Primarily deleted gene | Mutated gene | Function | aa change | aa position | PFAM Domain (aa) | Motif (ELM prediction) | Putative connection with deleted gene |
---|---|---|---|---|---|---|---|
COG7 | PMR1 | Ion transporting ATPase | F → C | 926 | PF00689 P-type ATPase, transmembrane domain (762–934) |  | Required for Ca2+ and Mn2+ transport into Golgi |
TRX2 | Cytoplasmic thioredoxin | M → V | 40 | PF00085 Thioredoxin domain (10–100) |  | Required for ER vesicle fusion with the Golgi | |
NUP133 | ACC1 | Regulates histone acetylation; required for synthesis of long-chain fatty acids that were proposed to stabilize the NPC [41] | H → R | 2068 | PF01039 Acetyl-CoA carboxylase (1574–2130) |  | Nup133 also plays a role in transcription regulation and chromatin silencing |
BRE1 | Required for methylation of selected histones [42] | L → S | 599 |  |  | ||
RSC1 | Regulates nucleosome positioning and transcription regulation [43] | A → V | 98 | PF00439 Bromodomain (31–98) |  | ||
SWI1 | Regulates transcription by remodeling chromatin [44] | T → N | 15 |  | GSK3 phosphorylation recognition site | ||
CEX1 | Component of nuclear tRNA export pathway [48] | A → T | 468 |  |  | Associates with NPCs by interacting with Nup116p |