Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9UM01

- YLAT1_HUMAN

UniProt

Q9UM01 - YLAT1_HUMAN

Protein

Y+L amino acid transporter 1

Gene

SLC7A7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (24 Jan 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    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.5 Publications

    Enzyme regulationi

    Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).

    Kineticsi

    1. KM=31.7 µM for L-leucine (in the presence of 0.1 M NaCl)1 Publication
    2. KM=16.2 µM for L-leucine (in the presence of 0.1 M LiCl)1 Publication

    GO - Molecular functioni

    1. amino acid transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. amino acid transport Source: Reactome
    2. blood coagulation Source: Reactome
    3. cellular amino acid metabolic process Source: ProtInc
    4. ion transport Source: Reactome
    5. leukocyte migration Source: Reactome
    6. protein complex assembly Source: ProtInc
    7. transmembrane transport Source: Reactome
    8. transport Source: ProtInc

    Keywords - Biological processi

    Amino-acid transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_12560. Basigin interactions.
    REACT_13796. Amino acid transport across the plasma membrane.

    Protein family/group databases

    TCDBi2.A.3.8.22. the amino acid-polyamine-organocation (apc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Y+L amino acid transporter 1
    Alternative name(s):
    Monocyte amino acid permease 2
    Short name:
    MOP-2
    Solute carrier family 7 member 7
    y(+)L-type amino acid transporter 1
    Short name:
    Y+LAT1
    Short name:
    y+LAT-1
    Gene namesi
    Name:SLC7A7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:11065. SLC7A7.

    Subcellular locationi

    Basolateral cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51T → I in LPI. 1 Publication
    VAR_039092
    Natural varianti36 – 361Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication
    VAR_039093
    Natural varianti50 – 501M → K in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_030595
    Natural varianti53 – 531S → L in LPI. 1 Publication
    VAR_039094
    Natural varianti54 – 541G → V in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_010261
    Natural varianti124 – 1241L → P in LPI. 1 Publication
    VAR_039096
    Natural varianti140 – 1401A → P in LPI. 1 Publication
    VAR_039097
    Natural varianti152 – 1521F → L in LPI; moderately reduced cationic amino acid transport activity. 1 Publication
    VAR_039098
    Natural varianti188 – 1881T → I in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_030596
    Natural varianti191 – 1911K → E in LPI. 1 Publication
    VAR_039100
    Natural varianti238 – 2381S → F in LPI. 2 Publications
    VAR_030597
    Natural varianti251 – 2511E → D in LPI. 1 Publication
    VAR_039101
    Natural varianti261 – 2611L → P in LPI. 1 Publication
    VAR_039102
    Natural varianti333 – 3331R → M in LPI. 2 Publications
    VAR_030598
    Natural varianti334 – 3341L → R in LPI; failed to induce cationic amino acid transport activity. 3 Publications
    VAR_010262
    Natural varianti338 – 3381G → D in LPI. 2 Publications
    VAR_010999
    Natural varianti365 – 3651N → Y in LPI. 1 Publication
    VAR_039103
    Natural varianti386 – 3861S → R in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_011000
    Natural varianti489 – 4891S → P in LPI. 2 Publications
    VAR_030599

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi222700. phenotype.
    Orphaneti470. Lysinuric protein intolerance.
    PharmGKBiPA35925.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 511511Y+L amino acid transporter 1PRO_0000054281Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei18 – 181PhosphoserineBy similarity
    Glycosylationi325 – 3251N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UM01.
    PaxDbiQ9UM01.
    PRIDEiQ9UM01.

    PTM databases

    PhosphoSiteiQ9UM01.

    Expressioni

    Tissue specificityi

    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.7 Publications

    Inductioni

    Expression is stimulated and enhanced by IFNG/IFN-gamma.1 Publication

    Gene expression databases

    ArrayExpressiQ9UM01.
    BgeeiQ9UM01.
    CleanExiHS_SLC7A7.
    GenevestigatoriQ9UM01.

    Organism-specific databases

    HPAiHPA036227.

    Interactioni

    Subunit structurei

    Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.2 Publications

    Protein-protein interaction databases

    BioGridi114518. 2 interactions.
    IntActiQ9UM01. 1 interaction.
    STRINGi9606.ENSP00000285850.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UM01.
    SMRiQ9UM01. Positions 37-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 5721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei69 – 8921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei107 – 12721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei133 – 15321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei222 – 24221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei259 – 27921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei304 – 32421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei383 – 40321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei416 – 43621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei441 – 46121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    HOVERGENiHBG000476.
    InParanoidiQ9UM01.
    KOiK13867.
    OMAiCLAPYAA.
    OrthoDBiEOG73BVCR.
    PhylomeDBiQ9UM01.
    TreeFamiTF313355.

