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    SLC6A5 solute carrier family 6 member 5 [ Homo sapiens (human) ]

    Gene ID: 9152, updated on 5-Mar-2024

    Summary

    Official Symbol
    SLC6A5provided by HGNC
    Official Full Name
    solute carrier family 6 member 5provided by HGNC
    Primary source
    HGNC:HGNC:11051
    See related
    Ensembl:ENSG00000165970 MIM:604159; AllianceGenome:HGNC:11051
    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
    NET1; GLYT2; HKPX3; GLYT-2
    Summary
    This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC6A5 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (20599608..20659285)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (20720301..20780085)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (20621154..20680831)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376584 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20020 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20054 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20084 Neighboring gene Sharpr-MPRA regulatory region 9738 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20631780-20631977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:20643011-20643512 Neighboring gene high mobility group box 1 pseudogene 40 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20787638-20787848 Neighboring gene neural EGFL like 1 Neighboring gene uncharacterized LOC105376585 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:20902693-20903205 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:20987919-20988485 Neighboring gene RNA, 5S ribosomal pseudogene 336

    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

    Associated conditions

    Description Tests
    Hyperekplexia 3 Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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 glycine:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycine:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine:sodium symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glycine:sodium symporter activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glycine import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycine import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, glycinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, glycinergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dense core granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in glycinergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    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 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sodium- and chloride-dependent glycine transporter 2
    Names
    norepinephrine transporter 1
    solute carrier family 6 (neurotransmitter transporter, glycine), member 5

    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_013086.3 RefSeqGene

      Range
      5002..64679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318369.2NP_001305298.1  sodium- and chloride-dependent glycine transporter 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090707
      UniProtKB/Swiss-Prot
      Q9Y345
      UniProtKB/TrEMBL
      Q4VAM4
      Conserved Domains (1) summary
      cl00456
      Location:1553
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    2. NM_004211.5NP_004202.4  sodium- and chloride-dependent glycine transporter 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090707
      Consensus CDS
      CCDS7854.1
      UniProtKB/Swiss-Prot
      O95288, Q4VAM7, Q9BX77, Q9Y345
      UniProtKB/TrEMBL
      Q4VAM5, Q4VAM6
      Related
      ENSP00000434364.2, ENST00000525748.6
      Conserved Domains (1) summary
      cd11499
      Location:191787
      SLC6sbd_GlyT2; Na(+)- and Cl(-)-dependent glycine transporter GlyT2; 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      20599608..20659285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018544.3XP_016874033.1  sodium- and chloride-dependent glycine transporter 2 isoform X1

    RNA

    1. XR_007062528.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      20720301..20780085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370482.1XP_054226457.1  sodium- and chloride-dependent glycine transporter 2 isoform X2

    2. XM_054370481.1XP_054226456.1  sodium- and chloride-dependent glycine transporter 2 isoform X1

    RNA

    1. XR_008488491.1 RNA Sequence