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    SLC6A4 solute carrier family 6 member 4 [ Homo sapiens (human) ]

    Gene ID: 6532, updated on 6-Dec-2016
    Official Symbol
    SLC6A4provided by HGNC
    Official Full Name
    solute carrier family 6 member 4provided by HGNC
    Primary source
    HGNC:HGNC:11050
    See related
    Ensembl:ENSG00000108576 MIM:182138; Vega:OTTHUMG00000132751
    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
    HTT; 5HTT; OCD1; SERT; 5-HTT; SERT1; hSERT; 5-HTTLPR
    Summary
    This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (30194319..30235968, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28521337..28562986, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 5 Neighboring gene syntaxin 18 pseudogene 1 Neighboring gene microRNA 3184 Neighboring gene microRNA 423 Neighboring gene nuclear speckle splicing regulatory protein 1 Neighboring gene uncharacterized LOC107984991 Neighboring gene uncharacterized LOC105371720 Neighboring gene bleomycin hydrolase Neighboring gene RNA, U6 small nuclear 1267, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Anxiety
    MedGen: C1842981 OMIM: 607834 GeneReviews: Not available
    Compare labs
    Obsessive-compulsive disorder
    MedGen: C1834037 OMIM: 164230 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 clade B Tat up-regulates IDO and down-regulates 5-HTT gene and protein expressions in immature dendritic cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
      Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Serotonin Transporter Activity, organism-specific biosystem (from WikiPathways)
      Serotonin Transporter Activity, organism-specific biosystem
      Serotonin Transporter Activity
    • Serotonin clearance from the synaptic cleft, organism-specific biosystem (from REACTOME)
      Serotonin clearance from the synaptic cleft, organism-specific biosystemSerotonergic neurotransmission affects a wide range of behaviors, from food intake and reproductive activity, to sensory processing and motor activity, to cognition and emotion. One such key regulato...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cocaine binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monoamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin binding IEA
    Inferred from Electronic Annotation
    more info
     
    nitric-oxide synthase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    serotonin transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serotonin:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin:sodium symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    syntaxin-1 binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to cGMP IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    monoamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of organ growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of serotonin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein oligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serotonin uptake IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sperm ejaculation IEA
    Inferred from Electronic Annotation
    more info
     
    thalamus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endomembrane system IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sodium-dependent serotonin transporter
    Names
    5-hydroxytryptamine (serotonin) transporter
    5HT transporter
    Na+/Cl- dependent serotonin transporter
    serotonin transporter 1
    solute carrier family 6 (neurotransmitter transporter), member 4
    solute carrier family 6 (neurotransmitter transporter, serotonin), member 4

    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_011747.2 RefSeqGene

      Range
      4969..46618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001045.5NP_001036.1  sodium-dependent serotonin transporter

      See identical proteins and their annotated locations for NP_001036.1

      Status: REVIEWED

      Source sequence(s)
      AC104984, AK313166, AY902473, BE645279, DC345903
      Consensus CDS
      CCDS11256.1
      UniProtKB/Swiss-Prot
      P31645
      UniProtKB/TrEMBL
      B2R7Y7
      Related
      ENSP00000261707, ENST00000261707
      Conserved Domains (2) summary
      cd11513
      Location:79615
      SLC6sbd_SERT; Na(+)- and Cl(-)-dependent serotonin transporter SERT; solute-binding domain
      pfam03491
      Location:2464
      5HT_transport_N; Serotonin (5-HT) neurotransmitter transporter, N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      30194319..30235968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      28583810..28625471 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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