    Family and domain databases

    InterProiIPR002293. AA/rel_permease1.
    [Graphical view]
    PANTHERiPTHR11785. PTHR11785. 1 hit.
    PfamiPF13520. AA_permease_2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF006060. AA_transporter. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9UM01-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM    50
    IGSGIFVSPK GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS 100
    GASYAYILEA FGGFLAFIRL WTSLLIIEPT SQAIIAITFA NYMVQPLFPS 150
    CFAPYAASRL LAAACICLLT FINCAYVKWG TLVQDIFTYA KVLALIAVIV 200
    AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS GWDTLNYVTE 250
    EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF 300
    ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM 350
    IHVERFTPVP SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ 400
    LYLRWKEPDR PRPLKLSVFF PIVFCLCTIF LVAVPLYSDT INSLIGIAIA 450
    LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT RYLQVLCMSV AAEMDLEDGG 500
    EMPKQRDPKS N 511
    Length:511
    Mass (Da):55,991
    Last modified:January 24, 2001 - v2
    Checksum:iA71D677B6B075894
    GO

    Sequence cautioni

    The sequence CAD62619.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA95120.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51T → I in LPI. 1 Publication
    VAR_039092
    Natural varianti36 – 361Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication
    VAR_039093
    Natural varianti50 – 501M → K in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_030595
    Natural varianti53 – 531S → L in LPI. 1 Publication
    VAR_039094
    Natural varianti54 – 541G → V in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_010261
    Natural varianti91 – 911A → V.1 Publication
    Corresponds to variant rs11568438 [ dbSNP | Ensembl ].
    VAR_039095
    Natural varianti124 – 1241L → P in LPI. 1 Publication
    VAR_039096
    Natural varianti140 – 1401A → P in LPI. 1 Publication
    VAR_039097
    Natural varianti152 – 1521F → L in LPI; moderately reduced cationic amino acid transport activity. 1 Publication
    VAR_039098
    Natural varianti159 – 1591R → C.
    Corresponds to variant rs11568437 [ dbSNP | Ensembl ].
    VAR_039099
    Natural varianti188 – 1881T → I in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_030596
    Natural varianti191 – 1911K → E in LPI. 1 Publication
    VAR_039100
    Natural varianti238 – 2381S → F in LPI. 2 Publications
    VAR_030597
    Natural varianti251 – 2511E → D in LPI. 1 Publication
    VAR_039101
    Natural varianti261 – 2611L → P in LPI. 1 Publication
    VAR_039102
    Natural varianti333 – 3331R → M in LPI. 2 Publications
    VAR_030598
    Natural varianti334 – 3341L → R in LPI; failed to induce cationic amino acid transport activity. 3 Publications
    VAR_010262
    Natural varianti338 – 3381G → D in LPI. 2 Publications
    VAR_010999
    Natural varianti365 – 3651N → Y in LPI. 1 Publication
    VAR_039103
    Natural varianti386 – 3861S → R in LPI; failed to induce cationic amino acid transport activity. 2 Publications
    VAR_011000
    Natural varianti413 – 4131P → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036609
    Natural varianti489 – 4891S → P in LPI. 2 Publications
    VAR_030599

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF092032 mRNA. Translation: AAC83706.1.
    AJ130718 mRNA. Translation: CAA10198.1.
    Y18474 mRNA. Translation: CAB40136.1.
    AB031537 Genomic DNA. Translation: BAA95120.1. Sequence problems.
    AB011263 mRNA. Translation: BAB11849.1.
    AB020532 mRNA. Translation: BAA87623.1.
    BX161519 mRNA. Translation: CAD61952.1.
    BX248291 mRNA. Translation: CAD62619.1. Different initiation.
    AK314351 mRNA. Translation: BAG36987.1.
    CH471078 Genomic DNA. Translation: EAW66245.1.
    CH471078 Genomic DNA. Translation: EAW66246.1.
    CH471078 Genomic DNA. Translation: EAW66247.1.
    CH471078 Genomic DNA. Translation: EAW66248.1.
    BC003062 mRNA. Translation: AAH03062.1.
    BC010107 mRNA. Translation: AAH10107.1.
    CCDSiCCDS9574.1.
    RefSeqiNP_001119577.1. NM_001126105.2.
    NP_001119578.1. NM_001126106.2.
    XP_006720365.1. XM_006720302.1.
    UniGeneiHs.513147.
    Hs.732349.

    Genome annotation databases

    EnsembliENST00000285850; ENSP00000285850; ENSG00000155465.
    ENST00000397528; ENSP00000380662; ENSG00000155465.
    ENST00000397529; ENSP00000380663; ENSG00000155465.
    ENST00000397532; ENSP00000380666; ENSG00000155465.
    ENST00000555702; ENSP00000451881; ENSG00000155465.
    GeneIDi9056.
    KEGGihsa:9056.
    UCSCiuc001wgr.4. human.

