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SLC7A7 Gene

protein-coding   GIFtS: 65
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)
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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   

Export aliases for SLC7A7 gene to outside databases

Previous GC identifers: GC14M020614 GC14M017029 GC14M021232 GC14M022312 GC14M003359


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for 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. Diseases associated with SLC7A7 include lysinuric protein intolerance, and cystinuria. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC7A7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Glycosylation2 at Asn325
  • Modification sites at PhosphoSitePlus

  • See SLC7A7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for SLC7A7
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC7A7 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    YLAT1_HUMAN, Q9UM01: Basolateral cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9829974
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--

    SLC7A7 for ontologies           About GeneDecksing


    (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 SLC7A7 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
    3Protein digestion and absorption
    Protein digestion and absorption
    4Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall
    5Basigin interactions
    Basigin interactions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SLC7A7
        Amino acid transport across the plasma membrane
    Basigin interactions


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


    SLC7A7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A7: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (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, 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 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)



    SLC7A7 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC7A7
      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 

    Selected AceView cDNA sequences (see all 174):

    CR617040 CR626419 BX432594 CR601579 AA974005 BC003062 AI244502 CB989334 
    AI361509 AI682580 BX326155 BX161519 AA449914 BX248291 BC010107 BX420546 
    AA400789 BX281404 AI424501 CR605487 AW291861 CR613648 BX336925 AI216438 

    GeneLoc Exon Structure

    Selected 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™, 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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    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
     selected tissues (see all 5) fully expand
     
     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
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     NULL (Uncategorized)
             DKK1-induced cells
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    SLC7A7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC7A7 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC7A7: 
              Drug Transporters in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC7A7 gene from Selected species (see all 16)    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 88.15(n)1
    90.57(a)1
      14 (27.76 cM)5
    205401  NM_001253679.11  NP_001240608.11 
     543694445 
    chicken
    (Gallus gallus)
    Aves SLC7A71 solute carrier family 7 (amino acid transporter light more 65.69(n)
    67.23(a)
      420216  XM_418326.4  XP_418326.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC7A76
    solute carrier family 7 (amino acid transporter li...
    76(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_079350.51  NP_524074.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F27C8.13
    aat-21
    integral membrane protein E16 like3
    aat-21
    44(a)
    (best of 10)3
    51.79(n)1
    47.47(a)1
      IV(9599614-9601874)3
    1841261  NM_072993.51  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)
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    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
    SLC7A10    hxCT    lat1    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), 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 SLC7A7 (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
    Site Specific Mutation Identification with 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.)
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    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

  • 18 diseases for SLC7A7:    About MalaCards
    lysinuric protein intolerance    cystinuria    fanconi syndrome    aminoaciduria
    pulmonary alveolar proteinosis    growth hormone deficiency    monocytic leukemia    osteoporosis
    diarrhea    breast and colorectal cancer    retinitis    ovarian cancer
    endotheliitis    multiple myeloma    leukemia    colorectal cancer
    myeloma    malaria

    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)
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    PubMed articles for SLC7A7 gene, integrated from 10 sources (see all 58):
    (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. (J. Biol. Chem. 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. (Hum. Mutat. 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. (Hum. Mutat. 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. (Eur. J. Hum. Genet. 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. (Hum. Mutat. 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. (Hum. Mutat. 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. (Nat. Genet. 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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (Mol. Med. 2010)

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

    (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 SLC7A7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC7A7[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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