Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6511
Gene name	Solute carrier family 1 member 6
Gene symbol	SLC1A6
Synonyms (NCBI Gene)	EAAT4
Chromosome	19
Chromosome location	19p13.12

Show/Hide all (1)

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

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	IDA	7791878
GO:0001504	Process	Neurotransmitter uptake	IMP	7791878
GO:0001504	Process	Neurotransmitter uptake	NAS	7791878
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	7791878
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	ISS
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	7791878
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7791878
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IBA
GO:0015183	Function	L-aspartate transmembrane transporter activity	IDA	7791878
GO:0015183	Function	L-aspartate transmembrane transporter activity	TAS	7791878
GO:0015293	Function	Symporter activity	IEA
GO:0015501	Function	Glutamate:sodium symporter activity	IBA
GO:0015501	Function	Glutamate:sodium symporter activity	IDA	7791878
GO:0015501	Function	Glutamate:sodium symporter activity	IEA
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015810	Process	Aspartate transmembrane transport	TAS	7791878
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	TAS	7791878
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7791878
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0098657	Process	Import into cell	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	IDA	7791878
GO:0098712	Process	L-glutamate import across plasma membrane	ISS
GO:0098796	Component	Membrane protein complex	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140009	Process	L-aspartate import across plasma membrane	IDA	7791878

MIM	HGNC	e!Ensembl
600637	10944	ENSG00000105143

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

Tissue specificity

TISSUE SPECIFICITY: Brain, mainly in the cerebellum (PubMed:7791878). Expressed densely and selectively in cell bodies of Purkinje cells. {ECO:0000269|PubMed:7791878}.

Sequence

MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL
LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD
NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD
LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV
TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL
IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA
TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL
TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG
KPYKSLMAQEKGASRGRGGNESAM

Sequence length

564

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Glutamatergic synapse Spinocerebellar ataxia		Glutamate Neurotransmitter Release Cycle Transport of inorganic cations/anions and amino acids/oligopeptides

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11850151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	17868051	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11850151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11850151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	11850151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	20231455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12083339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30537735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11850151, 17221839, 17982252		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17221839		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17221839		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	16429157, 20231455, 20603325, 21827906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	11850151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	11850151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34905506, 35462469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC1A6 (solute carrier family 1 member 6)