1. Gene
  2. ATP1B4 - ATPase Na+/K+ transporting family member beta 4 Gene

ATP1B4 - ATPase Na+/K+ transporting family member beta 4 Gene

中文名称:ATPase Na+/K+ 转运家族成员 beta 4

种属: Homo sapiens

基因 ID: 23439 | 基因类型: protein coding

关于 ATP1B4

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:120,362,089-120,383,237 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 4 paralogues. Biased expression in prostate (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue.

功能概要

该基因已在迄今为止测序的所有脊椎动物基因组中发现。然而,与其他物种相比,该基因在胎盘哺乳动物中的功能发生了变化。具体而言,在鱼类、鸟类和两栖动物物种中,该基因编码 Na,K-ATP 酶的质膜结合 β 亚基。在胎盘哺乳动物中,编码的蛋白质与核转录共调节因子 SKIP 相互作用,可能参与 TGF-β 信号转导的调节。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2010 年 3 月]

This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

ATP1B4 基因产物(2)

mRNA Protein Name
NM_001142447.3 NP_001135919.1 protein ATP1B4 isoform A
NM_012069.5 NP_036201.1 protein ATP1B4 isoform B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
17592128 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in inorganic cation transmembrane transport IDA
IDA: 通过直接分析推断
17592128 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
17592128 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear inner membrane IDA
IDA: 通过直接分析推断
17592128 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

ATP1B4 蛋白结构

Na_K-ATPase

Na_K-ATPase: Sodium / potassium ATPase beta chain (84 - 351)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
蛋白主名 其他名称

protein ATP1B4

ATPase, Na+/K+ transporting, beta 4 polypeptide

关联疾病

疾病名称 别名
Hyperalphalipoproteinemia 1

Hyperalphalipoproteinemia

HALP1

Cetp Deficiency

Cholesterol-Ester Transfer Protein Deficiency

Familial Hyperalphalipoproteinemia

Cholesteryl Ester Transfer Protein Deficiency

Cept Deficiency

Cholesterol Ester Transfer Protein Deficiency

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

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 ATP1B4 VGNC VGNC:70177
Bos taurus ATP1B4 VGNC VGNC:26288
Rattus norvegicus ATP1B4 RGD RGD:620994
Canis familiaris ATP1B4 VGNC VGNC:38251
Mus musculus ATP1B4 MGD MGI:1915071