1. Gene
  2. FXYD4 - FXYD domain containing ion transport regulator 4 Gene

FXYD4 - FXYD domain containing ion transport regulator 4 Gene

中文名称:含 FXYD 域离子传输调节因子 4

种属: Homo sapiens

同用名: CHIF

基因 ID: 53828 | 基因类型: protein coding

关于 FXYD4

Cytogenetic location: 10q11.21 Genomic coordinates (GRCh38): 10:43,371,636-43,376,335 (from NCBI)

This gene has 4 transcripts (splice variants), 79 orthologues and 6 paralogues. Restricted expression toward kidney (RPKM 55.0).

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。 FXYD4 最初因通道诱导因子而命名为 CHIF,已被证明可以调节 Na,K-ATPase 的特性,FXYD2 (也称为 Na,K-ATPase 的伽马亚基) 和 FXYD7 也是如此。已经为 FXYD4 和两个家族成员 (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。已发现编码相同蛋白质的可变剪接转录变体。[RefSeq 提供,2010 年 5 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. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]

FXYD4 基因产物(2)

mRNA Protein Name
NM_001184963.1 NP_001171892.1 FXYD domain-containing ion transport regulator 4 precursor
NM_173160.3 NP_775183.1 FXYD domain-containing ion transport regulator 4 precursor

FXYD4 蛋白结构

ATP1G1_PLM_MAT8

ATP1G1_PLM_MAT8: ATP1G1/PLM/MAT8 family (26 - 72)

  • 0
  • 89 a.a.
蛋白主名 其他名称

FXYD domain-containing ion transport regulator 4

channel-inducing factor

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 33

DFNB33

Autosomal Recessive Nonsyndromic Deafness 33

Autosomal Recessive Deafness 33

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
Macaca mulatta FXYD4 VGNC VGNC:106051
Canis familiaris FXYD4 VGNC VGNC:41022
Rattus norvegicus FXYD4 RGD RGD:70998
Mus musculus FXYD4 MGD MGI:1889005
Bos taurus FXYD4 VGNC VGNC:106749