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Entry version 181 (12 Aug 2020)
Sequence version 2 (24 Jan 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>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

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Biological processAmino-acid transport, Transport

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    Q9UM01

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-210991, Basigin interactions
    R-HSA-352230, Amino acid transport across the plasma membrane
    R-HSA-5660862, Defective SLC7A7 causes lysinuric protein intolerance (LPI)

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q9UM01

    Protein family/group databases

    Transport Classification Database

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

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:SLC7A7
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000155465.18

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:11065, SLC7A7

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    603593, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9UM01

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Lysinuric protein intolerance (LPI)8 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.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0390925T → I in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833792EnsemblClinVar.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 dbSNP:rs386833811EnsemblClinVar.1
    Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833793EnsemblClinVar.1
    Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908677EnsemblClinVar.1
    Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833814EnsemblClinVar.1
    Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833815EnsemblClinVar.1
    Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833816EnsemblClinVar.1
    Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833819EnsemblClinVar.1
    Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833820EnsemblClinVar.1
    Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833823EnsemblClinVar.1
    Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833824EnsemblClinVar.1
    Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833825EnsemblClinVar.1
    Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833829EnsemblClinVar.1
    Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs72552272EnsemblClinVar.1
    Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833795EnsemblClinVar.1
    Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833797EnsemblClinVar.1
    Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs386833799EnsemblClinVar.1
    Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833810EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    9056

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    SLC7A7

    MalaCards human disease database

    More...
    MalaCardsi
    SLC7A7
    MIMi222700, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000155465

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    470, Lysinuric protein intolerance

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA35925

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q9UM01, Tbio

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB08838, Agmatine
    DB13146, Fluciclovine (18F)
    DB00130, L-Glutamine

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC7A7

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    12643378

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000542811 – 511Y+L amino acid transporter 1Add BLAST511

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei18PhosphoserineBy similarity1
    Modified residuei25PhosphoserineBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi325N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9UM01

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9UM01

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9UM01

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q9UM01

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9UM01

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9UM01

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    85165

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    Q9UM01, 1 site

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9UM01

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q9UM01

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

    <p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000155465, Expressed in monocyte and 184 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9UM01, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9UM01, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000155465, Tissue enhanced (blood, intestine, kidney)

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

    2 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    114518, 2 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9UM01, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000380666

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q9UM01, protein

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1287, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000160134

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_007946_3_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9UM01

    KEGG Orthology (KO)

    More...
    KOi
    K13867

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    IFPTCIA

    Database of Orthologous Groups

    More...
    OrthoDBi
    867824at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9UM01

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313355

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR002293, AA/rel_permease1

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF13520, AA_permease_2, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

    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
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA71D677B6B075894
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    G3V2H8G3V2H8_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    164Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V4U1G3V4U1_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    122Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    D6RFE5D6RFE5_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    141Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V273G3V273_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    116Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V2K0G3V2K0_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    310Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V2L0G3V2L0_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    106Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V5W2G3V5W2_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    114Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V4Z6G3V4Z6_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    245Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    H0YJ95H0YJ95_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    168Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    G3V362G3V362_HUMAN
    Y+L amino acid transporter 1
    SLC7A7
    44Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    There is more potential isoformShow all

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 dbSNP:rs386833792EnsemblClinVar.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 dbSNP:rs386833811EnsemblClinVar.1
    Natural variantiVAR_03909453S → L in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833793EnsemblClinVar.1
    Natural variantiVAR_01026154G → V in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs121908677EnsemblClinVar.1
    Natural variantiVAR_03909591A → V1 PublicationCorresponds to variant dbSNP:rs11568438EnsemblClinVar.1
    Natural variantiVAR_039096124L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833814EnsemblClinVar.1
    Natural variantiVAR_039097140A → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833815EnsemblClinVar.1
    Natural variantiVAR_039098152F → L in LPI; moderately reduced cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833816EnsemblClinVar.1
    Natural variantiVAR_039099159R → C. Corresponds to variant dbSNP:rs11568437EnsemblClinVar.1
    Natural variantiVAR_030596188T → I in LPI; failed to induce cationic amino acid transport activity. 2 PublicationsCorresponds to variant dbSNP:rs386833819EnsemblClinVar.1
    Natural variantiVAR_039100191K → E in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833820EnsemblClinVar.1
    Natural variantiVAR_030597238S → F in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833823EnsemblClinVar.1
    Natural variantiVAR_039101251E → D in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833824EnsemblClinVar.1
    Natural variantiVAR_039102261L → P in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833825EnsemblClinVar.1
    Natural variantiVAR_030598333R → M in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833829EnsemblClinVar.1
    Natural variantiVAR_010262334L → R in LPI; failed to induce cationic amino acid transport activity. 4 PublicationsCorresponds to variant dbSNP:rs72552272EnsemblClinVar.1
    Natural variantiVAR_010999338G → D in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833795EnsemblClinVar.1
    Natural variantiVAR_039103365N → Y in LPI. 1 PublicationCorresponds to variant dbSNP:rs386833797EnsemblClinVar.1
    Natural variantiVAR_011000386S → R in LPI; failed to induce cationic amino acid transport activity. 3 PublicationsCorresponds to variant dbSNP:rs386833799EnsemblClinVar.1
    Natural variantiVAR_036609413P → S in a breast cancer sample; somatic mutation. 1 Publication1
    Natural variantiVAR_030599489S → P in LPI. 2 PublicationsCorresponds to variant dbSNP:rs386833810EnsemblClinVar.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS9574.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_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

