2. Gene
  3. SLC6A11 - solute carrier family 6 member 11 Gene

SLC6A11 - solute carrier family 6 member 11 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 6 成员 11

种属: Homo sapiens

同用名: GAT3; GAT4; GAT-3

基因 ID: 6538 | 基因类型: protein coding

关于 SLC6A11

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,816,228-10,940,714 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 19 paralogues. Biased expression in brain (RPKM 2.2), esophagus (RPKM 0.8) and 3 other tissues.

功能概要

由该基因编码的蛋白质是一种钠依赖性转运蛋白，可摄取 γ-氨基丁酸 (GABA) ，这是一种抑制性神经递质，可终止 GABA 神经传递。该基因的缺陷可能导致癫痫、行为问题或智力问题。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

SLC6A11 基因产物(2)

mRNA Protein Name
NM_001317406.3 NP_001304335.1 sodium- and chloride-dependent GABA transporter 3 isoform 2
NM_014229.3 NP_055044.1 sodium- and chloride-dependent GABA transporter 3 isoform 1
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 gamma-aminobutyric acid:sodium:chloride symporter activity IDA
IDA: 通过直接分析推断
7874447 GOA
enables monocarboxylic acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
29175673 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in monocarboxylic acid transport IDA
IDA: 通过直接分析推断
29175673 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

SLC6A11 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (50 - 575)

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

sodium- and chloride-dependent GABA transporter 3

GABA transporter 3

关联疾病

疾病名称 别名
Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1
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
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Iminoglycinuria

Iminoglycinuria, Digenic

IG
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13297 SLC6A11 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 SLC6A11 VGNC VGNC:77616
Rattus norvegicus SLC6A11 RGD RGD:628737
Felis catus SLC6A11 VGNC VGNC:65409
Canis familiaris SLC6A11 VGNC VGNC:46454
Mus musculus SLC6A11 MGD MGI:95630
Bos taurus SLC6A11 VGNC VGNC:34914
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