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    SLC7A7 solute carrier family 7 member 7 [ Homo sapiens (human) ]

    Gene ID: 9056, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC7A7provided by HGNC
    Official Full Name
    solute carrier family 7 member 7provided by HGNC
    Primary source
    HGNC:HGNC:11065
    See related
    Ensembl:ENSG00000155465 MIM:603593
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1
    Summary
    The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
    Expression
    Biased expression in kidney (RPKM 96.7), small intestine (RPKM 45.3) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC7A7 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (22773222..22819796, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23242431..23289000, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OXA1L divergent transcript Neighboring gene von Willebrand factor A domain containing 5B2 pseudogene Neighboring gene OXA1L mitochondrial inner membrane protein Neighboring gene mitochondrial ribosomal protein L52 Neighboring gene matrix metallopeptidase 14

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables basic amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-alpha-amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in basic amino acid transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of arginine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    Y+L amino acid transporter 1
    Names
    monocyte amino acid permease 2
    solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
    y(+)L-type amino acid transporter 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012851.2 RefSeqGene

      Range
      15010..61599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_695

    mRNA and Protein(s)

    1. NM_001126105.3NP_001119577.1  Y+L amino acid transporter 1

      See identical proteins and their annotated locations for NP_001119577.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC003062, BX161519, DB170842
      Consensus CDS
      CCDS9574.1
      UniProtKB/Swiss-Prot
      Q9UM01
      UniProtKB/TrEMBL
      A0A0S2Z502
      Related
      ENSP00000380662.4, ENST00000397528.8
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter
    2. NM_001126106.4NP_001119578.1  Y+L amino acid transporter 1

      See identical proteins and their annotated locations for NP_001119578.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL135998
      Consensus CDS
      CCDS9574.1
      UniProtKB/Swiss-Prot
      Q9UM01
      UniProtKB/TrEMBL
      A0A0S2Z502
      Related
      ENSP00000451881.1, ENST00000555702.5
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter
    3. NM_003982.4NP_003973.3  Y+L amino acid transporter 1

      Status: REVIEWED

      Source sequence(s)
      BX161519, DA044956, Y18474
      Related
      ENSP00000501493.1, ENST00000674313.1
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      22773222..22819796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537299.1XP_011535601.1  Y+L amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011535601.1

      UniProtKB/Swiss-Prot
      Q9UM01
      UniProtKB/TrEMBL
      A0A0S2Z502
      Related
      ENSP00000380663.2, ENST00000397529.6
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter
    2. XM_006720302.2XP_006720365.1  Y+L amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_006720365.1

      UniProtKB/Swiss-Prot
      Q9UM01
      UniProtKB/TrEMBL
      A0A0S2Z502
      Related
      ENSP00000285850.7, ENST00000285850.11
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter
    3. XM_011537298.3XP_011535600.1  Y+L amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011535600.1

      UniProtKB/Swiss-Prot
      Q9UM01
      UniProtKB/TrEMBL
      A0A0S2Z502
      Conserved Domains (1) summary
      TIGR00911
      Location:20493
      2A0308; L-type amino acid transporter
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