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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables D-aspartate transmembrane transporter activity	IDA IDA: 通过直接分析推断	7914198	GOA
enables L-aspartate transmembrane transporter activity	IDA IDA: 通过直接分析推断	7914198	GOA
enables L-glutamate transmembrane transporter activity	IDA IDA: 通过直接分析推断	7521911	GOA
enables chloride transmembrane transporter activity	IMP IMP: 通过突变表型推断	8857541	GOA
enables cysteine transmembrane transporter activity	IDA IDA: 通过直接分析推断	21123949	GOA
enables glutamate:sodium symporter activity	IDA IDA: 通过直接分析推断	8857541	GOA
enables high-affinity L-glutamate transmembrane transporter activity	IDA IDA: 通过直接分析推断	8857541	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in D-aspartate import across plasma membrane	IDA IDA: 通过直接分析推断	7521911	GOA
involved in D-aspartate import across plasma membrane	IMP IMP: 通过突变表型推断	8857541	GOA
involved in D-aspartate transmembrane transport	IDA IDA: 通过直接分析推断	7914198	GOA
involved in L-aspartate import across plasma membrane	IDA IDA: 通过直接分析推断	7521911	GOA
involved in L-aspartate import across plasma membrane	IMP IMP: 通过突变表型推断	8857541	GOA
involved in L-aspartate transmembrane transport	IDA IDA: 通过直接分析推断	7914198	GOA
involved in L-glutamate import	IDA IDA: 通过直接分析推断	7521911	GOA
involved in L-glutamate import across plasma membrane	IDA IDA: 通过直接分析推断	26690923	GOA
involved in L-glutamate import across plasma membrane	IMP IMP: 通过突变表型推断	8857541	GOA
involved in L-glutamate transmembrane transport	IDA IDA: 通过直接分析推断	7914198	GOA
acts upstream of or within cellular response to organic cyclic compound	IDA IDA: 通过直接分析推断	12562531	GOA
involved in chloride transmembrane transport	IMP IMP: 通过突变表型推断	8857541	GOA
involved in cysteine transport	IDA IDA: 通过直接分析推断	21123949	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	21123949	GOA
located in membrane	IDA IDA: 通过直接分析推断	7914198	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	7914198	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	21123949	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	8857541	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC1A1 蛋白结构

SDF

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

SLC1A1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	SLC1A1	P43005	LDLRAD1	Homo sapiens	Q5T700	Y2H Array	31515488
Intra	SLC1A1	P43005	SYNPR	Homo sapiens	Q8TBG9	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	SYNPR	Homo sapiens	Q8TBG9	Validated Y2H	32296183
Intra	SLC1A1	P43005	SYNPR	Homo sapiens	Q8TBG9	Y2H Array	32296183
Intra	SLC1A1	P43005	TMEM179B	Homo sapiens	Q7Z7N9	Validated Y2H	32296183
Intra	SLC1A1	P43005	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Array	32296183
Intra	SLC1A1	P43005	FXYD3	Homo sapiens	Q14802-3	Y2H Array	32296183
Intra	SLC1A1	P43005	FXYD3	Homo sapiens	Q14802-3	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	FXYD3	Homo sapiens	Q14802-3	Validated Y2H	32296183
Intra	SLC1A1	P43005	SLC35A1	Homo sapiens	P78382	Validated Y2H	32296183
Intra	SLC1A1	P43005	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	SLC1A1	P43005	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	SLC1A1	P43005	PAGE1	Homo sapiens	O75459	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	PAGE1	Homo sapiens	O75459	Y2H Array	32296183
Intra	SLC1A1	P43005	RNF5	Homo sapiens	Q99942	Y2H Array	32296183
Intra	SLC1A1	P43005	RNF5	Homo sapiens	Q99942	Validated Y2H	25416956
Intra	SLC1A1	P43005	RNF5	Homo sapiens	Q99942	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	RNF5	Homo sapiens	Q99942	Validated Y2H	32296183
Intra	SLC1A1	P43005	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	SLC1A1	P43005	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	SLC1A1	P43005	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13050	SLC1A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

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

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