1. Gene
  2. FXYD7 - FXYD domain containing ion transport regulator 7 Gene

FXYD7 - FXYD domain containing ion transport regulator 7 Gene

中文名称:含 FXYD 结构域含离子输运调节因子 7

种属: Homo sapiens

基因 ID: 53822 | 基因类型: protein coding

关于 FXYD7

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,143,255-35,154,302 (from NCBI)

This gene has 4 transcripts (splice variants), 39 orthologues and 6 paralogues. Biased expression in brain (RPKM 25.1) and spleen (RPKM 0.7).

功能概要

该参考序列来源于多个重复的 EST,并通过相似的人类基因组序列进行验证。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。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。 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。该基因产物 FXYD7 是新颖的,尚未被表征为蛋白质。 [RefSeq 由 Kathleen J. Sweadner 博士整理,sweadner@helix.mgh.harvard.edu.,2000 年 12 月]

This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. 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. 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. 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. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]

FXYD7 基因产物(1)

mRNA Protein Name
NM_022006.2 NP_071289.1 FXYD domain-containing ion transport regulator 7
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

FXYD7 蛋白结构

ATP1G1_PLM_MAT8

ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (13 - 59)

  • 0
  • 80 a.a.
蛋白主名 其他名称

FXYD domain-containing ion transport regulator 7

FXYD7 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
种属内
FXYD7 P58549 SGTA Homo sapiens O43765
Validated Y2H
25416956
种属内
FXYD7 P58549 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
种属内
FXYD7 P58549 SGTA Homo sapiens O43765
Y2H Array
32296183
种属内
FXYD7 P58549 SGTA Homo sapiens O43765
Anti Tag CoIP
25416956
种属内
FXYD7 P58549 SGTA Homo sapiens O43765
MAPPIT
25416956
种属内
FXYD7 P58549 APPBP2 Homo sapiens Q92624
Y2H Array
32296183
种属内
FXYD7 P58549 APPBP2 Homo sapiens Q92624
Validated Y2H
32296183
种属内
FXYD7 P58549 APPBP2 Homo sapiens Q92624
Y2H Prey Pooling
32296183
种属内
FXYD7 P58549 APPBP2 Homo sapiens Q92624
Y2H Array
25416956
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
Hypomagnesemia 2, Renal

Renal Hypomagnesemia 2

HOMG2

Magnesium Wasting, Renal

Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

Magnesium Loss, Isolated Renal

Isolated Autosomal Dominant Hypomagnesemia

Isolated Renal Magnesium Wasting

Renal Hypomagnesemia Type 2

Hypomagnesemia 2

Dominant Renal Hypomagnesemia

Hypomagnesemia With Hypocalciuria

Isolated Renal Magnesium Loss

Renal Magnesium Wasting

Hypomagnesemia-2, Renal

Renal Hypomagnesemia, Dominant

Hypomagnesemia, Type 2, Renal

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
Rattus norvegicus FXYD7 RGD RGD:620830
Macaca mulatta FXYD7 VGNC VGNC:107106
Bos taurus FXYD7 VGNC VGNC:29159
Mus musculus FXYD7 MGD MGI:1889006