FXYD5 - FXYD domain containing ion transport regulator 5 Gene

中文名称：含 FXYD 域离子传输调节因子 5

种属: Homo sapiens

同用名: RIC; IWU1; KCT1; OIT2; DYSAD; HSPC113; PRO6241

关于 FXYD5

功能概要

该基因编码一个小膜蛋白家族的成员，该家族共享一个 35 个氨基酸的特征序列域，从序列 PFXYD 开始，包含 7 个不变氨基酸和 6 个高度保守的氨基酸。该家族批准的人类基因命名法是含有离子传输调节剂的 FXYD 结构域。小鼠 FXYD5 被称为 RIC (与离子通道相关) 。 FXYD2，也称为 Na,K-ATPase 的 γ 亚基，调节该酶的特性。 FXYD1 (phospholemman) 、FXYD2 (gamma) 、FXYD3 (MAT-8) 、FXYD4 (CHIF) 和 FXYD5 (RIC) 已被证明可在实验表达系统中诱导通道活性。已经为两个家族成员 (FXYD1 和 FXYD2) 建立了跨膜拓扑结构，N 端位于细胞外，C 端位于膜的细胞质侧。该基因产物 FXYD5 是一种糖蛋白，可上调趋化因子的产生，并通过下调 E-钙粘蛋白的能力参与细胞粘附的减少。它还会促进转移，并与多种癌症有关。可变剪接导致多个转录本变体。 [RefSeq 由 Kathleen J. Sweadner 博士整理，sweadner@helix.mgh.harvard.edu.，2009 年 9 月]

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved Amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]