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Na+-dependent serotonin transporter; 5HT transporter; 5HTT; solute carrier family 6 member 4 (SLC6A4, HTT, SERT)
Function:
- terminates the action of serotonin by its high affinity Na+-dependent reuptake into presynaptic terminals
- interacts with TGFB1I1
Structure:
- belongs to the Na+:neurotransmitter symporter (SNF) family
Compartment: membrane
Polymorphism:
1) a polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR)
a) located approximately 1 kb upstream of the transcription initiation site
b) composed of 16 repeat elements
c) 44-bp insertion or deletion involving repeat elements 6 to 8
d) short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele
e) over half of the Caucasian population has a short allele
f) 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
2) polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD)
3) polymorphisms in SLC6A4 determine genetic susceptibility to alcoholism
Pharmacology:
- target of psychomotor stimulants such as amphetamines or cocaine
General
glycoprotein
solute carrier family 6 (neurotransmitter transporter, SLC6, SLC6A)
Properties
SIZE: entity length = 630 aa
MW = 70 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-87}
transmembrane domain {88-108}
exoplasmic loop {109-115}
transmembrane domain {116-135}
cytoplasmic loop {136-159}
transmembrane domain {160-180}
exoplasmic loop {181-252}
MOTIF: N-glycosylation site {N208}
N-glycosylation site {N217}
transmembrane domain {253-271}
cytoplasmic loop {272-279}
transmembrane domain {280-297}
exoplasmic loop {298-332}
transmembrane domain {333-350}
cytoplasmic loop {351-361}
transmembrane domain {362-383}
exoplasmic loop {384-416}
transmembrane domain {417-436}
cytoplasmic loop {437-463}
transmembrane domain {464-482}
exoplasmic loop {483-497}
transmembrane domain {498-518}
cytoplasmic loop {519-538}
transmembrane domain {539-558}
exoplasmic loop {559-576}
transmembrane domain {577-595}
cytoplasmic domain {596-630}
Database Correlations
OMIM correlations
MORBIDMAP 182138
UniProt P31645
PFAM correlations
Entrez Gene 6532
Kegg hsa:6532
References
- UniProt :accession P31645
- 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