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

Gene ID: 6532, updated on 15-Sep-2014
Official Symbol
SLC6A4provided by HGNC
Official Full Name
solute carrier family 6 (neurotransmitter transporter), member 4provided by HGNC
Primary source
HGNC:HGNC:11050
See related
Ensembl:ENSG00000108576; HPRD:01640; 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]
See SLC6A4 in Epigenomics, MapViewer
Location:
17q11.2
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 bleomycin hydrolase Neighboring gene transmembrane and immunoglobulin domain containing 1

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)

ISCA Genome Curation Page
Triplosensitivity

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

ISCA 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 Protein Interaction Database

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
 
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
 
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
 
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 
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 IC
Inferred by Curator
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
sodium-dependent serotonin transporter
Names
sodium-dependent serotonin transporter
5HT transporter
serotonin transporter 1
Na+/Cl- dependent serotonin transporter
5-hydroxytryptamine (serotonin) transporter
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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001036.1

    Status: REVIEWED

    Source sequence(s)
    AC104984, AK313166, AY902473, BE645279, DC345903
    Consensus CDS
    CCDS11256.1
    UniProtKB/TrEMBL
    B2R7Y7
    UniProtKB/Swiss-Prot
    P31645
    Related
    ENSP00000261707, ENST00000261707
    Conserved Domains (2) summary
    pfam03491
    Location:2364
    Blast Score: 240
    5HT_transporter; Serotonin (5-HT) neurotransmitter transporter, N-terminus
    cd11513
    Location:79615
    Blast Score: 2647
    SLC6sbd_SERT; Na(+)- and Cl(-)-dependent serotonin transporter SERT; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

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

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    24731684..24773327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

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