• Gene id: 481

Gene Summary

• Gene Symbol: ATP1B1   Gene   UCSC   Ensembl
• Aliases: ATP1B
• Gene name: ATPase Na+/K+ transporting subunit beta 1
• Alternate names: sodium/potassium-transporting ATPase subunit beta-1, ATPase, Na+/K+ transporting, beta 1 polypeptide, Beta 1-subunit of Na(+),K(+)-ATPase, Na, K-ATPase beta-1 polypeptide, adenosinetriphosphatase, sodium pump subunit beta-1, sodium-potassium ATPase subunit beta,
• Gene location: 1q24.2 (169106689: 169132718)     Exons: 6     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemica
• OMIM: 605016

SNPs

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

Protein Summary

• Protein general information: P05026  
  • Name: Sodium/potassium transporting ATPase subunit beta 1 (Sodium/potassium dependent ATPase subunit beta 1)
  • Length: 303  
  • Mass: 35061
  • Tissue specificity: Found in most tissues.
• Sequence:

  MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSWFKILLFYVIFYGCLAGIFIGTIQVMLLTISEFKPTYQDRVAPP
  GLTQIPQIQKTEISFRPNDPKSYEAYVLNIVRFLEKYKDSAQRDDMIFEDCGDVPSEPKERGDFNHERGERKVCR
  FKLEWLGNCSGLNDETYGYKEGKPCIIIKLNRVLGFKPKPPKNESLETYPVMKYNPNVLPVQCTGKRDEDKDKVG
  NVEYFGLGNSPGFPLQYYPYYGKLLQPKYLQPLLAVQFTNLTMDTEIRIECKAYGENIGYSEKDRFQGRFDVKIE
  VKS

• Structural information:
  • Interpro: IPR000402  IPR015565  IPR038702  
  • Prosite: PS00390 PS00391
  • STRING: ENSP00000356790
• Other Databases: GeneCards:  ATP1B1  Malacards:  ATP1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0036126	sperm flagellum	IDA	cellular component
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	contributes to
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	contributes to
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	contributes to
GO:0051117	ATPase binding	IPI	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	contributes to
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	contributes to
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	contributes to
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0098655	cation transmembrane transport	IGI	biological process
GO:0035725	sodium ion transmembrane transport	IGI	biological process
GO:0035725	sodium ion transmembrane transport	IGI	biological process
GO:0030315	T-tubule	IGI	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IPI	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005886	plasma membrane	IGI	cellular component
GO:0031090	organelle membrane	IGI	cellular component
GO:0071805	potassium ion transmembrane transport	IGI	biological process
GO:0071805	potassium ion transmembrane transport	IGI	biological process
GO:0006883	cellular sodium ion homeostasis	IBA	biological process
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:0001671	ATPase activator activity	IBA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IBA	contributes to
GO:0005890	sodium:potassium-exchanging ATPase complex	IBA	cellular component
GO:0030007	cellular potassium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030001	metal ion transport	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:1903281	positive regulation of calcium:sodium antiporter activity	IEA	biological process
GO:1903169	regulation of calcium ion transmembrane transport	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0055119	relaxation of cardiac muscle	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	contributes to
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	contributes to
GO:0001671	ATPase activator activity	IDA	molecular function
GO:0031402	sodium ion binding	IDA	contributes to
GO:0030955	potassium ion binding	IDA	contributes to
GO:0016887	ATPase activity	IDA	contributes to
GO:0005524	ATP binding	IDA	contributes to
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	contributes to
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	contributes to
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0008144	drug binding	IPI	contributes to
GO:0051117	ATPase binding	IPI	molecular function
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	IDA	biological process
GO:1901018	positive regulation of potassium ion transmembrane transporter activity	IDA	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IC	biological process
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:1903278	positive regulation of sodium ion export across plasma membrane	IDA	biological process
GO:1903288	positive regulation of potassium ion import across plasma membrane	IDA	biological process
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	IDA	biological process
GO:0046034	ATP metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0086009	membrane repolarization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0044861	protein transport into plasma membrane raft	TAS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0050821	protein stabilization	ISS	biological process
GO:1903281	positive regulation of calcium:sodium antiporter activity	ISS	biological process
GO:0036376	sodium ion export across plasma membrane	ISS	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:0055119	relaxation of cardiac muscle	ISS	biological process
GO:0060048	cardiac muscle contraction	ISS	biological process
GO:0042383	sarcolemma	ISS	cellular component
GO:0010468	regulation of gene expression	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0023026	MHC class II protein complex binding	HDA	molecular function
GO:1903561	extracellular vesicle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04911	Insulin secretion
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04978	Mineral absorption
hsa04976	Bile secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R