ATP6AP2

ATP6AP2 ;
ATP6IP2 ;
CAPER ;
ELDF10 ;
HT028 ;
MSTP009 ;
PSEC0072 ;
Renin receptor ;
ATPase H ;
+ ;
-transporting lysosomal accessory protein 2 ;
ATPase H ;
+ ;
-transporting lysosomal-interacting protein 2 ;
ER-localized type I transmembrane adaptor ;
Embryoni

disease:Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE) [MIM:300423]. MRXE is a syndromic mental retardation. Patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.,function:Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).,PTM:Phosphorylated.,subunit:Interacts with renin and the vacuolar proton-ATPase.,tissue specificity:Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncitiotrophoblast cells in the mature fetal placenta.,

regulation of cytokine production, positive regulation of cytokine production, regulation of systemic arterial blood pressure by hormone, regulation of systemic arterial blood pressure by circulatory renin-angiotensin, regulation of angiotensin levels in blood, angiotensin maturation, circulatory system process, regulation of systemic arterial blood pressure mediated by a chemical signal, regulation of systemic arterial blood pressure, regulation of systemic arterial blood pressure by renin-angiotensin, proteolysis, blood circulation, regulation of blood pressure, regulation of protein kinase cascade, regulation of hormone levels, protein processing, peptide hormone processing, regulation of transforming growth factor-beta1 production, positive regulation of transforming growth factor-beta1 production,hormone metabolic process, regulation of MAPKKK cascade, endocrine process, positive regulation of multicellular organismal process, protein maturation, protein maturation by peptide bond cleavage, regulation of angiotensin metabolic process,

Endoplasmic reticulum membrane ; Single-pass type I membrane protein . Lysosome membrane ; Single-pass type I membrane protein . Cytoplasmic vesicle, autophagosome membrane ; Single-pass type I membrane protein . Cell projection, dendritic spine membrane ; Single-pass type I membrane protein . Cell projection, axon . Endosome membrane ; Single-pass type I membrane protein . Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Single-pass type I membrane protein . Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type I membrane protein .

Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta.