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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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See Slc6a17 in Genome Data Viewer
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

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