1. Gene
  2. SLC1A3 - solute carrier family 1 member 3 Gene

SLC1A3 - solute carrier family 1 member 3 Gene

Homo sapiens

Also known as EA6; EAAT1; GLAST; GLAST1

Gene ID: 6507 | Gene type: protein coding

About SLC1A3

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:36,606,606-36,688,334 (from NCBI)

This gene has 60 transcripts (splice variants), 270 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 174.8) and fat (RPKM 10.9).

Summary

This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]

SLC1A3 Products(5)

mRNA Protein Name
NM_001166695.3 NP_001160167.1 excitatory amino acid transporter 1 isoform 2
NM_001166696.3 NP_001160168.1 excitatory amino acid transporter 1 isoform 3
NM_001289939.2 NP_001276868.1 excitatory amino acid transporter 1 isoform 4
NM_001289940.2 NP_001276869.1 excitatory amino acid transporter 1 isoform 5
NM_004172.5 NP_004163.3 excitatory amino acid transporter 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables L-glutamate transmembrane transporter activity IDA
IDA: Inferred from direct assay
7521911 GOA
enables glutamate:sodium symporter activity IDA
IDA: Inferred from direct assay
20477940 GOA
enables glutamate:sodium symporter activity IMP
IMP: Inferred from mutant phenotype
8123008 GOA
enables high-affinity L-glutamate transmembrane transporter activity IDA
IDA: Inferred from direct assay
26690923 GOA
enables high-affinity L-glutamate transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
8123008 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in D-aspartate import across plasma membrane IDA
IDA: Inferred from direct assay
7521911 GOA
involved in D-aspartate import across plasma membrane IMP
IMP: Inferred from mutant phenotype
8123008 GOA
involved in L-aspartate import across plasma membrane IDA
IDA: Inferred from direct assay
7521911 GOA
involved in L-aspartate import across plasma membrane IMP
IMP: Inferred from mutant phenotype
8123008 GOA
involved in L-glutamate import IDA
IDA: Inferred from direct assay
7521911 GOA
involved in L-glutamate import across plasma membrane IDA
IDA: Inferred from direct assay
26690923 GOA
involved in L-glutamate import across plasma membrane IMP
IMP: Inferred from mutant phenotype
8123008 GOA
involved in L-glutamate transmembrane transport IDA
IDA: Inferred from direct assay
26690923 GOA
involved in chloride transmembrane transport IDA
IDA: Inferred from direct assay
20477940 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
20477940 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
8123008 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

SLC1A3 Protein Structure

SDF

SDF: Sodium:dicarboxylate symporter family (50 - 497)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 542 a.a.
Protein Preferred Names Protein Names

excitatory amino acid transporter 1

GLAST-1

SLC1A3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SLC1A3 P43003 TMEM128 Homo sapiens Q5BJH2-2
Validated Y2H
32296183
Intra
SLC1A3 P43003 BTN2A2 Homo sapiens Q8WVV5
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Episodic Ataxia, Type 6

Episodic Ataxia Type 6

EA6

Episodic Ataxia 6

Ea-6

Ataxia, Episodic, Type 6

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

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Wernicke Encephalopathy

Wernicke'S Encephalopathy

Wernicke'S Disease

Encephalopathy, Wernicke'S

Wernicke-Korsakoff Syndrome

Encephalopathy Due To Vitamin B1 Deficiency

Wernicke Disease

Wernicke Syndrome

Hemiplegia

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Migraine, Familial Hemiplegic, 2

FHM2

Mhp2

Migraine, Familial Basilar

Familial Hemiplegic Migraine 2

Familial Hemiplegic Migraine-2

Familiar Basilar Migraine

Migraine, Hemiplegic, Familial, Type 2

Developmental And Epileptic Encephalopathy 35

DEE35

Epileptic Encephalopathy, Early Infantile, 35

Eiee35

Developmental And Epileptic Encephalopathy, 35

Early Infantile Epileptic Encephalopathy 35

Itpa-Related Encephalopathy

Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement

Martsolf-Like Syndrome

Neonatal Hypoxic And Ischemic Brain Injury

Perinatal Asphyxia

Hypoxic-Ischemic Encephalopathy

Perinatal Hypoxia

Hie

Hypoxic And Ischemic Brain Injury In The Newborn

Encephalopathy, Hypoxic Ischemic

Encephalopathies Hypoxic-Ischemic

Hypoxic Ischemic Encephalopathy

Hypoxic Ischaemic Brain Injury

Brain Hypoxia

Cerebral Hypoxia

Hypoxic Encephalopathy

Hypoxic Brain Damage

Hypoxic Brain Injury

Brainstem Hypoxia

Hypoxic Brainstem Damage

Chromosome 5p13 Duplication Syndrome

5p13 Microduplication Syndrome

Trisomy 5p13

Dup(5)(P13)

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect

Dicarboxylicaminoaciduria

DCBXA

Renal Aminoacidurias

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

Migraine, Familial Hemiplegic, 3

FHM3

Familial Hemiplegic Migraine 3

Mhp3

Migraine, Hemiplegic, Familial, Type 3

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Arthrogryposis, Distal, Type 4

Distal Arthrogryposis Type 4

DA4

Daiid

Arthrogryposis-Severe Scoliosis Syndrome

Distal Arthrogryposis Type Iid

Arthrogryposis With Severe Scoliosis

Arthrogryposis, Distal, Type Iid

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Episodic Ataxia, Type 1

Episodic Ataxia Type 1

Episodic Ataxia/Myokymia Syndrome

EA1

Episodic Ataxia With Myokymia

Eam

Ataxia, Episodic, With Myokymia

Aem

Paroxysmal Ataxia With Neuromyotonia, Hereditary

Myokymia With Periodic Ataxia

Episodic Ataxia 1

Aemk

Ea-1

Paroxysmal Ataxia With Neuromyotonia

Myokymia Isolated 1

MK1

Ataxia, Episodic, Type 1

Continuous Muscle Fiber Activity, Hereditary

Isaacs Syndrome

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Alexander Disease

Alexander'S Disease

ALXDRD

Alexanders Leukodystrophy

Axd

Demyelinogenic Leukodystrophy

Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia

Alx

Dysmyelinogenic Leukodystrophy

Fibrinoid Degeneration Of Astrocytes

Leukodystrophy With Rosenthal Fibers

Alexander Disease Type Ii

Axd Type Ii

Alexander Disease Type I

Axd Type I

Alexanders Disease

Alexander'S Leukodystrophy

Retinal Degeneration

Degeneration Of Retina

Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Mus musculus SLC1A3 MGD MGI:99917
Macaca mulatta SLC1A3 VGNC VGNC:77411
Rattus norvegicus SLC1A3 RGD RGD:3698
Canis familiaris SLC1A3 VGNC VGNC:46263
Felis catus SLC1A3 VGNC VGNC:65231
Bos taurus SLC1A3 VGNC VGNC:34713
Others SLC1A3 NCBI