SLC6A11 (solute carrier family 6 member 11)

Gene

• Entrez ID: 6538
• Gene name: Solute carrier family 6 member 11
• Gene symbol: SLC6A11
• Synonyms (NCBI Gene): GAT-3, GAT3, GAT4
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	IEA
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005283	Function	Amino acid:sodium symporter activity	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IDA	7874447
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	TAS
GO:0005369	Function	Taurine:sodium symporter activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IDA	29175673
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015718	Process	Monocarboxylic acid transport	IDA	29175673
GO:0015734	Process	Taurine transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1400419
GO:0016597	Function	Amino acid binding	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051936	Process	Gamma-aminobutyric acid reuptake	TAS
GO:0098982	Component	GABA-ergic synapse	IEA

Other IDs

• MIM: 607952
• HGNC: 11044
• e!Ensembl: ENSG00000132164

Protein

• UniProt ID: P48066
• Protein name: Sodium- and chloride-dependent GABA transporter 3 (GAT-3) (Solute carrier family 6 member 11)
• Protein function: Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:7874447). Can also mediate transport of beta-alanine and to a lower extent that of taurine and hypotaurine (By similarity). {ECO:0000250|UniProtKB:P31650
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	50 → 576	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widespread distribution in the brain. {ECO:0000269|PubMed:7874447}.
• Sequence:

  MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFV
  LSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGIT
  CWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATCGHEWNTENC
  VEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGIEHIGNLRWELALCLLAAWTICY
  FCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPDLSRLSDPQVWV
  DAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMA
  YEQGVPIAEVAESGPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVT
  AVVDMYPKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVA
  IFECICIGWVYGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICAGIFIFFLIKYKPLKY
  NNIYTYPAWGYGIGWLMALSSMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKL
  GVSPRMVTVNDCDAKLKSDGTIAAITEKETHF

• Sequence length: 632

Pathways

KEGG:

Synaptic vesicle cycle
GABAergic synapse

Reactome:

Na+/Cl- dependent neurotransmitter transporters
Creatine metabolism
Reuptake of GABA

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	22543975	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29148909		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29160736		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30787615		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39923323	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25256099		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29160736		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	16470700	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29742425		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21367462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21367462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	39923323	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	19680539		★☆☆☆☆ Found in Text Mining only