| Primary Identifier | IPR046755 | Type | Domain |
| Short Name | VAS1_LD |
| description | This entry represents the luminal domain (LD) found in eukaryotic V-type proton ATPase subunit S1 (VAS1), involved in V-ATPase V0 assembly, also known as Ac45 subunit (ATP6AP1) [, ]. This domain folds as a globular β-prism structure which is structurally similar to LAMP1-3, thus, the LD domain of Ac45 is an evolutionarily conserved member of the LAMP family []. Ac45 is an ER membrane protein that guides the V-type ATPase into specialised subcellular compartments []and is critical for Vo complex assembly as it connects to multiple Vo subunitsand phospholipids in the c-ring []. Missense mutations in the X-linked ATP6AP1 gene cause immunodeficiency in males that leads to recurrent bacterial infection, hepatopathy, cognitive impairment, and abnormal protein glycosylation []. |
