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    SLC38A7 solute carrier family 38 member 7 [ Homo sapiens (human) ]

    Gene ID: 55238, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC38A7provided by HGNC
    Official Full Name
    solute carrier family 38 member 7provided by HGNC
    Primary source
    HGNC:HGNC:25582
    See related
    Ensembl:ENSG00000103042 MIM:614236; AllianceGenome:HGNC:25582
    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
    SNAT7
    Summary
    Enables L-asparagine:sodium symporter activity and L-glutamine:sodium symporter activity. Involved in asparagine transport and glutamine transport. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 12.2), brain (RPKM 4.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC38A7 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58665109..58684770, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (64457615..64477277, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58699013..58718674, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 1 Neighboring gene transmembrane protein 254-like Neighboring gene uncharacterized LOC124903804 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58662807-58663483 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58663484-58664159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58718046-58718890 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:58732240-58732406 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:58733934-58734162 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:58751959-58753158 Neighboring gene Sharpr-MPRA regulatory region 2773 Neighboring gene glutamic-oxaloacetic transaminase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58767947-58768565 Neighboring gene RNA, U6 small nuclear 1155, pseudogene Neighboring gene RNY5 pseudogene 9

    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
    • 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. Identification of SLC38A7 as a Prognostic Marker and Potential Therapeutic Target of Lung Squamous Cell Carcinoma. Haratake N, et al. Ann Surg, 2021 Sep 1. PMID 34171866
    2. SNAT7 is the primary lysosomal glutamine exporter required for extracellular protein-dependent growth of cancer cells. Verdon Q, et al. Proc Natl Acad Sci U S A, 2017 May 2. PMID 28416685, Free PMC Article
    3. Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2. Dudenkov TM, et al. Clin Pharmacol Ther, 2019 Jul. PMID 30648747, Free PMC Article
    4. Identification of SLC38A7 (SNAT7) protein as a glutamine transporter expressed in neurons. Hägglund MG, et al. J Biol Chem, 2011 Jun 10. PMID 21511949, Free PMC Article
    5. SNAT7 regulates mTORC1 via macropinocytosis. Meng D, et al. Proc Natl Acad Sci U S A, 2022 May 17. PMID 35561222, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNAT7 regulates mTORC1 via macropinocytosis.
      Title: SNAT7 regulates mTORC1 via macropinocytosis.
    2. Identification of SLC38A7 as a Prognostic Marker and Potential Therapeutic Target of Lung Squamous Cell Carcinoma.
      Title: Identification of SLC38A7 as a Prognostic Marker and Potential Therapeutic Target of Lung Squamous Cell Carcinoma.
    3. GWAS identified a novel gene encoding an anastrozole transporter, SLC38A7, as well as epistatic interaction between SNPs in that gene and SNPs near ALPPL2 that influenced both the expression of the transporter and anastrozole plasma concentrations
      Title: Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2.
    4. Cell fractionation confirmed the lysosomal localization of SNAT7, and flux measurements confirmed its substrate selectivity and showed a strong activation by the lysosomal pH gradient. Interestingly, gene silencing or editing experiments revealed that SNAT7 is the primary permeation pathway for glutamine across the lysosomal membrane and it is required for growth of cancer cells in a low free-glutamine environment.
      Title: SNAT7 is the primary lysosomal glutamine exporter required for extracellular protein-dependent growth of cancer cells.
    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10815, FLJ12724

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-asparagine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-asparagine:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-glutamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-glutamine:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-glutamine:sodium symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in asparagine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutamine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutamine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sodium-coupled neutral amino acid transporter 7
    Names
    Sodium-coupled neutral amino acid transporter 7
    amino acid transporter
    putative sodium-coupled neutral amino acid transporter 7

