SLC7A7
    Novus Biologicals SLC7A7 Antibodies
    Abcam antibodies for SLC7A7
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for SLC7A7
    LSBio Antibodies in human, mouse, rat for SLC7A7 

    Assay Products for SLC7A7: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC7A7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC7A7
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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: y+L amino acid transporter 1 
    SLC7 family

    1 InterPro protein domain:
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry Q9UM01

    ProtoNet protein and cluster: Q9UM01

    UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter
    (LAT) (TC 2.A.3.8) family


    SLC7A7 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: YLAT1_HUMAN, Q9UM01
    Function: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some
    neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and
    glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via
    transport of L-arginine. Involved in the transport of L-arginine in monocytes
    Enzyme regulation: Arginine transport is inhibited by protein kinase C (PKC) and treatment with
    phorbol-12-myristate-13-acetate (PMA)
    Biophysicochemical properties: Kinetic parameters: KM=31.7 uM for L-leucine (in the presence of 0.1 M NaCl);
    KM=16.2 uM for L-leucine (in the presence of 0.1 M LiCl);
    Induction: Expression is stimulated and enhanced by IFNG/IFN-gamma

         Genatlas biochemistry entry for SLC7A7:
    solute carrier family 7,member 7,expressed in kidney,peripheral leukocytes,lung,placenta,spleen,small
    intestine,heterodimerizing with the heavy chain 4F2hc,CD98 to form a complex of approximatly 135kDa,mediating
    y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids together with sodium glycoprotein
    associated aminoacid transporter family

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015171amino acid transmembrane transporter activity IEA--
         
    SLC7A7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC7A7:
     Decreased viability of wild-ty 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc7a7):
     behavior/neurological  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  renal/urinary system 
     reproductive system  skeleton 

    SLC7A7 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC7A7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC7A7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC7A7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC7A7 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC7A7
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A7:
    hsa-miR-22 hsa-miR-548p hsa-miR-593 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidSLC7A7 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLC7A7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC7A7
    Sirion Biotech Customized adenovirus for overexpression of SLC7A7

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SLC7A7 (see all 19)
    OriGene ORF clones in mouse, rat for SLC7A7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC7A7 (NM_003982)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC7A7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A7
    Sirion Biotech Customized lentivirus for stable overexpression of SLC7A7 
                         Customized lentivirus expression plasmids for stable overexpression of SLC7A7 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC7A7
    Search LifeMap BioReagents cell lines for SLC7A7
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A7


    (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 SLC7A7 About   (see all 6)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for SLC7A7 (see all 8)
        Hemostasis
    Transmembrane transport of small molecules
    SLC-mediated transmembrane transport
    Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides


    1         Kegg Pathway  (Kegg details for SLC7A7):
        Protein digestion and absorption


    SLC7A7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC7A7

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC7A7 (Q9UM013 ENSP000002858504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC3A2P081953, ENSP000003671244I2D: score=2 STRING: ENSP00000367124
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006461protein complex assembly TAS9829974
    GO:0006520cellular amino acid metabolic process TAS9829974
    GO:0006810transport TAS9829974
    GO:0006811ion transport TAS--

    SLC7A7 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

    SLC7A7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC7A7 (YLAT1)

    2 HMDB Compounds for SLC7A7    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    SodiumSodium (see all 2)7440-23-5--

    3 Novoseek inferred chemical compound relationships for SLC7A7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 48.7 2 11544277 (1), 9887380 (1)
    ornithine 40.6 1 9887380 (1)
    lysine 26.6 1 9887380 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC7A7 / YLAT1

    (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 SLC7A7 gene (3 alternative transcripts): 
    NM_001126105.2  NM_001126106.2  NM_003982.3  

    Unigene Cluster for SLC7A7:

    Solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
    Hs.513147  [show with all ESTs]
    Unigene Representative Sequence: AB209591
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000285850(uc001wgr.4) ENST00000555702(uc001wgu.4 uc001wgv.4)
    ENST00000397532 ENST00000556287(uc001wgt.4) ENST00000397529 ENST00000397528(uc001wgs.4)
    ENST00000554061 ENST00000555678 ENST00000554517 ENST00000556350 ENST00000554758
    ENST00000488800 ENST00000555251 ENST00000557629 ENST00000555911 ENST00000557129
    ENST00000554741 ENST00000555959
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC7A7
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A7:
    hsa-miR-22 hsa-miR-548p hsa-miR-593 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidSLC7A7 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLC7A7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A7
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC7A7 (see all 19)
    OriGene ORF clones in mouse, rat for SLC7A7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC7A7 (NM_003982)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC7A7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A7
    Sirion Biotech Customized lentivirus for stable overexpression of SLC7A7 
                         Customized lentivirus expression plasmids for stable overexpression of SLC7A7 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SLC7A7
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC7A7
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC7A7
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC7A7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC7A7

    Additional mRNA sequence: 

