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renin receptor (renin/prorenin receptor, {ATPase, H+- transporting, lysosomal accessory protein 2}, vacuolar ATP synthase membrane sector-associated protein M8-9, V-ATPase M8.9 subunit, ATP6M8-9, N14F, ER-localized type 1 transmembrane adaptor, embryonic liver differentiation factor 10, ATP6AP2, ATP6IP2, CAPER, ELDF10, HT028, MSTP009, PSEC0072)
Function:
1) renin & prorenin cellular receptor
2) renin-dependent cellular responses
- activates ERK1 & ERK2
3) increases catalytic efficiency of renin in angiotensinogen conversion to angiotensin 1
4) renin-angiotensin system
5) interacts with renin & vacuolar proton-ATPase
6) phosphorylated
Compartment: membrane
Expression:
- expressed in brain, heart, placenta, liver, kidney, pancreas > lung, skeletal muscles
- in kidney cortex restricted to the mesangium of glomeruli
- in coronary arteries & renal artery, expressed in subendothelium, associated with smooth muscles
Pathology:
- defects in ATP6AP2 are a cause of X-linked mental retardation with epilepsy
- a silent mutation, exon skipping occurs
Related
prorenin
renin; angiotensinogenase (REN)
X-linked mental retardation with epilepsy (MRXE)
General
cell surface receptor
phosphoprotein
Properties
SIZE: MW = 39 kD
entity length = 350 aa
COMPARTMENT: plasma membrane
MOTIF: signal sequence {1-16}
ligand-binding site
phosphorylation site
transmembrane domain {303-323}
Database Correlations
OMIM correlations
MORBIDMAP 300556
UniProt O75787
Pfam PF07850
Kegg hsa:1015
References
- UniProt :accession O75787
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP6AP2