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    Slc7a9 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 [ Mus musculus (house mouse) ]

    Gene ID: 30962, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Slc7a9provided by MGI
    Official Full Name
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 9provided by MGI
    Primary source
    MGI:MGI:1353656
    See related
    Ensembl:ENSMUSG00000030492 AllianceGenome:MGI:1353656
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CSNU3
    Summary
    Predicted to enable amino acid transmembrane transporter activity; peptide antigen binding activity; and protein heterodimerization activity. Predicted to be involved in L-cystine transport and amino acid transmembrane transport. Located in brush border membrane. Is expressed in several structures, including metanephros and midgut. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC7A9 (solute carrier family 7 member 9). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in large intestine adult (RPKM 139.5), kidney adult (RPKM 97.6) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc7a9 in Genome Data Viewer
    Location:
    7 B2; 7 21.37 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (35148152..35165459)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (35448727..35466034)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E699 Neighboring gene centrosomal protein 89 Neighboring gene predicted gene, 42378 Neighboring gene SCAN domain containing 3 pseudogene Neighboring gene tudor domain containing 12 Neighboring gene stress-induced phosphoprotein 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18633 Neighboring gene nudix hydrolase 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice. Sasaki H, et al. Urolithiasis, 2022 Dec. PMID 35988091
    2. Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice. Di Giacopo A, et al. Am J Physiol Renal Physiol, 2013 Dec 15. PMID 24107421
    3. Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies. Font-Llitjós M, et al. Am J Physiol Renal Physiol, 2007 Sep. PMID 17596531
    4. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Feliubadaló L, et al. Hum Mol Genet, 2003 Sep 1. PMID 12915471
    5. S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model. López de Heredia M, et al. Antioxidants (Basel), 2021 Sep 7. PMID 34573056, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tissue distribution, hormonal regulation, ontogeny, diurnal expression, and induction of mouse cystine transporters Slc3a1 and Slc7a9.
      Title: Tissue distribution, hormonal regulation, ontogeny, diurnal expression, and induction of mouse cystine transporters Slc3a1 and Slc7a9.
    2. A new protocol with d-penicillamine to validate our Slc7a9 knockout mouse model for the study of the therapeutic effect of drugs in the treatment of cystine lithiasis is reported.
      Title: Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
    3. mouse amino acid transport system B0 is a neutral amino acid transporter related to Hartnup disorder
      Title: Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder.
    4. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption
      Title: rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.
    5. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
      Title: Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-cystine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-cystine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables L-cystine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables amino acid transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables antiporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables broad specificity neutral L-amino acid:basic L-amino acid antiporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables broad specificity neutral L-amino acid:basic L-amino acid antiporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables neutral L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables neutral L-amino acid transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables neutral L-amino acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables peptide antigen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-cystine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-cystine transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in L-cystine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amino acid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in basic amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutral amino acid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neutral amino acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in brush border membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    B(0,+)-type amino acid transporter 1
    Names
    b(0,+)AT
    b<o>, + amino acid transporter
    b<o>, +AT
    glycoprotein-associated amino acid transporter b0,+AT1
    solute carrier family 7 member 9

    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_001199015.1 → NP_001185944.1  B(0,+)-type amino acid transporter 1

      See identical proteins and their annotated locations for NP_001185944.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AF192310, BE136295
      Consensus CDS
      CCDS21150.1
      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    2. NM_001199016.1 → NP_001185945.1  B(0,+)-type amino acid transporter 1

      See identical proteins and their annotated locations for NP_001185945.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK142541, BE136295
      Consensus CDS
      CCDS21150.1
      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Related
      ENSMUSP00000112726.2, ENSMUST00000118969.8
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    3. NM_021291.3 → NP_067266.1  B(0,+)-type amino acid transporter 1

      See identical proteins and their annotated locations for NP_067266.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AA104782, AC151535, AK142541, BE136295
      Consensus CDS
      CCDS21150.1
      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Related
      ENSMUSP00000032703.10, ENSMUST00000032703.10
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      35148152..35165459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540045.3 → XP_006540108.1  B(0,+)-type amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_006540108.1

      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Related
      ENSMUSP00000113181.2, ENSMUST00000118383.8
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    2. XM_011250591.2 → XP_011248893.1  B(0,+)-type amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011248893.1

      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    3. XM_006540044.2 → XP_006540107.1  B(0,+)-type amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_006540107.1

      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    4. XM_006540047.2 → XP_006540110.1  B(0,+)-type amino acid transporter 1 isoform X3

      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 326
      2A0308; L-type amino acid transporter

    5. XM_011250592.3 → XP_011248894.1  B(0,+)-type amino acid transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011248894.1

      UniProtKB/Swiss-Prot
      Q9QXA6
      UniProtKB/TrEMBL
      Q3UQE3
      Conserved Domains (1) summary
      TIGR00911
      Location:26 → 484
      2A0308; L-type amino acid transporter

    6. XM_006540046.1 → XP_006540109.1  B(0,+)-type amino acid transporter 1 isoform X2

      Conserved Domains (1) summary
      TIGR00911
      Location:2 → 396
      2A0308; L-type amino acid transporter
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QXA6.1 GenPept UniProtKB/Swiss-Prot:Q9QXA6

    Gene LinkOut

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