Na+-dependent serotonin transporter; 5HT transporter; 5HTT; solute carrier family 6 member 4 (SLC6A4, HTT, SERT)
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Function
- terminates the action of serotonin by its high affinity Na+-dependent reuptake into presynaptic terminals
- interacts with TGFB1I1
Structure
Compartment
membrane
Polymorphism
- a polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR)
- located approximately 1 kb upstream of the transcription initiation site
- composed of 16 repeat elements
- 44-bp insertion or deletion involving repeat elements 6 to 8
- short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele
- over half of the Caucasian population has a short allele
- individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression & suicidality in relation to stressful life events than individuals homozygous for the long allele
- polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD)
- polymorphisms in SLC6A4 determine genetic susceptibility to alcoholism
Pharmacology
- target of psychomotor stimulants such as amphetamines or cocaine
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P31645.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A4
- ↑ SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SLC6A4
- ↑ Wikipedia; Note: serotonin transporter entry http://en.wikipedia.org/wiki/serotonin_transporter
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6532
- OMIM: https://mirror.omim.org/entry/103780
- OMIM: https://mirror.omim.org/entry/164230
- OMIM: https://mirror.omim.org/entry/182138
- UniProt: http://www.uniprot.org/uniprot/P31645.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6532