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    Slc6a18 solute carrier family 6 (neurotransmitter transporter), member 18 [ Mus musculus (house mouse) ]

    Gene ID: 22598, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Slc6a18provided by MGI
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter), member 18provided by MGI
    Primary source
    MGI:MGI:1336892
    See related
    Ensembl:ENSMUSG00000021612 AllianceGenome:MGI:1336892
    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
    Xt2; B0AT3; Xtrp2; D630001K16Rik
    Summary
    Enables neutral L-amino acid:sodium:chloride symporter activity. Involved in neutral amino acid transport and renal amino acid absorption. Acts upstream of or within amino acid transmembrane transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including metanephros. Orthologous to human SLC6A18 (solute carrier family 6 member 18). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward kidney adult (RPKM 132.5) See more
    Orthologs
    human all
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    Genomic context

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    See Slc6a18 in Genome Data Viewer
    Location:
    13 C1; 13 40.13 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (73809869..73826142, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (73661750..73678023, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene CLPTM1-like Neighboring gene Tert 5' regulatory region Neighboring gene STARR-seq mESC enhancer starr_34994 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:73778847-73779048 Neighboring gene telomerase reverse transcriptase Neighboring gene STARR-seq mESC enhancer starr_34995 Neighboring gene STARR-seq mESC enhancer starr_34996 Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 19 Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 19, opposite strand Neighboring gene solute carrier family 12, member 7 Neighboring gene STARR-seq mESC enhancer starr_34997 Neighboring gene STARR-seq mESC enhancer starr_35002

    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. Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2. Quan H, et al. Mol Cell Biol, 2004 May. PMID 15121838, Free PMC Article
    2. Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. Vanslambrouck JM, et al. Biochem J, 2010 May 27. PMID 20377526
    3. Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin. Fairweather SJ, et al. J Biol Chem, 2015 Oct 2. PMID 26240152, Free PMC Article
    4. Luminal kidney and intestine SLC6 amino acid transporters of B0AT-cluster and their tissue distribution in Mus musculus. Romeo E, et al. Am J Physiol Renal Physiol, 2006 Feb. PMID 16174864
    5. Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. Singer D, et al. J Biol Chem, 2009 Jul 24. PMID 19478081, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of the interaction of amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin
      Title: Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin.
    2. In contrast to its association with ACE2 observed in Xenopus oocytes, experiments with ace2 and collectrin null mice demonstrate that in vivo it is Collectrin, a smaller homologue of ACE2, that is required for functional expression of XT2 in kidney.
      Title: Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.
    3. The XT2 orphan transporter is involved in glycine reabsorption, and the absence of this transporter is sufficient to cause hypertension.
      Title: Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    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 neutral L-amino acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables neutral L-amino acid:sodium:chloride symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within amino acid 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 neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutral amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in renal amino acid absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sodium-dependent neutral amino acid transporter B(0)AT3
    Names
    X transporter protein 2
    b(0)AT3
    sodium and chloride dependent transporter Xtrp2
    sodium- and chloride-dependent transporter XTRP2
    solute carrier family 6 member 18
    system B 0 neutral amino acid transporter AT3

    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_001040692.3 → NP_001035782.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 1

      See identical proteins and their annotated locations for NP_001035782.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC158359
      Consensus CDS
      CCDS36727.1
      UniProtKB/Swiss-Prot
      O88576, O88577, O88578, O88579, O88580, O88581, Q91XG6
      Related
      ENSMUSP00000152525.2, ENSMUST00000222029.2
      Conserved Domains (1) summary
      cd11517
      Location:16 → 591
      SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain

    2. NM_001136087.2 → NP_001129559.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 2

      See identical proteins and their annotated locations for NP_001129559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC158359, AK085473
      Consensus CDS
      CCDS49311.1
      UniProtKB/Swiss-Prot
      O88576
      Related
      ENSMUSP00000105302.3, ENSMUST00000109680.10
      Conserved Domains (1) summary
      cl00456
      Location:16 → 553
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. NM_001168643.1 → NP_001162114.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 3

      See identical proteins and their annotated locations for NP_001162114.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC158359, AK085258
      Consensus CDS
      CCDS88480.1
      UniProtKB/TrEMBL
      A0A217FL56
      Related
      ENSMUSP00000022105.9, ENSMUST00000022105.15
      Conserved Domains (1) summary
      cl00456
      Location:16 → 488
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. NM_001168644.1 → NP_001162115.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 4

      See identical proteins and their annotated locations for NP_001162115.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC158359
      Consensus CDS
      CCDS49312.1
      UniProtKB/Swiss-Prot
      O88576
      Related
      ENSMUSP00000105301.3, ENSMUST00000109679.4
      Conserved Domains (1) summary
      cl00456
      Location:16 → 498
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. NM_001168645.1 → NP_001162116.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 5

      See identical proteins and their annotated locations for NP_001162116.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC158359
      Consensus CDS
      CCDS88479.1
      UniProtKB/Swiss-Prot
      O88576
      Related
      ENSMUSP00000152403.2, ENSMUST00000220650.2
      Conserved Domains (1) summary
      cl00456
      Location:16 → 460
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. NM_001168646.1 → NP_001162117.1  sodium-dependent neutral amino acid transporter B(0)AT3 isoform 6

      See identical proteins and their annotated locations for NP_001162117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 6), compared to isoform 1.
      Source sequence(s)
      AC158359
      Consensus CDS
      CCDS88481.1
      UniProtKB/Swiss-Prot
      O88576
      Related
      ENSMUSP00000152146.2, ENSMUST00000223074.2
      Conserved Domains (1) summary
      cd11517
      Location:16 → 581
      SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      73809869..73826142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_011730.1: Suppressed sequence

      Description
      NM_011730.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88576.1 GenPept UniProtKB/Swiss-Prot:O88576

    Gene LinkOut

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

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