    Polymorphism databases

    DMDMi12643378.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF092032 mRNA. Translation: AAC83706.1 .
    AJ130718 mRNA. Translation: CAA10198.1 .
    Y18474 mRNA. Translation: CAB40136.1 .
    AB031537 Genomic DNA. Translation: BAA95120.1 . Sequence problems.
    AB011263 mRNA. Translation: BAB11849.1 .
    AB020532 mRNA. Translation: BAA87623.1 .
    BX161519 mRNA. Translation: CAD61952.1 .
    BX248291 mRNA. Translation: CAD62619.1 . Different initiation.
    AK314351 mRNA. Translation: BAG36987.1 .
    CH471078 Genomic DNA. Translation: EAW66245.1 .
    CH471078 Genomic DNA. Translation: EAW66246.1 .
    CH471078 Genomic DNA. Translation: EAW66247.1 .
    CH471078 Genomic DNA. Translation: EAW66248.1 .
    BC003062 mRNA. Translation: AAH03062.1 .
    BC010107 mRNA. Translation: AAH10107.1 .
    CCDSi CCDS9574.1.
    RefSeqi NP_001119577.1. NM_001126105.2.
    NP_001119578.1. NM_001126106.2.
    XP_006720365.1. XM_006720302.1.
    UniGenei Hs.513147.
    Hs.732349.

    3D structure databases

    ProteinModelPortali Q9UM01.
    SMRi Q9UM01. Positions 37-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114518. 2 interactions.
    IntActi Q9UM01. 1 interaction.
    STRINGi 9606.ENSP00000285850.

    Protein family/group databases

    TCDBi 2.A.3.8.22. the amino acid-polyamine-organocation (apc) family.

    PTM databases

    PhosphoSitei Q9UM01.

    Polymorphism databases

    DMDMi 12643378.

    Proteomic databases

    MaxQBi Q9UM01.
    PaxDbi Q9UM01.
    PRIDEi Q9UM01.

    Protocols and materials databases

    DNASUi 9056.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000285850 ; ENSP00000285850 ; ENSG00000155465 .
    ENST00000397528 ; ENSP00000380662 ; ENSG00000155465 .
    ENST00000397529 ; ENSP00000380663 ; ENSG00000155465 .
    ENST00000397532 ; ENSP00000380666 ; ENSG00000155465 .
    ENST00000555702 ; ENSP00000451881 ; ENSG00000155465 .
    GeneIDi 9056.
    KEGGi hsa:9056.
    UCSCi uc001wgr.4. human.

    Organism-specific databases

    CTDi 9056.
    GeneCardsi GC14M023242.
    GeneReviewsi SLC7A7.
    HGNCi HGNC:11065. SLC7A7.
    HPAi HPA036227.
    MIMi 222700. phenotype.
    603593. gene.
    neXtProti NX_Q9UM01.
    Orphaneti 470. Lysinuric protein intolerance.
    PharmGKBi PA35925.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOVERGENi HBG000476.
    InParanoidi Q9UM01.
    KOi K13867.
    OMAi CLAPYAA.
    OrthoDBi EOG73BVCR.
    PhylomeDBi Q9UM01.
    TreeFami TF313355.

    Enzyme and pathway databases

    Reactomei REACT_12560. Basigin interactions.
    REACT_13796. Amino acid transport across the plasma membrane.

    Miscellaneous databases

    GeneWikii SLC7A7.
    GenomeRNAii 9056.
    NextBioi 33935.
    PROi Q9UM01.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UM01.
    Bgeei Q9UM01.
    CleanExi HS_SLC7A7.
    Genevestigatori Q9UM01.

