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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23439

About 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.

Summary

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 Products (2)

mRNA Protein Name
NM_001142447.3 NP_001135919.1 protein ATP1B4 isoform A
NM_012069.5 NP_036201.1 protein ATP1B4 isoform B

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17592128 GOA
Biological Process GO Annotation Evidence References Source
NOT involved in inorganic cation transmembrane transport IDA
IDA: Inferred from direct assay
17592128 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17592128 GOA
Cellular Component GO Annotation Evidence References Source
located in nuclear inner membrane IDA
IDA: Inferred from direct assay
17592128 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP1B4 Protein Structure

Na_K-ATPase

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

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
Protein Preferred Names Protein Names

protein ATP1B4

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

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01189 ATP1B4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others ATP1B4 NCBI