• Gene id: 6538

Gene Summary

• Gene Symbol: SLC6A11   Gene   UCSC   Ensembl
• Aliases: GAT-3, GAT3, GAT4
• Gene name: solute carrier family 6 member 11
• Alternate names: sodium- and chloride-dependent GABA transporter 3, GABA transporter 3, solute carrier family 6 (neurotransmitter transporter), member 11, solute carrier family 6 (neurotransmitter transporter, GABA), member 11,
• Gene location: 3p25.3 (10816199: 10940713)     Exons: 3     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or int
• OMIM: 607952

Protein Summary

• Protein general information: P48066  
  • Name: Sodium and chloride dependent GABA transporter 3 (GAT 3) (Solute carrier family 6 member 11)
  • Length: 632  
  • Mass: 70606
  • Tissue specificity: Widespread distribution in the brain.
• Sequence:

  MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFVLSVAGEIIGLGNVWR
  FPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGITCWRKVCPLFEGIGYATQVIEAHLNVYYIII
  LAWAIFYLSNCFTTELPWATCGHEWNTENCVEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGIEHIGNLR
  WELALCLLAAWTICYFCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPDLSRLSDPQVWV
  DAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMAYEQGVPIAEVAESGP
  GLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVTAVVDMYPKVFRRGYRRELLILALSVISYFL
  GLVMLTEGGMYIFQLFDSYAASGMCLLFVAIFECICIGWVYGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICA
  GIFIFFLIKYKPLKYNNIYTYPAWGYGIGWLMALSSMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKL
  GVSPRMVTVNDCDAKLKSDGTIAAITEKETHF

• Structural information:
  • Interpro: IPR000175  IPR002982  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • CDD: cd11508
  • STRING: ENSP00000254488
• Other Databases: GeneCards:  SLC6A11  Malacards:  SLC6A11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0042165	neurotransmitter binding	IBA	molecular function
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0042165	neurotransmitter binding	IEA	molecular function
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IEA	molecular function
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098810	neurotransmitter reuptake	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0001504	neurotransmitter uptake	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R