SLC1A7 - solute carrier family 1 member 7 Gene

Also Known as AAAT; EAAT5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6512

About SLC1A7

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,087,183-53,142,638 (from NCBI)

This gene has 7 transcripts (splice variants), 275 orthologues and 6 paralogues. Broad expression in gall bladder (RPKM 2.6), small intestine (RPKM 2.2) and 17 other tissues.

Summary

Predicted to enable anion transmembrane transporter activity. Involved in neurotransmitter reuptake. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse. Predicted to be integral component of postsynaptic membrane and integral component of presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC1A7 Products (4)

mRNA Protein Name
NM_001287595.2 NP_001274524.1 excitatory amino acid transporter 5 isoform 1
NM_001287596.2 NP_001274525.1 excitatory amino acid transporter 5 isoform 2
NM_001287597.2 NP_001274526.1 excitatory amino acid transporter 5 isoform 3
NM_006671.6 NP_006662.3 excitatory amino acid transporter 5 isoform 4
Molecular Function GO Annotation Evidence References Source
enables glutamate:sodium symporter activity IDA
IDA: Inferred from direct assay
9108121 GOA
Biological Process GO Annotation Evidence References Source
involved in neurotransmitter uptake IDA
IDA: Inferred from direct assay
9108121 GOA
involved in neurotransmitter uptake IMP
IMP: Inferred from mutant phenotype
9108121 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

SLC1A7 Protein Structure

SDF

SDF: Sodium:dicarboxylate symporter family (20 - 475)

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

excitatory amino acid transporter 5

  • excitatory amino acid transporter 5 (retinal glutamate transporter)

Related Diseases

Diseases Alias
Hartnup Disorder
  • Hartnup Disease

  • HND

  • Neutral 1 Amino Acid Transport Defect

  • Neutral Amino Acid Transport Defect

  • Deficiency Of Tryptophan Oxygenase

  • Hartnup'S Disease

  • Aminoaciduria, Hartnup Type

  • Disorder Of Neutral Amino Acid Transport

Dicarboxylic Aminoaciduria
  • Glutamate-Aspartate Transport Defect

  • Dicarboxylicaminoaciduria

  • DCBXA

  • Renal Aminoacidurias

Iminoglycinuria
  • Iminoglycinuria, Digenic

  • IG

Lysinuric Protein Intolerance
  • LPI

  • Dibasic Amino Aciduria Ii

  • Hyperdibasic Aminoaciduria

  • Dibasic Aminoaciduria 2

  • Dibasicamino Aciduria Ii

  • Congenital Lysinuria

  • Lpi - Lysinuric Protein Intolerance

Cystinuria
  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease

Episodic Ataxia, Type 6
  • Episodic Ataxia Type 6

  • EA6

  • Episodic Ataxia 6

  • Ea-6

  • Ataxia, Episodic, Type 6

Late Congenital Syphilis
  • Juvenile Neurosyphilis

  • Neurosyphilis, Juvenile

Hypotonia-Cystinuria Syndrome
  • Cystinuria With Mitochondrial Disease

  • 2p21 Microdeletion Syndrome

  • HCS

  • Homozygous 2p16 Deletion Syndrome, Formerly

  • 2p21 Deletion Syndrome

  • Del(2)(P21)

  • Monosomy 2p21

  • Atypical Hypotonia-Cystinuria Syndrome

  • Atypical Hcs

Allan-Herndon-Dudley Syndrome
  • AHDS

  • Allan-Herndon Syndrome

  • Monocarboxylate Transporter 8 Deficiency

  • MCT8 DEFICIENCY

  • Mental Retardation, X-Linked, With Hypotonia

  • Triiodothyronine Resistance

  • T3 Resistance

  • Mental Retardation And Muscular Atrophy

  • Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

  • Intellectual Disability And Muscular Atrophy

  • Monocarboxylate Transporter-8 Deficiency

  • T3 Resisitence

  • Triiodothyronine Resistence

  • X-Linked Intellectual Disability With Hypotonia

  • Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

  • Monocarboxylate Transporter 8 Deficiency

  • X-Linked Intellectual Disability-Hypotonia Syndrome

Ureteral Disease
  • Ureteral Diseases

  • Ureteral Disorders

  • Disorder Of Ureter

Persistent Fetal Circulation Syndrome
  • Persistent Fetal Circulation

  • Fetal Circulation

  • Persistent Pulmonary Hypertension Of The Newborn

  • Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins

  • Persistent Foetal Circulation

  • Persistent Foetal Circulation Syndrome

  • Pfc - [Persistent Fetal Circulation] Syndrome

  • Pphn - [Persistent Pulmonary Hypertension Of The Newborn]

  • Newborn Pulmonary Hypertension

  • Primary Pulmonary Hypertension Of Newborn

Amino Acid Metabolic Disorder
  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders

Placental Choriocarcinoma
  • Choriocarcinoma Of The Placenta

Early Congenital Syphilis
Maple Syrup Urine Disease
  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome

Hyperekplexia
  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

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
Felis catus SLC1A7 VGNC VGNC:65235
Rattus norvegicus SLC1A7 RGD RGD:1311928
Macaca mulatta SLC1A7 VGNC VGNC:77414
Canis familiaris SLC1A7 VGNC VGNC:46267
Bos taurus SLC1A7 VGNC VGNC:34716
Mus musculus SLC1A7 MGD MGI:2444087