SLC6A11 (solute carrier family 6 member 11)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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) Show/Hide all (30)

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 Pathway	Reactome Pathway
Synaptic vesicle cycle	Na+/Cl- dependent neurotransmitter transporters
GABAergic synapse	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	Reference	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	21499247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	35815403	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (16)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SLC6A12 5 shared pathwaysSynaptic vesicle cycle, GABAergic synapse, Na+/Cl- dependent neurotransmitter transporters, Creatine metabolism, Reuptake of GABA Related via 5 shared pathways including Synaptic vesicle cycle, GABAergic synapse. SLC6A1 4 shared pathwaysSynaptic vesicle cycle, GABAergic synapse, Na+/Cl- dependent neurotransmitter transporters, Reuptake of GABA Related via 4 shared pathways including Synaptic vesicle cycle, GABAergic synapse. SLC6A13 4 shared pathwaysSynaptic vesicle cycle, GABAergic synapse, Na+/Cl- dependent neurotransmitter transporters, Reuptake of GABA Related via 4 shared pathways including Synaptic vesicle cycle, GABAergic synapse. KLRB1 1 shared diseaseColorectal adenoma 2 shared evidence sourcesGWAS catalog (Colorectal adenoma), CTD (Melanoma) Related via 1 shared disease including Colorectal adenoma — evidence mostly GWAS catalog. SLC6A7 3 shared pathwaysSynaptic vesicle cycle, Na+/Cl- dependent neurotransmitter transporters, Creatine metabolism Related via 3 shared pathways including Synaptic vesicle cycle, Na+/Cl- dependent neurotransmitter transporters.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SLC6A12	0	[]	5	["Synaptic vesicle cycle","GABAergic synapse","Na+\/Cl- dependent neurotransmitter transporters","Creatine metabolism","Reuptake of GABA"]	0	[]
SLC6A1	0	[]	4	["Synaptic vesicle cycle","GABAergic synapse","Na+\/Cl- dependent neurotransmitter transporters","Reuptake of GABA"]	0	[]
SLC6A13	0	[]	4	["Synaptic vesicle cycle","GABAergic synapse","Na+\/Cl- dependent neurotransmitter transporters","Reuptake of GABA"]	0	[]
KLRB1	1	["Colorectal adenoma"]	0	[]	2	["GWAS catalog (Colorectal adenoma)","CTD (Melanoma)"]
SLC6A7	0	[]	3	["Synaptic vesicle cycle","Na+\/Cl- dependent neurotransmitter transporters","Creatine metabolism"]	0	[]

Diseases Linked via Similar Genes

Major depressive disorder Linked via 3 of 5 related genesSLC6A1, SLC6A13, SLC6A7 Asthma Linked via 1 of 5 related genesSLC6A12 Alzheimer disease Linked via 1 of 5 related genesSLC6A1 Amyotrophic lateral sclerosis Linked via 1 of 5 related genesSLC6A1 Nonsyndromic intellectual disability Linked via 1 of 5 related genesSLC6A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Major depressive disorder	3	["SLC6A1","SLC6A13","SLC6A7"]
Asthma	1	["SLC6A12"]
Alzheimer disease	1	["SLC6A1"]
Amyotrophic lateral sclerosis	1	["SLC6A1"]
Nonsyndromic intellectual disability	1	["SLC6A1"]