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SLC1A6 - solute carrier family 1 member 6 Gene

Also Known as EAAT4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6511

About SLC1A6

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:14,950,033-15,010,643 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues and 6 paralogues. Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue.

Summary

Predicted to enable high-affinity glutamate transmembrane transporter activity. Involved in neurotransmitter uptake. Located in intermediate filament Cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC1A6 Products (6)

mRNA	Protein	Name
NM_001272087.2	NP_001259016.1	excitatory amino acid transporter 4 isoform 1
NM_001272088.2	NP_001259017.1	excitatory amino acid transporter 4 isoform 1
NM_001384669.1	NP_001371598.1	excitatory amino acid transporter 4 isoform 2
NM_001384670.1	NP_001371599.1	excitatory amino acid transporter 4 isoform 1
NM_001384671.1	NP_001371600.1	excitatory amino acid transporter 4 isoform 3
NM_005071.3	NP_005062.1	excitatory amino acid transporter 4 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables L-aspartate transmembrane transporter activity	IDA IDA: Inferred from direct assay	7791878	GOA
enables L-glutamate transmembrane transporter activity	IDA IDA: Inferred from direct assay	7791878	GOA
enables glutamate:sodium symporter activity	IDA IDA: Inferred from direct assay	7791878	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-aspartate import across plasma membrane	IDA IDA: Inferred from direct assay	7791878	GOA
involved in L-glutamate import across plasma membrane	IDA IDA: Inferred from direct assay	7791878	GOA
involved in neurotransmitter uptake	IDA IDA: Inferred from direct assay	7791878	GOA
involved in neurotransmitter uptake	IMP IMP: Inferred from mutant phenotype	7791878	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC1A6 Protein Structure

SDF

0
100
200
300
400
500
564 a.a.

Protein Preferred Names	Protein Names
excitatory amino acid transporter 4	sodium-dependent glutamate/aspartate transporter

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Episodic Ataxia, Type 6	Episodic Ataxia Type 6 EA6 Episodic Ataxia 6 Ea-6 Ataxia, Episodic, Type 6
Dicarboxylic Aminoaciduria	Glutamate-Aspartate Transport Defect Dicarboxylicaminoaciduria DCBXA Renal Aminoacidurias
Spinocerebellar Ataxia, Autosomal Recessive 8	Arca1 Autosomal Recessive Cerebellar Ataxia Type 1 SCAR8 Autosomal Recessive Spinocerebellar Ataxia 8 Autosomal Recessive Ataxia, Beauce Type Recessive Ataxia Of Beauce Syne1-Related Autosomal Recessive Cerebellar Ataxia Ataxia, Recessive, Of Beauce Cerebellar Ataxia, Autosomal Recessive, Type 1 Spinocerebellar Ataxia Autosomal Recessive 8 Autosomal Recessive Ataxia Beauce Type Spinocerebellar Ataxia, Autosomal Recessive, 8 Ataxia Recessive Of Beauce Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia Type 30 SCA30 Cerebellar Ataxia Early-Onset Nonprogressive Spinocerebellar Ataxia 29 Acv Aplasia Of Cerebellar Vermis Cerebellar Vermis Aplasia Congenital Nonprogressive Spinocerebellar Ataxia Sca29 Spinocerebellar Ataxia Type 29
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13057	SLC1A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC1A6	VGNC	VGNC:46266
Rattus norvegicus	SLC1A6	RGD	RGD:620340
Mus musculus	SLC1A6	MGD	MGI:1096331
Bos taurus	SLC1A6	VGNC	VGNC:52881
Felis catus	SLC1A6	VGNC	VGNC:65234
Others	SLC1A6	NCBI