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

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Summary

Official Symbol: SLC6A4provided by HGNC
Official Full Name: solute carrier family 6 (neurotransmitter transporter, serotonin), member 4provided by HGNC
Primary source: 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]

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Genomic context

Location :: 17q11.2

Sequence :: Chromosome: 17; NC_000017.10 (28523376..28562954, complement)

See SLC6A4 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Individuals with two short 5-HTTLPR alleles and childhood maltreatment had elevated risk of persistent but not single-episode depression.
Title: Serotonin transporter gene moderates childhood maltreatment's effects on persistent but not single-episode depression: replications and implications for resolving inconsistent results.
This study suggests that the genetic polymorphisms in 5HT2A receptor and serotonin transporter are linked to discrete symptom clusters of major depressive disorder
Title: Genetic polymorphisms in the serotonergic system and symptom clusters of major depressive disorder.
significant effects of the 5-HTTLPR and MAOA-EcoRV polymorphisms on the attentional dimension of trait EI were observed in males.
Title: The effects of serotonin transporter promoter and monoamine oxidase A gene polymorphisms on trait emotional intelligence.
putamen, nucleus accumbens and hypothalamus had significant interaction between two SERT polymorphisms(SERT-LPR and VNTR). findings suggest late & not early onset OCD is associated w/ very low SERT. functional SERT polymorphisms may cause differences.
Title: The serotonin transporter availability in untreated early-onset and late-onset patients with obsessive-compulsive disorder.
Evaluated the role of 5-HTTLPR polymorphism in the etiology of dissociation. Participants with the SS genotype of 5-HTTLPR reported more dissociative symptoms compared to participants with the other genotypes and more patholigical dissociative symptoms.
Title: Behavioral and molecular genetics of dissociation: the role of the serotonin transporter gene promoter polymorphism (5-HTTLPR).
carriers of the 5-HTTLPR short allele who also had a critical mother exhibited attentional avoidance of angry faces.
Title: Children's 5-HTTLPR genotype moderates the link between maternal criticism and attentional biases specifically for facial displays of anger.
gene polymorphism might be associated with irritable bowel syndrome predisposition in Greeks
Title: Serotonin transporter and G protein beta 3 subunit gene polymorphisms in Greeks with irritable bowel syndrome.
This study demonistrated taht relationship between the s allele and avoidant personality traits in a white community-based population and describes an association between the l allele and obsessive-compulsive traits in men.
Title: Association between a serotonin transporter promoter polymorphism (5HTTLPR) and personality disorder traits in a community sample.
The Val1483Ile polymorphism in the FASN was associated with depressive symptoms under the influence of psychological stress. The S variant of 5-HTTLPR was related with less obese.
Title: Val1483Ile polymorphism in the fatty acid synthase gene was associated with depressive symptoms under the influence of psychological stress.
Serotonin neurotransmitters are suspected to etiologically contribute to ASD because of their involvement in neurodevelopment.
Title: MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders.

Submit: New GeneRIF Correction See all (808)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Anxiety-related personality traits

MIM: 607834

Products	Interactant	Other Gene	Source	Pubs	Description
P31645	P27797	CALR	HPRD	PubMed
P31645	Q16623	STX1A	HPRD	PubMed
P31645	P67809	YBX1	HPRD	PubMed
BioGRID:112423	BioGRID:107262	CALR	BioGRID	PubMed	Reconstituted Complex
BioGRID:112423	BioGRID:107271	CANX	BioGRID	PubMed	Reconstituted Complex
BioGRID:112423	BioGRID:112676	STX1A	BioGRID	PubMed	Affinity Capture-Western

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
symporter activity	IEA Inferred from Electronic Annotation more info
syntaxin-1 binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation 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 synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
neurotransmitter transport	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 stimulus	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 organic substance	IEA Inferred from Electronic Annotation more info
response to toxin	IDA Inferred from Direct Assay more info	PubMed
serotonin transport	IDA Inferred from Direct Assay more info	PubMed
serotonin transport	IMP Inferred from Mutant Phenotype more info	PubMed
serotonin uptake	IDA Inferred from Direct Assay more info	PubMed
sperm ejaculation	IEA Inferred from Electronic Annotation more info
thalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
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	IEA Inferred from Electronic Annotation more info
endosome membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IC Inferred by Curator more info	PubMed
membrane raft	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
synaptosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: sodium-dependent serotonin transporter

Names: sodium-dependent serotonin transporter; 5HT transporter; 5-hydroxytryptamine transporter; solute carrier family 6 member 4; Na+/Cl- dependent serotonin transporter

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NCBI Reference Sequences (RefSeq)

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

NG_011747.1 RefSeqGene

Range

5001..44579

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001045.4 → NP_001036.1 sodium-dependent serotonin transporter

Status: REVIEWED

Source sequence(s)

AC104984, AK313166, AY902473, DC345903

Consensus CDS

CCDS11256.1

UniProtKB/TrEMBL

B2R7Y7

UniProtKB/Swiss-Prot

P31645

UniProtKB/TrEMBL

Q5EE02

Related

ENSP00000261707, ENST00000261707

Conserved Domains (2) summary

pfam03491
Location:23 – 64
Blast Score: 232

5HT_transporter; Serotonin (5-HT) neurotransmitter transporter, N-terminus

cl11976
Location:79 – 598
Blast Score: 2013

SNF; Sodium:neurotransmitter symporter family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

28523376..28562954, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

24733723..24773295, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC104984.14 (27888..67216)	None
genomic	AF233399.1	AAF61945.1
genomic	CH471159.1	EAW51223.1
genomic	CS008504.1	CAI53631.1
genomic	EU099989.1	ABV02581.1
genomic	U79746.1	AAB93475.1
genomic	X76753.2	None
genomic	X76754.1	None
genomic	X76755.1	None
genomic	X76756.1	None
genomic	X76757.1	None
genomic	X76758.1	None
genomic	X76759.1	None
genomic	X76760.1	None
genomic	X76761.1	None
genomic	X76762.1	None
mRNA	AA700070.1	None
mRNA	AK308014.1	None
mRNA	AK309538.1	None
mRNA	AK313166.1	BAG35984.1
mRNA	AU138385.1	None
mRNA	AY902473.1	AAW80933.1
mRNA	BC069484.1	AAH69484.1
mRNA	BQ017027.1	None
mRNA	BX399758.2	None
mRNA	DC345903.1	None
mRNA	L05568.1	AAA35492.1
mRNA	X70697.1	CAA50029.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
AAB26687.1	GenPept
P31645.1	GenPept	UniProtKB/Swiss-Prot:P31645
Q5EE02	GenPept	UniProtKB/TrEMBL:Q5EE02
Q9NYN7	GenPept	UniProtKB/TrEMBL:Q9NYN7