1. Gene
  2. SLC1A1 - solute carrier family 1 member 1 Gene

SLC1A1 - solute carrier family 1 member 1 Gene

中文名称:溶质载体家族 1 成员 1

种属: Homo sapiens

同用名: DCBXA; EAAC1; EAAT3; SCZD18; hEAAC1

基因 ID: 6505 | 基因类型: protein coding

关于 SLC1A1

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:4,490,468-4,587,469 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues, 6 paralogues and is associated with 4 phenotypes. Biased expression in small intestine (RPKM 11.7), kidney (RPKM 8.4) and 12 other tissues.

功能概要

该基因编码高亲和力谷氨酸转运蛋白的一个成员,该转运蛋白在谷氨酸跨质膜转运中起着重要作用。在大脑中,这些转运蛋白对于终止神经递质谷氨酸的突触后作用以及将细胞外谷氨酸浓度维持在神经毒性水平以下至关重要。该转运蛋白还转运天冬氨酸,该基因的突变被认为会导致二羧酸尿症,也称为谷氨酸-天冬氨酸转运缺陷。[RefSeq 提供,2010 年 3 月]

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

SLC1A1 基因产物(1)

mRNA Protein Name
NM_004170.6 NP_004161.4 excitatory amino acid transporter 3

SLC1A1 蛋白结构

SDF

SDF: Sodium:dicarboxylate symporter family (22 - 465)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 524 a.a.
蛋白主名 其他名称

excitatory amino acid transporter 3

excitatory amino acid carrier 1

关联疾病

疾病名称 别名
Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect

Dicarboxylicaminoaciduria

DCBXA

Renal Aminoacidurias

Schizophrenia 18

SCZD18

Schizophrenia 18 With Or Without An Affective Disorder

Schizophrenia Susceptibility 18

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia, Type 18

Hot Water Reflex Epilepsy
Aminoaciduria
Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Hemiplegia

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Hepatic Encephalopathy

Encephalopathy, Hepatic

Portal-Systemic Encephalopathy

Hepatoencephalopathy

He - [Hepatic Encephalopathy]

Hepatic Encephalopathy Nos

Hepatic Encephalopathy, Stage Unspecified

Hepatic Coma

Hepatocerebral Encephalopathy

Hepatocerebral Intoxication

Episodic Ataxia, Type 6

Episodic Ataxia Type 6

EA6

Episodic Ataxia 6

Ea-6

Ataxia, Episodic, Type 6

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Trichotillomania

TTM

Hair-Pulling Syndrome

Compulsive Hair Plucking

Hair Pulling Disorder

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]

Obsessive-Compulsive Personality Disorder

Anankastic Personality Disorder

Obsessive-Compulsive Personality

Compulsive Personality Disorder

Ocpd

Obsessional Personality Disorder

Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Hypochondriasis

Hypochondriacal Disorder

Hypochondria

Hypochondriacal Neurosis

Illness Anxiety Disorder

Health Anxiety Disorder

Hypochondriacal Reaction

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

Tic Disorder

Tics

Behavioral Tic

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

Retinal Degeneration

Degeneration Of Retina

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

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

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC1A1 VGNC VGNC:77409
Felis catus SLC1A1 VGNC VGNC:102980
Bos taurus SLC1A1 VGNC VGNC:34711
Rattus norvegicus SLC1A1 RGD RGD:3696
Canis familiaris SLC1A1 VGNC VGNC:46261
Mus musculus SLC1A1 MGD MGI:105083