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Protein

Y+L amino acid transporter 1

Gene

SLC7A7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

    GO - Biological processi

    • amino acid transport Source: Reactome
    • cellular amino acid metabolic process Source: ProtInc
    • leukocyte migration Source: Reactome
    • protein complex assembly Source: ProtInc
    • regulation of arginine metabolic process Source: GO_Central
    • transport Source: ProtInc
    Complete GO annotation...

    Keywords - Biological processi

    Amino-acid transport, Transport

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000155465-MONOMER.
    ReactomeiR-HSA-210991. Basigin interactions.
    R-HSA-352230. Amino acid transport across the plasma membrane.
    SABIO-RKQ9UM01.

    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
    Proteomesi
    • UP000005640 Componenti: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:11065. SLC7A7.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
    Transmembranei69 – 89HelicalSequence analysisAdd BLAST21
    Transmembranei107 – 127HelicalSequence analysisAdd BLAST21
    Transmembranei133 – 153HelicalSequence analysisAdd BLAST21
    Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
    Transmembranei186 – 206HelicalSequence analysisAdd BLAST21
    Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
    Transmembranei259 – 279HelicalSequence analysisAdd BLAST21
    Transmembranei304 – 324HelicalSequence analysisAdd BLAST21
    Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
    Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
    Transmembranei441 – 461HelicalSequence analysisAdd BLAST21

    GO - Cellular componenti

    • basolateral plasma membrane Source: UniProtKB-SubCell
    • integral component of plasma membrane Source: ProtInc
    • plasma membrane Source: Reactome
    Complete GO annotation...

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Lysinuric protein intolerance (LPI)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA 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.
    See also OMIM:222700
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0390925T → I in LPI. 1 PublicationCorresponds to variant rs386833792dbSNPEnsembl.1
    Natural variantiVAR_03909336Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication1
    Natural variantiVAR_03059550M → K in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833811dbSNPEnsembl.1
    Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant rs386833793dbSNPEnsembl.1
    Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs121908677dbSNPEnsembl.1
    Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant rs386833814dbSNPEnsembl.1
    Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant rs386833815dbSNPEnsembl.1
    Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833816dbSNPEnsembl.1
    Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833819dbSNPEnsembl.1
    Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant rs386833820dbSNPEnsembl.1
    Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant rs386833823dbSNPEnsembl.1
    Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant rs386833824dbSNPEnsembl.1
    Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant rs386833825dbSNPEnsembl.1
    Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant rs386833829dbSNPEnsembl.1
    Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant rs72552272dbSNPEnsembl.1
    Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant rs386833795dbSNPEnsembl.1
    Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant rs386833797dbSNPEnsembl.1
    Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant rs386833799dbSNPEnsembl.1
    Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant rs386833810dbSNPEnsembl.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi9056.
    MalaCardsiSLC7A7.
    MIMi222700. phenotype.
    OpenTargetsiENSG00000155465.
    Orphaneti470. Lysinuric protein intolerance.
    PharmGKBiPA35925.

    Polymorphism and mutation databases

    BioMutaiSLC7A7.
    DMDMi12643378.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000542811 – 511Y+L amino acid transporter 1Add BLAST511

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei18PhosphoserineBy similarity1
    Modified residuei25PhosphoserineBy similarity1
    Glycosylationi325N-linked (GlcNAc...)Sequence analysis1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UM01.
    PaxDbiQ9UM01.
    PeptideAtlasiQ9UM01.
    PRIDEiQ9UM01.

    PTM databases

    iPTMnetiQ9UM01.
    PhosphoSitePlusiQ9UM01.

    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

    BgeeiENSG00000155465.
    CleanExiHS_SLC7A7.
    ExpressionAtlasiQ9UM01. baseline and differential.
    GenevisibleiQ9UM01. HS.

    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 interactors.
    IntActiQ9UM01. 1 interactor.
    STRINGi9606.ENSP00000285850.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UM01.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG1287. Eukaryota.
    COG0531. LUCA.
    GeneTreeiENSGT00760000119037.
    HOVERGENiHBG000476.
    InParanoidiQ9UM01.
    KOiK13867.
    OMAiDFLCMIH.
    OrthoDBiEOG091G07EM.
    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

            10         20         30         40         50
    MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM
    60 70 80 90 100
    IGSGIFVSPK GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS
    110 120 130 140 150
    GASYAYILEA FGGFLAFIRL WTSLLIIEPT SQAIIAITFA NYMVQPLFPS
    160 170 180 190 200
    CFAPYAASRL LAAACICLLT FINCAYVKWG TLVQDIFTYA KVLALIAVIV
    210 220 230 240 250
    AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS GWDTLNYVTE
    260 270 280 290 300
    EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF
    310 320 330 340 350
    ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM
    360 370 380 390 400
    IHVERFTPVP SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ
    410 420 430 440 450
    LYLRWKEPDR PRPLKLSVFF PIVFCLCTIF LVAVPLYSDT INSLIGIAIA
    460 470 480 490 500
    LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT RYLQVLCMSV AAEMDLEDGG
    510
    EMPKQRDPKS N
    Length:511
    Mass (Da):55,991
    Last modified:January 24, 2001 - v2
    Checksum:iA71D677B6B075894
    GO

    Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0390925T → I in LPI. 1 PublicationCorresponds to variant rs386833792dbSNPEnsembl.1
    Natural variantiVAR_03909336Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication1
    Natural variantiVAR_03059550M → K in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833811dbSNPEnsembl.1
    Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant rs386833793dbSNPEnsembl.1
    Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs121908677dbSNPEnsembl.1
    Natural variantiVAR_03909591A → V.1 PublicationCorresponds to variant rs11568438dbSNPEnsembl.1
    Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant rs386833814dbSNPEnsembl.1
    Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant rs386833815dbSNPEnsembl.1
    Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833816dbSNPEnsembl.1
    Natural variantiVAR_039099159R → C.Corresponds to variant rs11568437dbSNPEnsembl.1
    Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant rs386833819dbSNPEnsembl.1
    Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant rs386833820dbSNPEnsembl.1
    Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant rs386833823dbSNPEnsembl.1
    Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant rs386833824dbSNPEnsembl.1
    Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant rs386833825dbSNPEnsembl.1
    Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant rs386833829dbSNPEnsembl.1
    Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant rs72552272dbSNPEnsembl.1
    Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant rs386833795dbSNPEnsembl.1
    Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant rs386833797dbSNPEnsembl.1
    Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant rs386833799dbSNPEnsembl.1
    Natural variantiVAR_036609413P → S in a breast cancer sample; somatic mutation. 1 Publication1
    Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant rs386833810dbSNPEnsembl.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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.
    XP_011535600.1. XM_011537298.2.
    XP_011535601.1. XM_011537299.1.
    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.5. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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.
    XP_011535600.1. XM_011537298.2.
    XP_011535601.1. XM_011537299.1.
    UniGeneiHs.513147.
    Hs.732349.

    3D structure databases

    ProteinModelPortaliQ9UM01.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114518. 2 interactors.
    IntActiQ9UM01. 1 interactor.
    STRINGi9606.ENSP00000285850.

    Protein family/group databases

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

    PTM databases

    iPTMnetiQ9UM01.
    PhosphoSitePlusiQ9UM01.

    Polymorphism and mutation databases

    BioMutaiSLC7A7.
    DMDMi12643378.

    Proteomic databases

    MaxQBiQ9UM01.
    PaxDbiQ9UM01.
    PeptideAtlasiQ9UM01.
    PRIDEiQ9UM01.

    Protocols and materials databases

    DNASUi9056.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000285850; ENSP00000285850; ENSG00000155465.
    ENST00000397528; ENSP00000380662; ENSG00000155465.
    ENST00000397529; ENSP00000380663; ENSG00000155465.
    ENST00000397532; ENSP00000380666; ENSG00000155465.
    ENST00000555702; ENSP00000451881; ENSG00000155465.
    GeneIDi9056.
    KEGGihsa:9056.
    UCSCiuc001wgr.5. human.

    Organism-specific databases

    CTDi9056.
    DisGeNETi9056.
    GeneCardsiSLC7A7.
    GeneReviewsiSLC7A7.
    HGNCiHGNC:11065. SLC7A7.
    HPAiHPA036227.
    MalaCardsiSLC7A7.
    MIMi222700. phenotype.
    603593. gene.
    neXtProtiNX_Q9UM01.
    OpenTargetsiENSG00000155465.
    Orphaneti470. Lysinuric protein intolerance.
    PharmGKBiPA35925.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1287. Eukaryota.
    COG0531. LUCA.
    GeneTreeiENSGT00760000119037.
    HOVERGENiHBG000476.
    InParanoidiQ9UM01.
    KOiK13867.
    OMAiDFLCMIH.
    OrthoDBiEOG091G07EM.
    PhylomeDBiQ9UM01.
    TreeFamiTF313355.

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000155465-MONOMER.
    ReactomeiR-HSA-210991. Basigin interactions.
    R-HSA-352230. Amino acid transport across the plasma membrane.
    SABIO-RKQ9UM01.

    Miscellaneous databases

    ChiTaRSiSLC7A7. human.
    GeneWikiiSLC7A7.
    GenomeRNAii9056.
    PROiQ9UM01.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000155465.
    CleanExiHS_SLC7A7.
    ExpressionAtlasiQ9UM01. baseline and differential.
    GenevisibleiQ9UM01. HS.

    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.
    ProtoNetiSearch...

    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: November 30, 2016
    This is version 157 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.