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FLASH GENE

Symbol

ATP1B1

contributors: mct - updated : 01-07-2014

HGNC name	ATPase, Na+/K+ transporting, beta 1 polypeptide
HGNC id	804

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly   parathyroid       highly Nervous brain       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

family of Na+/K+ and H+/K+ ATPases beta chain proteins, subfamily of Na+/K+ -ATPases

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	osmotic balance and cell volume stability
	non-catalytic component of the active enzyme, which catalyzes the hydrolysis of atp coupled with the exchange of na(+) and k(+) ions across the plasma membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	Na+, K+ pump

PATHWAY

metabolism

signaling

a component	complexing with ATP1A1 and maybe others
	three subunits, a large catalytic subunit (alpha), a smaller glycoprotein subunit (beta), and gamma

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	binding to ATP1A1
	through its interaction with ATP1B1, MLC1 is involved in the control of intracellular osmotic conditions and volume regulation in astrocytes, opening new perspectives for understanding the pathological mechanisms of MLC disease
	WFS1 may be necessary for the stability of ATP6V1A and ATP1B1, but does not protect ATP6V1A and ATP1B1 from proteasome-mediated degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to essential hypertension

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS