SLC1A6 (solute carrier family 1 member 6)

Gene

• Entrez ID: 6511
• Gene name: Solute carrier family 1 member 6
• Gene symbol: SLC1A6
• Synonyms: EAAT4
• Chromosome: 19
• Chromosome location: 19p13.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028877	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	IMP	7791878
GO:0005314	Function	High-affinity glutamate transmembrane transporter activity	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006811	Process	Ion transport	TAS
GO:0007268	Process	Chemical synaptic transmission	TAS	7791878
GO:0014047	Process	Glutamate secretion	TAS
GO:0015183	Function	L-aspartate transmembrane transporter activity	TAS	7791878
GO:0015810	Process	Aspartate transmembrane transport	TAS	7791878
GO:0015813	Process	L-glutamate transmembrane transport	TAS	7791878
GO:0016020	Component	Membrane	TAS	7791878
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0070778	Process	L-aspartate transmembrane transport	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	ISS
GO:0098796	Component	Membrane protein complex	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA

Other IDs

• MIM: 600637
• HGNC: 10944
• e!Ensembl: ENSG00000105143

Protein

• UniProt ID: P48664
• Protein name: Excitatory amino acid transporter 4 (Sodium-dependent glutamate/aspartate transporter) (Solute carrier family 1 member 6)
• Protein function: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:26690923, PubMed:7791878). Functions as a symporter that transports one amino acid molecule together with
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00375	SDF	58 → 522	Sodium:dicarboxylate symporter family	Family

• Sequence:

  MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL
  LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD
  NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD
  LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV
  TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
  EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL
  IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA
  TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL
  TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG
  KPYKSLMAQEKGASRGRGGNESAM

• Sequence length: 564

Pathways

KEGG:

Synaptic vesicle cycle
Glutamatergic synapse
Spinocerebellar ataxia

Reactome:

Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17221839

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		11850151
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	11850151