    AB011263.1 AB020532.1 AB209591.1 AF092032.1 AJ130718.1 AK025377.1 AK301219.1 AK309128.1 
    AK314351.1 AL365450.1 AL365451.1 AL365452.1 BC003062.2 BC010107.2 BX161519.1 BX248291.1 
    NR_040448.1 Y18474.2 

    17 DOTS entries:

    DT.85105429  DT.100818641  DT.91915159  DT.100659356  DT.120778067  DT.92431782  DT.100696601  DT.100833709 
    DT.95273449  DT.100639930  DT.100818643  DT.100844295  DT.40108093  DT.92431783  DT.100818644  DT.101961563 
    DT.120778045 

    24/174 AceView cDNA sequences (see all 174):

    BX326155 BX281404 CR626419 BX161519 CR601579 AI361509 AI216438 CR617040 
    AI244502 AA479330 BC003062 CR605487 BX432594 BX336925 AI424501 CB989334 
    BX248291 AA449914 AA974005 AI682580 CR613648 AA400789 BC010107 AW291861 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A7 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SLC7A7

    (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

    SLC7A7 expression in normal human tissues (normalized intensities)      SLC7A7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTATCAC
    SLC7A7 Expression
    About this image


    SLC7A7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Blood (Extraembryonic Tissues)    fully expand to see all 3 entries
             Peripheral Blood Monocytes (PB CD14+)   
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Fibroblast (Respiratory System)
             Human Pulmonary Artery Fibroblasts (HPAF)   

    See SLC7A7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A7

    SOURCE GeneReport for Unigene cluster: Hs.513147

    UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01
    Tissue specificity: Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in
    lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI
    patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell
    lines, with highest expression in a colon-carcinoma cell line

        SABiosciences Expression via Pathway-Focused PCR Array including SLC7A7: 
              Drug Transporters in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SLC7A7
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC7A7
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC7A7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC7A7
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC7A7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC7A7 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc7a71 , 5 solute carrier family 7 (cationic amino acid transporter, more1, 5 88.19(n)1
    90.75(a)1
      14 (27.76 cM)5
    205401  NM_011405.41  NP_035535.21 
     543694445 
    chicken
    (Gallus gallus)
    Aves SLC7A71 solute carrier family 7 (amino acid transporter light more 65.69(n)
    67.23(a)
      420216  XM_418326.3  XP_418326.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC7A76
    solute carrier family 7 (amino acid transporter li...
    75(a)
    1 ↔ 1
    GL343491.1(548926-564630)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757942 hypothetical protein MGC75794 77.52(n)    BC063340.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc7a71 solute carrier family 7 (cationic amino acid transporter, more 70.71(n)
    76.34(a)
      641560  NM_001037559.1  NP_001032648.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mnd1 , 3 amino acid transporter3
    minidiscs1
    52(a)
    (best of 3)3
    56.17(n)1
    52.77(a)1
      396251  NM_168601.21  NP_730006.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C8.13
    aat-21
    integral membrane protein E16 like3
    Protein AAT-21
    44(a)
    (best of 10)3
    52.55(n)1
    48.56(a)1
      IV(9599614-9601874)3
    1841261  NM_072993.41  NP_505394.21 


    ENSEMBL Gene Tree for SLC7A7 (if available)
    TreeFam Gene Tree for SLC7A7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A7 gene
    SLC7A62  SLC7A112  SLC7A82  SLC7A92  SLC7A52  SLC7A132  SLC7A102  
    14 SIMAP similar genes for SLC7A7 using alignment to 12 protein entries:     YLAT1_HUMAN (see all proteins):
    SLC7A6    DKFZp686K14185    xCT    SLC7A5    SLC7A5P2    SLC7A5P1
    hxCT    lat1    SLC7A10    SLC7A11    SLC7A9    SLC7A8
    SLC7A1    SLC7A13

    SLC7A7 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC7A7
    PGOHUM00000249741


    (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

    10/1352 SNPs in SLC7A7 are shown (see all 1352)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0390974
    Lysinuric protein intolerance (LPI)4--see VAR_0390972 A P mis40--------
    VAR_0305994
    Lysinuric protein intolerance (LPI)4--see VAR_0305992 S P mis40--------
    VAR_0390964
    Lysinuric protein intolerance (LPI)4--see VAR_0390962 L P mis40--------
    VAR_0366094
    A breast cancer sample4--see VAR_0366092 P S mis40--------
    VAR_0305964
    Lysinuric protein intolerance (LPI)4--see VAR_0305962 T I mis40--------
    VAR_0390984
    Lysinuric protein intolerance (LPI)4--see VAR_0390982 F L mis40--------
    VAR_0305954
    Lysinuric protein intolerance (LPI)4--see VAR_0305952 M K mis40--------
    VAR_0305974
    Lysinuric protein intolerance (LPI)4--see VAR_0305972 S F mis40--------
    VAR_0305984
    Lysinuric protein intolerance (LPI)4--see VAR_0305982 R M mis40--------
    VAR_0391014
    Lysinuric protein intolerance (LPI)4--see VAR_0391012 E D mis40--------

