SLC6A4 Gene Summary [Human]

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. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]

Details

Type
Protein Coding
Official Symbol
SLC6A4
Official Name
solute carrier family 6 member 4 [Source:HGNC Symbol;Acc:HGNC:11050]
Ensembl ID
ENSG00000108576
Bio databases IDs NCBI: 6532 Ensembl: ENSG00000108576
Aliases solute carrier family 6 member 4, serotonin transporter 1
Synonyms 5-HTT, 5-HTTLPR, 5-HT TRANSPORTER, hSERT, HTT, OCD1, Serotonin Transporter, SERT, SERT1, solute carrier family 6 member 4, SOLUTE CARRIER family 6, member 4, solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC6A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • serotonin:sodium symporter
  • Serotonin (5-HT) neurotransmitter transporter, N-terminus
  • Sodium:neurotransmitter symporter family
  • serotonin binding
  • metal ion binding
  • enzyme binding
  • cocaine binding
  • neurotransmitter transporter
  • protein binding
  • identical protein binding
  • actin filament binding
  • monoamine transporter
  • syntaxin-1 binding
  • integrin binding
  • transmembrane domain
  • antiporter
  • intracellular domain
  • extracellular loop
  • Solute carrier families 5 and 6-like; solute binding domain
  • cation channel
  • transporter

Pathways

Biological processes and signaling networks where the SLC6A4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • weight gain
  • cancer
  • pain
  • chemotherapy sickness
  • hyperplasia
  • allergy
  • atopic dermatitis
  • chronic interstitial cystitis
  • allergic rhinitis
  • urticaria
regulated by
  • 5-hydroxytryptamine
  • insulin
  • dexamethasone
  • lipopolysaccharide
  • beta-estradiol
  • citalopram
  • SNCA
  • 5-N-ethylcarboxamido adenosine
  • chloride
  • Na+
regulates
role in cell
  • expression in
  • activation in
  • phosphorylation in
  • survival
  • number
  • quantity
  • proliferation
  • activity
  • cell cycle progression
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • raft fractions
  • membrane fraction
  • endomembrane system
  • ganglioside GM1 enriched microdomain
  • Cytoplasm
  • cell surface
  • intracellular space
  • cellular membrane
  • focal adhesions
  • apical cell surfaces
  • presynaptic membrane
  • postsynaptic membrane
  • axon arbors
  • nerve ending
  • synaptosomes
  • synapse
  • membrane rafts
  • cellular protrusions
  • perikaryon
  • axons
  • presynaptic terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sperm ejaculation
  • positive regulation of serotonin secretion
  • negative regulation of neuron differentiation
  • positive regulation of cell cycle
  • vasoconstriction
  • brain morphogenesis
  • response to xenobiotic stimulus
  • memory
  • amino acid transport
  • response to toxin
  • enteric nervous system development
  • neurotransmitter transport
  • response to hypoxia
  • behavioral response to cocaine
  • negative regulation of synaptic transmission, dopaminergic
  • monoamine transport
  • platelet aggregation
  • social behavior
  • regulation of thalamus size
  • negative regulation of cerebellar granule cell precursor proliferation
  • response to nutrient
  • negative regulation of organ growth
  • circadian rhythm
  • serotonin uptake
  • cellular response to cGMP
  • cellular response to retinoic acid
  • positive regulation of gene expression
  • response to estradiol stimulus
  • sodium ion transmembrane transport
  • membrane depolarization

Cellular Component

Where in the cell the gene product is active
  • presynaptic membrane
  • focal adhesion
  • postsynaptic membrane
  • membrane raft
  • endomembrane system
  • endosome membrane
  • synapse
  • neuron projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • antiporter activity
  • cation channel activity
  • integrin binding
  • monoamine transmembrane transporter activity
  • serotonin:sodium symporter activity
  • serotonin binding
  • actin filament binding
  • neurotransmitter transporter activity
  • protein binding
  • syntaxin-1 binding
  • sodium ion binding
  • nitric-oxide synthase binding
  • cocaine binding

Gene-Specific Assays for Results You Can Trust

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