Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 6532
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (30235967: 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 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]
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: 70,325

Tissue specificity: Expressed in platelets (at protein level). {ECO

Sequence METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTRHSIPATTTTLVAELH
QGERETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISI
WRKICPIFKGIGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHST
SPAEEFYTRHVLQIHRSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGA
TLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVS
GFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAV
LDEFPHVWAKRRERFVLAVVITCFFGSLVTLTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDV
KEMLGFSPGWFWRICWVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIIT
PGTFKERIIKSITPETPTEIPCGDIRLNAV
Structural information
Interpro:  IPR000175 IPR013086
Prosite:   PS00610 PS00754 PS50267

Pfam:  		 PF03491 PF00209

PDB:  		 5I6X 5I6Z 5I71 5I73 5I74 5I75
PDBsum:   5I6X 5I6Z 5I71 5I73 5I74 5I75
MINT:   577123
STRING:   ENSP00000261707;
Other Databases GeneCards:  SLC6A4;  Malacards:  SLC6A4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
 IEA biological_process
GO:0005335 serotonin:sodium symporte
r activity
 IMP molecular_function
GO:0005335 serotonin:sodium symporte
r activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0005887 integral component of pla
sma membrane
 IC cellular_component
GO:0006837 serotonin transport
 IDA biological_process
GO:0007268 chemical synaptic transmi
ssion
 IBA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0007613 memory
 IEA biological_process
GO:0007623 circadian rhythm
 IEA biological_process
GO:0008504 monoamine transmembrane t
ransporter activity
 IDA molecular_function
GO:0009636 response to toxic substan
ce
 IDA biological_process
GO:0010008 endosome membrane
 IEA cellular_component
GO:0010628 positive regulation of ge
ne expression
 IEA biological_process
GO:0012505 endomembrane system
 IDA cellular_component
GO:0012505 endomembrane system
 IDA cellular_component
GO:0015222 serotonin transmembrane t
ransporter activity
 IMP molecular_function
GO:0015222 serotonin transmembrane t
ransporter activity
 IDA molecular_function
GO:0015844 monoamine transport
 IDA biological_process
GO:0017022 myosin binding
 IEA molecular_function
GO:0017075 syntaxin-1 binding
 IEA molecular_function
GO:0017137 Rab GTPase binding
 IPI molecular_function
GO:0019811 cocaine binding
 IEA molecular_function
GO:0021794 thalamus development
 IMP biological_process
GO:0021941 negative regulation of ce
rebellar granule cell pre
cursor proliferation
 IEA biological_process
GO:0032227 negative regulation of sy
naptic transmission, dopa
minergic
 IEA biological_process
GO:0032355 response to estradiol
 IEA biological_process
GO:0035176 social behavior
 ISS biological_process
GO:0042310 vasoconstriction
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042713 sperm ejaculation
 IEA biological_process
GO:0042803 protein homodimerization
activity
 IEA molecular_function
GO:0043005 neuron projection
 IBA cellular_component
GO:0045121 membrane raft
 IDA cellular_component
GO:0045665 negative regulation of ne
uron differentiation
 IEA biological_process
GO:0045787 positive regulation of ce
ll cycle
 IEA biological_process
GO:0046621 negative regulation of or
gan growth
 ISS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048854 brain morphogenesis
 ISS biological_process
GO:0050998 nitric-oxide synthase bin
ding
 IEA molecular_function
GO:0051015 actin filament binding
 ISS molecular_function
GO:0051259 protein oligomerization
 ISS biological_process
GO:0051260 protein homooligomerizati
on
 IEA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IMP biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0055085 transmembrane transport
 IEA biological_process
GO:0071300 cellular response to reti
noic acid
 IEA biological_process
GO:0071321 cellular response to cGMP
 IEA biological_process
GO:0098793 presynapse
 IEA cellular_component
GO:0001666 response to hypoxia
 IEA biological_process
GO:0005328 neurotransmitter:sodium s
ymporter activity
 IEA molecular_function
GO:0005335 serotonin:sodium symporte
r activity
 IEA molecular_function
GO:0005335 serotonin:sodium symporte
r activity
 IMP molecular_function
GO:0005335 serotonin:sodium symporte
r activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005768 endosome
 IEA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005887 integral component of pla
sma membrane
 IEA cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0005887 integral component of pla
sma membrane
 IC cellular_component
GO:0006810 transport
 IEA biological_process
GO:0006836 neurotransmitter transpor
t
 IEA biological_process
GO:0006836 neurotransmitter transpor
t
 IEA biological_process
GO:0006837 serotonin transport
 IEA biological_process
GO:0006837 serotonin transport