    HapMap Linkage Disequilibrium report for SLC7A7 (23242431 - 23299029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC7A7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522410CNV Loss19592680
    nsv519176CNV Loss19592680
    nsv819358CNV Loss19587683
    dgv127n21CNV Gain19592680


    Human Gene Mutation Database (HGMD): SLC7A7
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SLC7A7
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A7

    (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: 603593   
    OMIM disorders: 222700  
    UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01
  • Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal
    excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal
    diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth
    retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis)
    are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the
    basolateral membrane of epithelial cells in kidney and intestine. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for SLC7A7:    About MalaCards
    lysinuric protein intolerance    cystinuria    fanconi syndrome    aminoaciduria
    pulmonary alveolar proteinosis    growth hormone deficiency    diarrhea    monocytic leukemia
    retinitis    endotheliitis    ovarian cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for SLC7A7:
    Pulmonary alveolar proteinosis

    SLC7A7 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SLC7A7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysinuric protein intolerance 98.9 27 10631139 (2), 9199570 (2), 17196863 (2), 12402335 (2) (see all 20)
    hyperammonemia 70.8 3 9199570 (1), 17376816 (1)
    cystinuria 63 3 11377971 (1), 10990376 (1)
    osteoporosis 44 2 17376816 (1)
    growth retardation 27.9 2 17376816 (1)

    GeneTests: SLC7A7
    GeneReviews: SLC7A7
    Genetic Association Database (GAD): SLC7A7
    Human Genome Epidemiology (HuGE) Navigator: SLC7A7 (2 documents)

    Export disorders for SLC7A7 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 SLC7A7 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with SLC7A7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (PubMed id 9829974)1, 2, 3, 9 Torrents D.... Palacin M. (1998)
    2. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. (PubMed id 12402335)1, 2, 9 Shoji Y.... Takada G. (2002)
    3. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (PubMed id 17764084)1, 2, 9 Sperandeo M.P.... Sebastio G. (2008)
    4. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. (PubMed id 15756301)1, 2, 9 Sperandeo M.P.... Sebastio G. (2005)
    5. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. (PubMed id 15776427)1, 2, 9 Sperandeo M.P.... Sebastio G. (2005)
    6. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. (PubMed id 10737982)1, 2, 9 Noguchi A.... Takada G. (2000)
    7. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (PubMed id 10080183)1, 2, 9 Borsani G....Sebastio G. (1999)
    8. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. (PubMed id 10631139)1, 2, 9 Sperandeo M.P.... Borsani G. (2000)
    9. Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). (PubMed id 10655553)1, 2, 9 Mykkaenen J.... Aula P. (2000)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (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: 9056 HGNC: 11065 AceView: SLC7A7 Ensembl:ENSG00000155465 euGenes: HUgn9056
    ECgene: SLC7A7 Kegg: 9056 H-InvDB: SLC7A7

    (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 SLC7A7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC7A7 gene:
    Search GeneIP for patents involving SLC7A7

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     cDNA Clones for SLC7A7 (SLC7A7)   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SLC7A7  
     OriGene qPCR primer pairs and template standards for SLC7A7   OriGene Protein Over-expression Lysate for SLC7A7  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC7A7  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC7A7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC7A7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC7A7   OriGene Custom Protein Services for SLC7A7  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC7A7
     QIAGEN SeqTarget long-range PCR primers for resequencing SLC7A7
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A7
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A7
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC7A7
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC7A7
     GenScript Custom Purified and Recombinant Proteins Services for SLC7A7 GenScript cDNA clones with any tag delivered in your preferred vector for SLC7A7
     GenScript Custom Assay Services for SLC7A7 GenScript Custom Superior Antibodies Services for SLC7A7
     GenScript Custom overexpressing Cell Line Services for SLC7A7 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SLC7A7 promoter
     Search Chromatin IP Primers for SLC7A7
     RT2 qPCR Primer Assay in human, mouse, rat SLC7A7
     GNC Network for SLC7A7
     SABiosciences PCR Arrays including human, mouse, rat SLC7A7
     Search Tocris compounds for SLC7A7 (YLAT1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SLC7A7 antibodies
     SLC7A7 proteins
     SLC7A7 lysates
     Antibodies for SLC7A7
     See all of Abcam's Antibodies, Kits and Proteins for SLC7A7
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for SLC7A7
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A7
     SwitchGear 3'UTR luciferase reporter plasmids for SLC7A7
     SwitchGear Promoter luciferase reporter plasmids for SLC7A7
     Search ThermoFisher Antibodies for SLC7A7
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A7
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC7A7
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC7A7
    Customized:
     lentivirus for stable overexpression of SLC7A7
     lentivirus expression plasmids for stable overexpression of SLC7A7
     adenovirus for overexpression of SLC7A7
     LSBio Antibodies in human, mouse, rat for SLC7A7
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SLC7A7 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4