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

SLC1A6 - solute carrier family 1 member 6 Gene

中文名称:溶质载体家族 1 成员 6

种属: Homo sapiens

同用名: EAAT4

基因 ID: 6511 | 基因类型: protein coding

关于 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.

功能概要

预计可实现高亲和力谷氨酸跨膜转运蛋白活性。参与神经递质摄取。位于中间丝细胞骨架和质膜。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-aspartate transmembrane transporter activity IDA
IDA: 通过直接分析推断
7791878 GOA
enables L-glutamate transmembrane transporter activity IDA
IDA: 通过直接分析推断
7791878 GOA
enables glutamate:sodium symporter activity IDA
IDA: 通过直接分析推断
7791878 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-aspartate import across plasma membrane IDA
IDA: 通过直接分析推断
7791878 GOA
involved in L-glutamate import across plasma membrane IDA
IDA: 通过直接分析推断
7791878 GOA
involved in neurotransmitter uptake IDA
IDA: 通过直接分析推断
7791878 GOA
involved in neurotransmitter uptake IMP
IMP: 通过突变表型推断
7791878 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

SLC1A6 蛋白结构

SDF

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 564 a.a.
蛋白主名 其他名称

excitatory amino acid transporter 4

sodium-dependent glutamate/aspartate transporter

关联疾病

疾病名称 别名
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

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
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