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    Slc3a1 solute carrier family 3, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 20532, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Slc3a1provided by MGI
    Official Full Name
    solute carrier family 3, member 1provided by MGI
    Primary source
    MGI:MGI:1195264
    See related
    Ensembl:ENSMUSG00000024131 AllianceGenome:MGI:1195264
    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
    D2; D2H; NBAT; NTAA; RBAT
    Summary
    Enables protein heterodimerization activity. Involved in amino acid transport and gene expression. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; intestine; and respiratory system. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC3A1 (solute carrier family 3 member 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney adult (RPKM 126.1), large intestine adult (RPKM 44.6) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 E4; 17 55.17 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (85335775..85371669)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (85028347..85064241)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43453 Neighboring gene post-GPI attachment to proteins 2 pseudogene Neighboring gene RIKEN cDNA 1110020A21 gene Neighboring gene STARR-seq mESC enhancer starr_43455 Neighboring gene STARR-seq mESC enhancer starr_43456 Neighboring gene STARR-positive B cell enhancer mm9_chr17:85356735-85357036 Neighboring gene STARR-seq mESC enhancer starr_43457 Neighboring gene protein phosphatase 1B, magnesium dependent, beta isoform Neighboring gene STARR-positive B cell enhancer ABC_E9445 Neighboring gene STARR-positive B cell enhancer ABC_E4233 Neighboring gene STARR-seq mESC enhancer starr_43458 Neighboring gene prolyl endopeptidase-like Neighboring gene calmodulin-lysine N-methyltransferase Neighboring gene STARR-seq mESC enhancer starr_43460 Neighboring gene STARR-seq mESC enhancer starr_43463 Neighboring gene STARR-positive B cell enhancer mm9_chr17:85588997-85589298 Neighboring gene STARR-seq mESC enhancer starr_43464 Neighboring gene predicted gene, 36826 Neighboring gene STARR-seq mESC enhancer starr_43465 Neighboring gene STARR-seq mESC enhancer starr_43466 Neighboring gene STARR-seq mESC enhancer starr_43468 Neighboring gene STARR-seq mESC enhancer starr_43469 Neighboring gene ribosomal protein L31, pseudogene 16

    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. Metabolic consequences of cystinuria. Woodard LE, et al. BMC Nephrol, 2019 Jun 20. PMID 31221135, Free PMC Article
    2. Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. Sahota A, et al. Urology, 2014 Nov. PMID 25443947, Free PMC Article
    3. An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. Livrozet M, et al. PLoS One, 2014. PMID 25048459, Free PMC Article
    4. Bladder outlet obstruction in male cystinuria mice. Ercolani M, et al. Int Urol Nephrol, 2010 Mar. PMID 19484501, Free PMC Article
    5. Cloning, functional expression and dietary regulation of the mouse neutral and basic amino acid transporter (NBAT). Segawa H, et al. Biochem J, 1997 Dec 1. PMID 9371728, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRISPR/Cas9 engineering of albino cystinuria Type A mice.
      Title: CRISPR/Cas9 engineering of albino cystinuria Type A mice.
    2. 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.
    3. a membrane protein AGT1/SLC7A13 is the second partner of rBAT.
      Title: Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.
    4. In 129S2/SvPasCrl mice, the heavy subunit RBAT of the tetrameric transporter of dibasic amino acids was absent in proximal tubules and identified was a single pathogenic mutation in a highly conserved region of the Slc3a1 gene.
      Title: An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
    5. This study demonistrated that slc3a1 gene expression in mouse dorsal raphe nucleus
      Title: Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
    6. Slc3A1-deficient mice develop cystinuria type I
      Title: A mouse model for cystinuria type I.
    7. 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.
    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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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-cystine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amino acid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vacuolar membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    amino acid transporter heavy chain SLC3A1
    Names
    b(0,+)-type amino acid transport protein
    b(0,+)-type amino acid transporter-related heavy chain
    neutral and basic amino acid transport protein rBAT

    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_009205.2 → NP_033231.2  amino acid transporter heavy chain SLC3A1

      See identical proteins and their annotated locations for NP_033231.2

      Status: VALIDATED

      Source sequence(s)
      AI326967, AK132275, CA493293
      Consensus CDS
      CCDS37711.1
      UniProtKB/Swiss-Prot
      Q91WV7
      UniProtKB/TrEMBL
      O55093
      Related
      ENSMUSP00000024944.8, ENSMUST00000024944.9
      Conserved Domains (3) summary
      cd11359
      Location:115 → 568
      AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins
      TIGR02403
      Location:116 → 604
      trehalose_treC; alpha,alpha-phosphotrehalase
      pfam16028
      Location:64 → 122
      SLC3A2_N; Solute carrier family 3 member 2 N-terminus

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      85335775..85371669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91WV7.1 GenPept UniProtKB/Swiss-Prot:Q91WV7

    Gene LinkOut

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

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