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000285850; ENSP00000285850; ENSG00000155465
    ENST00000397528; ENSP00000380662; ENSG00000155465
    ENST00000397529; ENSP00000380663; ENSG00000155465
    ENST00000397532; ENSP00000380666; ENSG00000155465
    ENST00000555702; ENSP00000451881; ENSG00000155465

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    9056

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:9056

    UCSC genome browser

    More...
    UCSCi
    uc001wgr.5, human

    Keywords - Coding sequence diversityi

    Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGRIDi114518, 2 interactors
    IntActiQ9UM01, 1 interactor
    STRINGi9606.ENSP00000380666

    Chemistry databases

    DrugBankiDB08838, Agmatine
    DB13146, Fluciclovine (18F)
    DB00130, L-Glutamine

    Protein family/group databases

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

    PTM databases

    GlyGeniQ9UM01, 1 site
    iPTMnetiQ9UM01
    PhosphoSitePlusiQ9UM01

    Polymorphism and mutation databases

    BioMutaiSLC7A7
    DMDMi12643378

    Proteomic databases

    jPOSTiQ9UM01
    MassIVEiQ9UM01
    MaxQBiQ9UM01
    PaxDbiQ9UM01
    PeptideAtlasiQ9UM01
    PRIDEiQ9UM01
    ProteomicsDBi85165

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    22283, 72 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    9056

    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

    Comparative Toxicogenomics Database

    More...
    CTDi
    9056
    DisGeNETi9056
    EuPathDBiHostDB:ENSG00000155465.18

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC7A7
    GeneReviewsiSLC7A7
    HGNCiHGNC:11065, SLC7A7
    HPAiENSG00000155465, Tissue enhanced (blood, intestine, kidney)
    MalaCardsiSLC7A7
    MIMi222700, phenotype
    603593, gene
    neXtProtiNX_Q9UM01
    OpenTargetsiENSG00000155465
    Orphaneti470, Lysinuric protein intolerance
    PharmGKBiPA35925

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1287, Eukaryota
    GeneTreeiENSGT00940000160134
    HOGENOMiCLU_007946_3_0_1
    InParanoidiQ9UM01
    KOiK13867
    OMAiIFPTCIA
    OrthoDBi867824at2759
    PhylomeDBiQ9UM01
    TreeFamiTF313355

    Enzyme and pathway databases

    PathwayCommonsiQ9UM01
    ReactomeiR-HSA-210991, Basigin interactions
    R-HSA-352230, Amino acid transport across the plasma membrane
    R-HSA-5660862, Defective SLC7A7 causes lysinuric protein intolerance (LPI)
    SABIO-RKiQ9UM01

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    9056, 2 hits in 869 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    SLC7A7, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    SLC7A7

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    9056
    PharosiQ9UM01, Tbio

    Protein Ontology

    More...
    PROi
    PR:Q9UM01
    RNActiQ9UM01, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000155465, Expressed in monocyte and 184 other tissues
    ExpressionAtlasiQ9UM01, baseline and differential
    GenevisibleiQ9UM01, HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR002293, AA/rel_permease1
    PfamiView protein in Pfam
    PF13520, AA_permease_2, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiYLAT1_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UM01
    Secondary accession number(s): B2RAU0
    , D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: January 24, 2001
    Last modified: August 12, 2020
    This is version 181 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    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
    UniProt is an ELIXIR core data resource
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