MGP Database

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MGP004146

UniProt Annotations

Entry Information
Gene NameATPase, H+ transporting, lysosomal accessory protein 2
Protein EntryRENR_HUMAN
UniProt IDO75787
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75787-1; Sequence=Displayed; Name=2; IsoId=O75787-2; Sequence=VSP_056910; Note=No experimental confirmation available.;
DiseaseMental retardation, X-linked, with epilepsy (MRXE) [MIM:300423]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. {ECO:0000269|PubMed:15746149}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseParkinsonism with spasticity, X-linked (XPDS) [MIM:300911]: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. {ECO:0000269|PubMed:23595882}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFunctions 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). {ECO:0000269|PubMed:12045255}.
PtmPhosphorylated. {ECO:0000269|PubMed:12045255}.
Sequence CautionSequence=AAH10395.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ13511.1; Type=Frameshift; Positions=155; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA76984.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Subcellular LocationMembrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
SubunitInteracts with renin and the vacuolar proton-ATPase. {ECO:0000269|PubMed:12045255}.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:12045255, ECO:0000269|PubMed:15746149}.
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