1. Gene
  2. SLC5A3 - solute carrier family 5 member 3 Gene

SLC5A3 - solute carrier family 5 member 3 Gene

中文名称:溶质载体家族 5 成员 3

种属: Homo sapiens

同用名: BCW2; SMIT; SMIT1; SMIT2

基因 ID: 6526 | 基因类型: protein coding

关于 SLC5A3

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:34,073,578-34,106,260 (from NCBI)

This gene has 1 transcript (splice variant), 212 orthologues and 11 paralogues. Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues.

功能概要

启用钾通道调节剂活性和跨膜转运蛋白结合活性。预计参与肌醇代谢过程;单糖跨膜转运;和肌醇跨质膜输入。预计在几个过程的上游或内部起作用,包括周围神经系统发育;活性氧生物合成过程的正调控;和调节呼吸气体交换。位于质膜。细胞质核周区的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables Potassium Channel regulator activity and transmembrane transporter binding activity. Predicted to be involved in inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including peripheral nervous system development; positive regulation of Reactive Oxygen Species biosynthetic process; and regulation of respiratory gaseous exchange. Located in plasma membrane. Part of perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

SLC5A3 基因产物(1)

mRNA Protein Name
NM_006933.7 NP_008864.4 sodium/myo-inositol cotransporter
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables myo-inositol:sodium symporter activity IDA
IDA: 通过直接分析推断
24595108 GOA
enables potassium channel regulator activity IDA
IDA: 通过直接分析推断
28793216 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24595108 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
28793216 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
25756525 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
25756525 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

SLC5A3 蛋白结构

SSF

SSF: Sodium:solute symporter family (39 - 477)

  • 0
  • 200
  • 400
  • 600
  • 718 a.a.
蛋白主名 其他名称

sodium/myo-inositol cotransporter

Na(+)/myo-inositol cotransporter

关联疾病

疾病名称 别名
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

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
Mus musculus SLC5A3 MGD MGI:1858226
Macaca mulatta SLC5A3 VGNC VGNC:77611
Rattus norvegicus SLC5A3 RGD RGD:621530