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    Slc6a17 solute carrier family 6 (neurotransmitter transporter), member 17 [ Mus musculus (house mouse) ]

    Gene ID: 229706, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Slc6a17provided by MGI
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter), member 17provided by MGI
    Primary source
    MGI:MGI:2442535
    See related
    Ensembl:ENSMUSG00000027894 AllianceGenome:MGI:2442535
    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
    Ntt4; D130012J15Rik
    Summary
    Predicted to enable symporter activity. Involved in brain development. Predicted to be located in several cellular components, including cell projection; cytoplasmic vesicle; and synapse. Predicted to be integral component of plasma membrane. Predicted to be active in synaptic vesicle. Predicted to be intrinsic component of membrane. Is expressed in several structures, including nervous system. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human SLC6A17 (solute carrier family 6 member 17). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 51.2), frontal lobe adult (RPKM 44.9) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 F2.3; 3 46.83 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (107374864..107425334, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (107467548..107518018, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40120 Neighboring gene STARR-seq mESC enhancer starr_08669 Neighboring gene potassium voltage gated channel, Shaw-related subfamily, member 4 Neighboring gene predicted gene, 36097 Neighboring gene ubiquitin-like 4B Neighboring gene aristaless-like homeobox 3

    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. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Iqbal Z, et al. Am J Hum Genet, 2015 Mar 5. PMID 25704603, Free PMC Article
    2. The repertoire of solute carriers of family 6: identification of new human and rodent genes. Höglund PJ, et al. Biochem Biophys Res Commun, 2005 Oct 14. PMID 16125675
    3. Tuning of Glutamate, But Not GABA, Release by an Intrasynaptic Vesicle APP Domain Whose Function Can Be Modulated by β- or α-Secretase Cleavage. Yao W, et al. J Neurosci, 2019 Aug 28. PMID 31235642, Free PMC Article
    4. Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Forrest MP, et al. Nat Commun, 2023 Feb 17. PMID 36808153, Free PMC Article
    5. Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations. Munton RP, et al. Mol Cell Proteomics, 2007 Feb. PMID 17114649

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability.
      Title: Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-leucine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-leucine transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in alanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in alanine transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycine transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutral amino acid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proline transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sodium-dependent neutral amino acid transporter SLC6A17
    Names
    orphan sodium- and chloride-dependent neurotransmitter transporter NTT4

    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_001293689.1 → NP_001280618.1  sodium-dependent neutral amino acid transporter SLC6A17 isoform 1

      See identical proteins and their annotated locations for NP_001280618.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC124727, AK083807, AY155578
      Consensus CDS
      CCDS79998.1
      UniProtKB/Swiss-Prot
      B2RUH5, Q8BJI1, Q8C057, Q8CGQ9
      UniProtKB/TrEMBL
      A0A0R4J252
      Related
      ENSMUSP00000129379.2, ENSMUST00000169449.8
      Conserved Domains (1) summary
      cd11521
      Location:60 → 648
      SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain

    2. NM_172271.2 → NP_758475.1  sodium-dependent neutral amino acid transporter SLC6A17 isoform2

      See identical proteins and their annotated locations for NP_758475.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AY155578
      Consensus CDS
      CCDS38591.1
      UniProtKB/TrEMBL
      A0A0R4J087, A0A0R4J252
      Related
      ENSMUSP00000029499.9, ENSMUST00000029499.15
      Conserved Domains (1) summary
      cd11521
      Location:60 → 645
      SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain

    RNA

    1. NR_121629.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK032262, AY155578

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      107374864..107425334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501407.4 → XP_006501470.1  sodium-dependent neutral amino acid transporter SLC6A17 isoform X1

      See identical proteins and their annotated locations for XP_006501470.1

      UniProtKB/Swiss-Prot
      B2RUH5, Q8BJI1, Q8C057, Q8CGQ9
      UniProtKB/TrEMBL
      A0A0R4J252
      Related
      ENSMUSP00000131888.2, ENSMUST00000168211.2
      Conserved Domains (1) summary
      cd11521
      Location:60 → 648
      SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain

    2. XM_006501406.4 → XP_006501469.1  sodium-dependent neutral amino acid transporter SLC6A17 isoform X1

      See identical proteins and their annotated locations for XP_006501469.1

      UniProtKB/Swiss-Prot
      B2RUH5, Q8BJI1, Q8C057, Q8CGQ9
      UniProtKB/TrEMBL
      A0A0R4J252
      Conserved Domains (1) summary
      cd11521
      Location:60 → 648
      SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BJI1.1 GenPept UniProtKB/Swiss-Prot:Q8BJI1

    Gene LinkOut

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

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