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    SLC7A6 solute carrier family 7 member 6 [ Homo sapiens (human) ]

    Gene ID: 9057, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC7A6provided by HGNC
    Official Full Name
    solute carrier family 7 member 6provided by HGNC
    Primary source
    HGNC:HGNC:11064
    See related
    Ensembl:ENSG00000103064 MIM:605641; AllianceGenome:HGNC:11064
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAT3; LAT-2; y+LAT-2
    Summary
    Enables L-lysine:L-arginine antiporter activity and arginine binding activity. Involved in L-arginine transmembrane transport; L-leucine transport; and ornithine transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in fat (RPKM 11.5), lymph node (RPKM 10.0) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See SLC7A6 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (68264526..68301819)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74060279..74097601)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68298429..68335722)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:68279742-68280242 Neighboring gene phospholipase A2 group XV Neighboring gene uncharacterized LOC124903704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7645 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:68298967-68300166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11009 Neighboring gene Sharpr-MPRA regulatory region 10574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11010 Neighboring gene Sharpr-MPRA regulatory region 6227 Neighboring gene RNA, U6 small nuclear 1262, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11012 Neighboring gene Sharpr-MPRA regulatory region 7703 Neighboring gene solute carrier family 7 member 6 opposite strand Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:68343854-68344818 Neighboring gene small nucleolar RNA U13 Neighboring gene protein arginine methyltransferase 7 Neighboring gene RNA, U4 small nuclear 30, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Targeting amino acid transport in metastatic castration-resistant prostate cancer: effects on cell cycle, cell growth, and tumor development. Wang Q, et al. J Natl Cancer Inst, 2013 Oct 2. PMID 24052624
    2. Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor. Rii J, et al. Cancer Sci, 2021 Sep. PMID 34050700, Free PMC Article
    3. Suppression of amino acid transporter LAT3 expression on proliferation of K562 cells. Xu SM, et al. J Huazhong Univ Sci Technolog Med Sci, 2013 Oct. PMID 24142711
    4. EGF-activated PI3K/Akt signalling coordinates leucine uptake by regulating LAT3 expression in prostate cancer. Zhang BK, et al. Cell Commun Signal, 2019 Jul 25. PMID 31345230, Free PMC Article
    5. The involvement of L-type amino acid transporters in theanine transport. Yamamoto S, et al. Biosci Biotechnol Biochem, 2012. PMID 23221699

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1.
      Title: STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1.
    2. Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor.
      Title: Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor.
    3. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
      Title: y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
    4. Growth factor-activated PI3K/Akt signalling pathway regulates leucine transport through LAT3 in prostate cancer cell lines
      Title: EGF-activated PI3K/Akt signalling coordinates leucine uptake by regulating LAT3 expression in prostate cancer.
    5. Results suggest that leukemia cell proliferation can be significantly suppressed by blocking amino acid transporter LAT3.
      Title: Suppression of amino acid transporter LAT3 expression on proliferation of K562 cells.
    6. Inhibition of LAT transporters may provide a novel therapeutic target in metastatic castration-resistant prostate cancer, via suppression of mammalian target of rapamycin complex 1 activity and M-phase cell cycle genes.
      Title: Targeting amino acid transport in metastatic castration-resistant prostate cancer: effects on cell cycle, cell growth, and tumor development.
    7. L-theanine is transported mostly via the system L transport pathway and its isoforms
      Title: The involvement of L-type amino acid transporters in theanine transport.
    8. Data show that signaling via the androgen receptor and ATF4 pathways regulates expression of the amino acid transporters LAT1 and LAT3, thereby coordinating their increased expression in prostate cancer cells.
      Title: Androgen receptor and nutrient signaling pathways coordinate the demand for increased amino acid transport during prostate cancer progression.
    9. LAT3 may play a crucial role in the development and maintenance of podocyte structure and function by regulating protein synthesis and the actin cytoskeleton.
      Title: Amino acid transporter LAT3 is required for podocyte development and function.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0245, DKFZp686K15246

    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
    		  
    enables L-arginine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-lysine:L-arginine antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables arginine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables basic amino acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-arginine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-arginine transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in L-leucine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-lysine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amino acid transmembrane transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glycine betaine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neutral amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nitric oxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ornithine transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    Y+L amino acid transporter 2
    Names
    amino acid permease
    cationic amino acid transporter, y+ system
    solute carrier family 7 (amino acid transporter light chain, y+L system), member 6
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 6
    y(+)L-type amino acid transporter 2
    y+LAT2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001076785.3 → NP_001070253.1  Y+L amino acid transporter 2

      See identical proteins and their annotated locations for NP_001070253.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC020978, D87432, DB107640
      Consensus CDS
      CCDS32470.1
      UniProtKB/Swiss-Prot
      Q68DS4, Q7L1N3, Q92536
      Related
      ENSP00000455064.1, ENST00000566454.5
      Conserved Domains (1) summary
      TIGR00911
      Location:17 → 501
      2A0308; L-type amino acid transporter

    2. NM_003983.6 → NP_003974.3  Y+L amino acid transporter 2

      See identical proteins and their annotated locations for NP_003974.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC020978, BC028216, D87432, DB107640
      Consensus CDS
      CCDS32470.1
      UniProtKB/Swiss-Prot
      Q68DS4, Q7L1N3, Q92536
      Related
      ENSP00000219343.6, ENST00000219343.11
      Conserved Domains (1) summary
      TIGR00911
      Location:17 → 501
      2A0308; L-type amino acid transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      68264526..68301819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      74060279..74097601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92536.3 GenPept UniProtKB/Swiss-Prot:Q92536

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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