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Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant hypermethylation and decreased expression. The i(12p)-positive cells displayed global hypomethylation of gene-poor regions on 12p, a footprint previously associated with constitutional and acquired gains of whole chromosomes as well as with X-chromosome inactivation in females
RILP regulates vacuolar ATPase through interaction with the V1G1 subunit
genome-wide association study in population in China: Data suggest 4 SNPs upstream of ATP6V1G1 (rs10817638, rs7851259, rs10982287, rs4979427) are associated (in bivariate manner) with age at menarche and bone density. [includes META-ANALYSIS]
RILP regulates the activity of the V-ATPase through its interaction with V1G1.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized.
ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J
, V-ATPase 13 kDa subunit 1
, V-ATPase subunit G 1
, V-type proton ATPase subunit G 1
, vacuolar ATP synthase subunit M16
, vacuolar H(+)-ATPase subunit G 1
, vacuolar proton pump subunit G 1
, vacuolar proton pump subunit M16
, ATPase, H+ transporting, V1 subunit G
, ATPase, H+ transporting, lysosomal (vacuolar proton pump)
, ATPase, H+ transporting, lysosomal 13kD, V1 subunit G
, lysosomal 13kDa
, vacuolar H+ ATPase G1