3lbs

Structural highlights

Disease

RENR_HUMAN X-linked intellectual disability, Hedera type;X-linked parkinsonism-spasticity syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. 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.^[1]

Function

MALE_ECOLI Involved in the high-affinity maltose membrane transport system MalEFGK. Initial receptor for the active transport of and chemotaxis toward maltooligosaccharides.RENR_HUMAN 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 (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). 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) (PubMed:12045255). Through its function in V-type ATPase (v-ATPase) assembly and acidification of the lysosome it regulates protein degradation and may control different signaling pathways important for proper brain development, synapse morphology and synaptic transmission (By similarity).[UniProtKB:Q9CYN9]^{[2] [3] [4] [5]}

References

1. ↑ Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C. N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. PMID:25944712 doi:10.1002/pmic.201400617
2. ↑ Nguyen G, Delarue F, Burckle C, Bouzhir L, Giller T, Sraer JD. Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. J Clin Invest. 2002 Jun;109(11):1417-27. PMID:12045255 doi:10.1172/JCI14276
3. ↑ Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med. 2017 Dec 4;214(12):3707-3729. PMID:29127204 doi:10.1084/jem.20170453
4. ↑ Jung YS, Jun S, Kim MJ, Lee SH, Suh HN, Lien EM, Jung HY, Lee S, Zhang J, Yang JI, Ji H, Wu JY, Wang W, Miller RK, Chen J, McCrea PD, Kopetz S, Park JI. TMEM9 promotes intestinal tumorigenesis through vacuolar-ATPase-activated Wnt/β-catenin signalling. Nat Cell Biol. 2018 Dec;20(12):1421-1433. PMID:30374053 doi:10.1038/s41556-018-0219-8
5. ↑ Su W, Huang S, Zhu H, Zhang B, Wu X. Interaction between PHB2 and Enterovirus A71 VP1 Induces Autophagy and Affects EV-A71 Infection. Viruses. 2020 Apr 8;12(4):414. PMID:32276428 doi:10.3390/v12040414
6. ↑ Zhang Y, Gao X, Michael Garavito R. Structural analysis of the intracellular domain of (pro)renin receptor fused to maltose-binding protein. Biochem Biophys Res Commun. 2011 Mar 21. PMID:21420935 doi:10.1016/j.bbrc.2011.03.074