1. Gene
  2. SLC1A6 - solute carrier family 1 member 6 Gene

SLC1A6 - solute carrier family 1 member 6 Gene

Homo sapiens

Also known as EAAT4

Gene ID: 6511 | Gene type: protein coding

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

SLC1A6 Protein Structure

SDF

SDF: Sodium:dicarboxylate symporter family (59 - 521)

  • 0
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  • 200
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  • 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

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