Function
Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system. 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, may also play a role in the renin-angiotensin system (RAS).
Biological Context
Subcellular Location: 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)
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 syncytiotrophoblast cells in the mature fetal placenta
Disease Association: Intellectual developmental disorder, X-linked, syndromic, Hedera type (MRXSH) : A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy. [The disease is caused by variants affecting the gene represented in this entry] | Parkinsonism with spasticity, X-linked (XPDS) : A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. [The disease is caused by variants affecting the gene represented in this entry] | Congenital disorder of glycosylation 2R (CDG2R) : A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. [The disease is caused by variants affecting the gene represented in this entry] | [Defects in ATP6AP2 may be involved in a glycosylation disorder with autophagic defects characterized by serum protein hypoglycosylation, immunodeficiency, liver disease, psychomotor impairment, and cutis laxa]
Product Specifications
Recombinant Human Renin receptor (ATP6AP2) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 17-350aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 53.5kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