 IDA biological_process
GO:0007268 chemical synaptic transmi
ssion
 IBA biological_process
GO:0007420 brain development
 IEA biological_process
GO:0007584 response to nutrient
 IEA biological_process
GO:0007613 memory
 IEA biological_process
GO:0007623 circadian rhythm
 IEA biological_process
GO:0008504 monoamine transmembrane t
ransporter activity
 IDA molecular_function
GO:0009636 response to toxic substan
ce
 IDA biological_process
GO:0010008 endosome membrane
 IEA cellular_component
GO:0010033 response to organic subst
ance
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IEA biological_process
GO:0012505 endomembrane system
 IEA cellular_component
GO:0012505 endomembrane system
 IEA cellular_component
GO:0012505 endomembrane system
 IDA cellular_component
GO:0012505 endomembrane system
 IDA cellular_component
GO:0015222 serotonin transmembrane t
ransporter activity
 IEA molecular_function
GO:0015222 serotonin transmembrane t
ransporter activity
 IMP molecular_function
GO:0015222 serotonin transmembrane t
ransporter activity
 IDA molecular_function
GO:0015293 symporter activity
 IEA molecular_function
GO:0015844 monoamine transport
 IDA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0017022 myosin binding
 IEA molecular_function
GO:0017075 syntaxin-1 binding
 IEA molecular_function
GO:0017137 Rab GTPase binding
 IPI molecular_function
GO:0019811 cocaine binding
 IEA molecular_function
GO:0021794 thalamus development
 IMP biological_process
GO:0021941 negative regulation of ce
rebellar granule cell pre
cursor proliferation
 IEA biological_process
GO:0032227 negative regulation of sy
naptic transmission, dopa
minergic
 IEA biological_process
GO:0032355 response to estradiol
 IEA biological_process
GO:0035176 social behavior
 IEA biological_process
GO:0035176 social behavior
 ISS biological_process
GO:0042310 vasoconstriction
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042713 sperm ejaculation
 IEA biological_process
GO:0042803 protein homodimerization
activity
 IEA molecular_function
GO:0043005 neuron projection
 IEA cellular_component
GO:0043005 neuron projection
 IBA cellular_component
GO:0045121 membrane raft
 IEA cellular_component
GO:0045121 membrane raft
 IDA cellular_component
GO:0045665 negative regulation of ne
uron differentiation
 IEA biological_process
GO:0045787 positive regulation of ce
ll cycle
 IEA biological_process
GO:0046621 negative regulation of or
gan growth
 IEA biological_process
GO:0046621 negative regulation of or
gan growth
 ISS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048854 brain morphogenesis
 IEA biological_process
GO:0048854 brain morphogenesis
 ISS biological_process
GO:0050998 nitric-oxide synthase bin
ding
 IEA molecular_function
GO:0051015 actin filament binding
 IEA molecular_function
GO:0051015 actin filament binding
 ISS molecular_function
GO:0051259 protein oligomerization
 IEA biological_process
GO:0051259 protein oligomerization
 ISS biological_process
GO:0051260 protein homooligomerizati
on
 IEA biological_process
GO:0051610 serotonin uptake
 IEA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IMP biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0055085 transmembrane transport
 IEA biological_process
GO:0071300 cellular response to reti
noic acid
 IEA biological_process
GO:0071310 cellular response to orga
nic substance
 IEA biological_process
GO:0071321 cellular response to cGMP
 IEA biological_process
GO:0098793 presynapse
 IEA cellular_component
GO:0005335 serotonin:sodium symporte
r activity
 IMP molecular_function
GO:0005335 serotonin:sodium symporte
r activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005887 integral component of pla
sma membrane
 IBA cellular_component
GO:0005887 integral component of pla
sma membrane
 IC cellular_component
GO:0006837 serotonin transport
 IDA biological_process
GO:0007268 chemical synaptic transmi
ssion
 IBA biological_process
GO:0008504 monoamine transmembrane t
ransporter activity
 IDA molecular_function
GO:0009636 response to toxic substan
ce
 IDA biological_process
GO:0012505 endomembrane system
 IDA cellular_component
GO:0012505 endomembrane system
 IDA cellular_component
GO:0015222 serotonin transmembrane t
ransporter activity
 IMP molecular_function
GO:0015222 serotonin transmembrane t
ransporter activity
 IDA molecular_function
GO:0015844 monoamine transport
 IDA biological_process
GO:0017137 Rab GTPase binding
 IPI molecular_function
GO:0021794 thalamus development
 IMP biological_process
GO:0035176 social behavior
 ISS biological_process
GO:0043005 neuron projection
 IBA cellular_component
GO:0045121 membrane raft
 IDA cellular_component
GO:0046621 negative regulation of or
gan growth
 ISS biological_process
GO:0048854 brain morphogenesis
 ISS biological_process
GO:0051015 actin filament binding
 ISS molecular_function
GO:0051259 protein oligomerization
 ISS biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IDA biological_process
GO:0051610 serotonin uptake
 IMP biological_process
GO:0051610 serotonin uptake
 IDA biological_process

KEGG pathways

hsa04726  Serotonergic synapse

Diseases

Associated diseases References
Alzheimer's disease PMID: 16362633
Anorexia nervosa PMID: 15211642
Anxiety disorder PMID: 10822353
Attention-deficit hyperactivity disorder (ADHD) PMID: 11425009
Autism PMID: 12232775
Bipolar disorder PMID: 16186633
Bulimia PMID: 17823651
Chronic obstructive pulmonary disease (COPD) PMID: 14530202
Conduct disorder PMID: 16972235
Depression PMID: 15241435
Down syndrome PMID: 18270821
Dyspepsia PMID: 18331431
Dysphoria PMID: 12573307
Eating disorders PMID: 16249995
Endometriosis PMID: 15299092
Epilepsy PMID: 17548158
Fibromyalgia PMID: 12111622
Gastrointestinal disorders PMID: 15138209
Irritable bowel syndrome PMID: 15312441
Major depressive disorder PMID: 11311507
Mood disorders PMID: 16319504
Endometriosis INFBASE15299092
Myocardial infarction PMID: 12605580
Nausea PMID: 17697394
Nephritis PMID: 17009264
Neuroticism PMID: 10089017
Obesity PMID: 16491645
Obsessive compulsive disorder PMID: 15005715
Panic disorder PMID: 15670397
Parkinson's disease PMID: 16459126
Personality disorders PMID: 12808427
Premenstrual dysphoric disorder PMID: 17026953
Psychiatric disorders PMID: 15048655
Puerperal disorders PMID: 17728663
Schizophrenia PMID: 16281377
Sleep disorders PMID: 16215942
Stomatitis PMID: 16091117
Sudden infant death syndrome (SIDS) PMID: 12966525
Tardive dyskinesia PMID: 14583797
Tourette syndrome PMID: 11166081

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15299092 Endometrio
sis

Female infertility PDGFRA
PKC beta1
JAK1
Sprouty2
MKK7
COUP-TF2
PGE2EP
 Show abstract