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    SLC6A17 solute carrier family 6 member 17 [ Homo sapiens (human) ]

    Gene ID: 388662, updated on 2-May-2024

    Summary

    Official Symbol
    SLC6A17provided by HGNC
    Official Full Name
    solute carrier family 6 member 17provided by HGNC
    Primary source
    HGNC:HGNC:31399
    See related
    Ensembl:ENSG00000197106 MIM:610299; AllianceGenome:HGNC:31399
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTT4; MRT48
    Summary
    The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    Location:
    1p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110150494..110202202)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110165448..110217172)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110693116..110744824)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1167 Neighboring gene long intergenic non-protein coding RNA 1397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1461 Neighboring gene Sharpr-MPRA regulatory region 1498 Neighboring gene ubiquitin like 4B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1168 Neighboring gene Sharpr-MPRA regulatory region 9728 Neighboring gene SLC6A17 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110740169-110740669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110754533-110755421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1463 Neighboring gene KCNC4 divergent transcript Neighboring gene potassium voltage-gated channel subfamily C member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110777544-110778044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110778045-110778545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1465 Neighboring gene uncharacterized LOC124900436

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in alanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in alanine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glycine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutral amino acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proline transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    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
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sodium-dependent neutral amino acid transporter SLC6A17
    Names
    neurotransmitter transporter 4
    orphan sodium- and chloride-dependent neurotransmitter transporter NTT4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_051945.1 RefSeqGene

      Range
      4981..56689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010898.4NP_001010898.1  sodium-dependent neutral amino acid transporter SLC6A17

      See identical proteins and their annotated locations for NP_001010898.1

      Status: REVIEWED

      Source sequence(s)
      AK289982, AL137437, AL137790, AL355990, HY005833
      Consensus CDS
      CCDS30799.1
      UniProtKB/Swiss-Prot
      A6NEA8, A8K1R7, B9EIR5, Q5T5Q9, Q9H1V8
      Related
      ENSP00000330199.3, ENST00000331565.5
      Conserved Domains (1) summary
      cd11521
      Location:60648
      SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      110150494..110202202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      110165448..110217172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)