    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_001308384.2 → NP_001295313.1  sodium-coupled neutral amino acid transporter 7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010287
      Consensus CDS
      CCDS76883.1
      UniProtKB/TrEMBL
      H3BMC5
      Related
      ENSP00000454325.1, ENST00000564100.5
      Conserved Domains (1) summary
      cl00456
      Location:49 → 301
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. NM_001369608.1 → NP_001356537.1  sodium-coupled neutral amino acid transporter 7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010287
      Consensus CDS
      CCDS10800.1
      UniProtKB/Swiss-Prot
      Q53GJ9, Q9H9I5, Q9NVC3
      UniProtKB/TrEMBL
      H3BPK8
      Conserved Domains (1) summary
      cl00456
      Location:49 → 457
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. NM_001369609.1 → NP_001356538.1  sodium-coupled neutral amino acid transporter 7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010287
      Consensus CDS
      CCDS10800.1
      UniProtKB/Swiss-Prot
      Q53GJ9, Q9H9I5, Q9NVC3
      UniProtKB/TrEMBL
      H3BPK8
      Conserved Domains (1) summary
      cl00456
      Location:49 → 457
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. NM_001369610.1 → NP_001356539.1  sodium-coupled neutral amino acid transporter 7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010287
      Consensus CDS
      CCDS76883.1
      UniProtKB/TrEMBL
      H3BMC5
      Conserved Domains (1) summary
      cl00456
      Location:49 → 301
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. NM_001369611.1 → NP_001356540.1  sodium-coupled neutral amino acid transporter 7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010287
      Consensus CDS
      CCDS10800.1
      UniProtKB/Swiss-Prot
      Q53GJ9, Q9H9I5, Q9NVC3
      UniProtKB/TrEMBL
      H3BPK8
      Related
      ENSP00000454646.1, ENST00000570101.5
      Conserved Domains (1) summary
      cl00456
      Location:49 → 457
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. NM_018231.3 → NP_060701.1  sodium-coupled neutral amino acid transporter 7 isoform 1

      See identical proteins and their annotated locations for NP_060701.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010287, AK001677
      Consensus CDS
      CCDS10800.1
      UniProtKB/Swiss-Prot
      Q53GJ9, Q9H9I5, Q9NVC3
      UniProtKB/TrEMBL
      H3BPK8
      Related
      ENSP00000219320.3, ENST00000219320.9
      Conserved Domains (1) summary
      cl00456
      Location:49 → 457
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RNA

    1. NR_161424.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010287

    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
      58665109..58684770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023396.2 → XP_016878885.1  sodium-coupled neutral amino acid transporter 7 isoform X1

      Conserved Domains (1) summary
      cl00456
      Location:49 → 297
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. XM_047434325.1 → XP_047290281.1  sodium-coupled neutral amino acid transporter 7 isoform X1

    3. XM_047434326.1 → XP_047290282.1  sodium-coupled neutral amino acid transporter 7 isoform X3

    4. XM_017023398.3 → XP_016878887.1  sodium-coupled neutral amino acid transporter 7 isoform X2

      Conserved Domains (1) summary
      cl00456
      Location:49 → 295
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. XM_017023399.3 → XP_016878888.1  sodium-coupled neutral amino acid transporter 7 isoform X5

      UniProtKB/TrEMBL
      H3BP25
      Conserved Domains (1) summary
      cl00456
      Location:49 → 220
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. XM_047434328.1 → XP_047290284.1  sodium-coupled neutral amino acid transporter 7 isoform X5

    7. XM_047434327.1 → XP_047290283.1  sodium-coupled neutral amino acid transporter 7 isoform X4

      Related
      ENSP00000455119.1, ENST00000566598.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      64457615..64477277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380649.1 → XP_054236624.1  sodium-coupled neutral amino acid transporter 7 isoform X1

    2. XM_054380648.1 → XP_054236623.1  sodium-coupled neutral amino acid transporter 7 isoform X1

    3. XM_054380651.1 → XP_054236626.1  sodium-coupled neutral amino acid transporter 7 isoform X3

    4. XM_054380650.1 → XP_054236625.1  sodium-coupled neutral amino acid transporter 7 isoform X2

    5. XM_054380654.1 → XP_054236629.1  sodium-coupled neutral amino acid transporter 7 isoform X5

    6. XM_054380653.1 → XP_054236628.1  sodium-coupled neutral amino acid transporter 7 isoform X5

    7. XM_054380652.1 → XP_054236627.1  sodium-coupled neutral amino acid transporter 7 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVC3.1 GenPept UniProtKB/Swiss-Prot:Q9NVC3

    Gene LinkOut

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

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