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    SLC7A13 solute carrier family 7 member 13 [ Homo sapiens (human) ]

    Gene ID: 157724, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC7A13provided by HGNC
    Official Full Name
    solute carrier family 7 member 13provided by HGNC
    Primary source
    HGNC:HGNC:23092
    See related
    Ensembl:ENSG00000164893 MIM:617256; AllianceGenome:HGNC:23092
    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
    AGT1; XAT2; AGT-1
    Summary
    Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward kidney (RPKM 11.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC7A13 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (86214063..86230381, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (87334166..87350490, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87226292..87242610, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit d2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87142684-87143185 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87146313-87146865 Neighboring gene uncharacterized LOC105375623 Neighboring gene HNF4 motif-containing MPRA enhancer 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19341 Neighboring gene WWP1 antisense RNA 1 Neighboring gene WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene N-terminal asparagine amidase pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells. Profilo E, et al. Biochim Biophys Acta Mol Basis Dis, 2017 Jun. PMID 28235644
    2. Identification of a novel Na+-independent acidic amino acid transporter with structural similarity to the member of a heterodimeric amino acid transporter family associated with unknown heavy chains. Matsuo H, et al. J Biol Chem, 2002 Jun 7. PMID 11907033
    3. Homologues of amino acid permeases: cloning and tissue expression of XAT1 and XAT2. Blondeau JP. Gene, 2002 Mar 20. PMID 11943479
    4. Mig-6 controls EGFR trafficking and suppresses gliomagenesis. Ying H, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351267, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. data suggest that the cellular energetic deficit due to AGC1 impairment is associated with inappropriate aspartate levels to support neuronal proliferation when glutamine is not used as metabolic substrate
      Title: Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC150476, MGC150477

    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 antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-cystine transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-glutamate 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 aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 7 member 13
    Names
    X-amino acid transporter 2
    amino acid transporter XAT2
    sodium-independent aspartate/glutamate transporter 1
    solute carrier family 7 (anionic amino acid transporter), member 13
    solute carrier family 7, (cationic amino acid transporter, y+ system) member 13

    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_138817.3 → NP_620172.2  solute carrier family 7 member 13

      See identical proteins and their annotated locations for NP_620172.2

      Status: VALIDATED

      Source sequence(s)
      AC084128, AJ417661, AK055815
      Consensus CDS
      CCDS34917.1
      UniProtKB/Swiss-Prot
      Q05C37, Q08AH9, Q8TCU3, Q96N84
      Related
      ENSP00000297524.3, ENST00000297524.8
      Conserved Domains (1) summary
      pfam13520
      Location:16 → 398
      AA_permease_2; Amino acid permease

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      86214063..86230381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516867.3 → XP_011515169.1  solute carrier family 7 member 13 isoform X1

      Conserved Domains (1) summary
      pfam13520
      Location:16 → 389
      AA_permease_2; Amino acid permease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      87334166..87350490 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359845.1 → XP_054215820.1  solute carrier family 7 member 13 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCU3.1 GenPept UniProtKB/Swiss-Prot:Q8TCU3

    Gene LinkOut

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

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