Primary Identifier | IPR046756 | Type | Domain |
Short Name | VAS1/VOA1_TM |
description | This entry represents the transmembrane domain from ER/Golgi membrane proteins including V-type proton ATPase subunit S1 V0 complex accessory subunit Ac45 (VAS1, also known as V0 complex accessory subunit Ac45, ATP6AP1) from animals and the yeast homologue V0 assembly protein 1 (VOA1) which are essential for V0 ATPase assembly, stability and function [, ]. In humans, mutations of ATP6AP1 cause immunodeficiency with hypogammaglobulinemia, hepatopathy and neurocognitive abnormalities []. This entry also includes ER membrane BIG1 proteins from yeast, involved in cell wall biogenesis. |