• Gene id: 6532

Gene Summary

• Gene Symbol: SLC6A4   Gene   UCSC   Ensembl
• Aliases: 5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT, SERT1, hSERT
• Gene name: solute carrier family 6 member 4
• Alternate names: sodium-dependent serotonin transporter, 5-hydroxytryptamine (serotonin) transporter, 5HT transporter, Na+/Cl- dependent serotonin transporter, serotonin transporter 1, solute carrier family 6 (neurotransmitter transporter), member 4, solute carrier family 6 (ne,
• Gene location: 17q11.2 (30235696: 30194318)     Exons: 15     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 182138

Protein Summary

• Protein general information: P31645  
  • Name: Sodium dependent serotonin transporter (SERT) (5HT transporter) (5HTT) (Solute carrier family 6 member 4)
  • Length: 630  
  • Mass: 70325
  • Tissue specificity: Expressed in platelets (at protein level). {ECO
• Sequence:

  METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTRHSIPATTTTLVAELH
  QGERETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISI
  WRKICPIFKGIGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHST
  SPAEEFYTRHVLQIHRSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGA
  TLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVS
  GFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAV
  LDEFPHVWAKRRERFVLAVVITCFFGSLVTLTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDV
  KEMLGFSPGWFWRICWVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIIT
  PGTFKERIIKSITPETPTEIPCGDIRLNAV

• Structural information:
  • Interpro: IPR000175  IPR013086  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • PDB: 5I6X 5I6Z 5I71 5I73 5I74 5I75 6AWN 6AWO 6AWP 6AWQ 6DZV 6DZW 6DZY 6DZZ
  • PDBsum: 5I6X 5I6Z 5I71 5I73 5I74 5I75 6AWN 6AWO 6AWP 6AWQ 6DZV 6DZW 6DZY 6DZZ
  • STRING: ENSP00000261707
• Other Databases: GeneCards:  SLC6A4  Malacards:  SLC6A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005326	neurotransmitter transmembrane transporter activity	ISS	molecular function
GO:0008504	monoamine transmembrane transporter activity	ISS	molecular function
GO:0006836	neurotransmitter transport	ISS	biological process
GO:0051610	serotonin uptake	ISS	biological process
GO:0051610	serotonin uptake	IMP	biological process
GO:0005335	serotonin:sodium symporter activity	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0051378	serotonin binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0051610	serotonin uptake	IBA	biological process
GO:0051015	actin filament binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	ISS	cellular component
GO:0005925	focal adhesion	ISS	cellular component
GO:0005335	serotonin:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008504	monoamine transmembrane transporter activity	IDA	molecular function
GO:0015844	monoamine transport	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005335	serotonin:sodium symporter activity	TAS	molecular function
GO:0042136	neurotransmitter biosynthetic process	TAS	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0099154	serotonergic synapse	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042713	sperm ejaculation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032227	negative regulation of synaptic transmission, dopaminergic	IEA	biological process
GO:0021941	negative regulation of cerebellar granule cell precursor proliferation	IEA	biological process
GO:0019811	cocaine binding	IEA	molecular function
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0014064	positive regulation of serotonin secretion	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0005335	serotonin:sodium symporter activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0098810	neurotransmitter reuptake	IEA	biological process
GO:0051610	serotonin uptake	IEA	biological process
GO:0050998	nitric-oxide synthase binding	IEA	molecular function
GO:0046621	negative regulation of organ growth	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0006837	serotonin transport	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0071321	cellular response to cGMP	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0051610	serotonin uptake	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0042310	vasoconstriction	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0006837	serotonin transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0035176	social behavior	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0046621	negative regulation of organ growth	ISS	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0009636	response to toxic substance	IDA	biological process
GO:0051610	serotonin uptake	IDA	biological process
GO:0051610	serotonin uptake	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0012505	endomembrane system	IDA	cellular component
GO:0005335	serotonin:sodium symporter activity	IDA	molecular function
GO:0051610	serotonin uptake	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0090067	regulation of thalamus size	IMP	biological process
GO:0042802	identical protein binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04726	Serotonergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Obsessive-compulsive disorder	KEGG:H01450
Obsessive-compulsive disorder	KEGG:H01450
Sleep apnea	PMID:19014073
Obsessive-compulsive disorder	PMID:14593431
Heart disease	PMID:10381332
autistic disorder	PMID:11920155
Mental depression	PMID:20981038
Asthma	PMID:19806585
Chronic obstructive pulmonary disease	PMID:20981038
congestive heart failure	PMID:17307423
Pulmonary hypertension	PMID:19736308
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)