    Family and domain databases

    InterProi IPR002293. AA/rel_permease1.
    [Graphical view ]
    PANTHERi PTHR11785. PTHR11785. 1 hit.
    Pfami PF13520. AA_permease_2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF006060. AA_transporter. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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."
      Torrents D., Estevez R., Pineda M., Fernandez E., Lloberas J., Shi Y.-B., Zorzano A., Palacin M.
      J. Biol. Chem. 273:32437-32445(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, TISSUE SPECIFICITY, VARIANT LPI ARG-334.
    2. "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family."
      Pfeiffer R., Rossier G., Spindler B., Meier C., Kuehn L.C., Verrey F.
      EMBO J. 18:49-57(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBUNIT.
      Tissue: Testis.
    3. "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance."
      Borsani G., Bassi M.T., Sperandeo M.P., De Grandi A., Buoninconti A., Riboni M., Manzoni M., Incerti B., Pepe A., Andria G., Ballabio A., Sebastio G.
      Nat. Genet. 21:297-301(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Placenta.
    4. "SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families."
      Noguchi A., Shoji Y., Koizumi A., Takahashi T., Shoji Y., Matsumori M., Kayo T., Ohata T., Wada Y., Yoshimura I., Maisawa S., Konishi M., Takasago Y., Takada G.
      Hum. Mutat. 15:367-372(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Molecular and biological characterization of a novel monocyte amino acid permease, MOP-2."
      Takayama K., Yoshimoto M.
      Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    6. "Characterization of a human system y+L amino acid transporter."
      Fukasawa Y., Segawa H., Endou H., Kanai Y.
      Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-91.
      Tissue: Kidney.
    7. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: B-cell and Placenta.
    8. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Umbilical cord blood.
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    11. "Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects."
      Dall'Asta V., Bussolati O., Sala R., Rotoli B.M., Sebastio G., Sperandeo M.P., Andria G., Gazzola G.C.
      Am. J. Physiol. 279:C1829-C1837(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    12. "Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+)."
      Sala R., Rotoli B.M., Colla E., Visigalli R., Parolari A., Bussolati O., Gazzola G.C., Dall'Asta V.
      Am. J. Physiol. 282:C134-C143(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    13. "Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium."
      Arancibia-Garavilla Y., Toledo F., Casanello P., Sobrevia L.
      Exp. Physiol. 88:699-710(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    14. "INFgamma stimulates arginine transport through system y+L in human monocytes."
      Rotoli B.M., Bussolati O., Sala R., Barilli A., Talarico E., Gazzola G.C., Dall'Asta V.
      FEBS Lett. 571:177-181(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION.
    15. "Activation of classical protein kinase C decreases transport via systems y+ and y+L."
      Rotmann A., Simon A., Martine U., Habermeier A., Closs E.I.
      Am. J. Physiol. 292:C2259-C2268(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, INHIBITION.
    16. "Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells."
      Kaneko S., Ando A., Okuda-Ashitaka E., Maeda M., Furuta K., Suzuki M., Matsumura M., Ito S.
      Invest. Ophthalmol. Vis. Sci. 48:464-471(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    17. Cited for: VARIANT LPI ARG-334, CHARACTERIZATION OF VARIANT LPI ARG-334.
    18. Cited for: VARIANT LPI ARG-386.
    19. "Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)."
      Mykkaenen J., Torrents D., Pineda M., Camps M., Yoldi M.E., Horelli-Kuitunen N., Huoponen K., Heinonen M., Oksanen J., Simell O., Savontaus M.-L., Zorzano A., Palacin M., Aula P.
      Hum. Mol. Genet. 9:431-438(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LPI VAL-54 AND ASP-338, CHARACTERIZATION OF VARIANTS LPI VAL-54 AND ARG-334.
    20. "Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance."
      Shoji Y., Noguchi A., Shoji Y., Matsumori M., Takasago Y., Takayanagi M., Yoshida Y., Ihara K., Hara T., Yamaguchi S., Yoshino M., Kaji M., Yamamoto S., Nakai A., Koizumi A., Hokezu Y., Nagamatsu K., Mikami H., Kitajima I., Takada G.
      Hum. Mutat. 20:375-381(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LPI PHE-238 AND PRO-489.
    21. "A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance."
      Sperandeo M.P., Paladino S., Maiuri L., Maroupulos G.D., Zurzolo C., Taglialatela M., Andria G., Sebastio G.
      Eur. J. Hum. Genet. 13:628-634(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS LPI LEU-36 DEL AND LEU-152, SUBCELLULAR LOCATION.
    22. "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene."
      Sperandeo M.P., Annunziata P., Ammendola V., Fiorito V., Pepe A., Soldovieri M.V., Taglialatela M., Andria G., Sebastio G.
      Hum. Mutat. 25:410-410(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LPI LYS-50; ILE-188 AND MET-333, CHARACTERIZATION OF VARIANTS LPI LYS-50; ILE-188 AND ARG-386.
    23. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-413.
    24. "Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene."
      Sperandeo M.P., Andria G., Sebastio G.
      Hum. Mutat. 29:14-21(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LPI ILE-5; GLU-36 DEL; LYS-50; LEU-53; VAL-54; PRO-124; PRO-140; LEU-152; ILE-188; GLU-191; PHE-238; ASP-251; PRO-261; MET-333; ARG-334; ASP-338; TYR-365; ARG-386 AND PRO-489.

    Entry informationi

    Entry nameiYLAT1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UM01
    Secondary accession number(s): B2RAU0
    , D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: January 24, 2001
    Last modified: October 1, 2014
    This is version 137 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3