Table 1.

Genetic backgrounds with NE evagination and herniations

Gene (Genetic perturbation)	Function	Phenotype	Organism	Ref.
NPC biogenesis/quality control
NUP170(repression) NUP157(deletion)	Inner ring scaffold nucleoporins	INM-evaginations	S. cerevisiae	[16]	INM-evagination
POM33 (deletion)	Transmembrane nucleoporin	INM-evaginations	S. cerevisiae	[17]
RTN1/YOP1 (double deletion)	Reticulon like protein (RTN1), DP1 like protein (YOP1)	INM-evaginations	S. cerevisiae	[19]
STH1 (ts allele)	RSC-Chromatin Remodeling Complex	INM-evaginations, expanded PNS/NE	S. cerevisiae	[20]
KAP95 (ts point mutation)	Karyopherin/Importin	INM-evaginations, ONM invagination, NE membrane rings with stacked NPCs	S. cerevisiae	[21]
NTF2 (ts allele)	Nuclear transport, RanGDP binding protein	INM-evaginations, nup mis-localization, flattened/loosely stacked membranes	S. cerevisiae	[23]
GLE2 (deletion or ts allele)	RNA export platform nucleoporin	NE herniations, intranuclear annulate lamellae, mRNA export defect	S. cerevisiae	[51]	NE herniation
NUP116 (deletion, or truncation)	Cytoplasmic/mRNA export platform, GLFG repeat nucleoporin	NE herniations, RNA export defect, intranuclear annulate lamellae. (C-terminal deletion results INM evaginations only)	S. cerevisiae	[52–54]
NUP145N (deletion)	GLFG repeat nucleoporin	NE herniations, “grape- like” clustering of NPCs	S. cerevisiae	[46,55]
NUP145N/NUP100 (double deletion)	GLFG repeat nucleoporins	NE herniations, “grape- like” clustering	S. cerevisiae	[56]
NUP85 (deletion)	Y-complex/outer ring nucleoporin	clustering of NPCs, herniations, RNA export defect	S. cerevisiae	[38]
NUP120 (deletion)	Y-complex/outer ring nucleoporin	NE herniations, clustering of NPCs, RNA export defect	S. cerevisiae	[42,43]
NUP145C (truncation, ts allele)	Y-complex/outer ring nucleoporin	NE herniations, clustering of NPCs, RNA export defect	S. cerevisiae	[44]
SEC13 (ts alleles)	Y-complex/outer ring nucleoporin, COPII coat protein	NE herniations, “grape- like” clustering of NPCs, disruption of ER network	S. cerevisiae	[47,48]
NUP188 (ts allele or combination with NUP116 GLFG deletion)	Inner ring scaffold nucleoporin	NE herniations	S. cerevisiae	[39–41,49]
NUP154 (allele)	Inner ring scaffold nucleoporin	NE herniations, mis- localization of nucleoporins	Drosophila	[50]
NUP57 (ts allele)	FG repeat containing central channel nucleoporin	NE herniations	S. cerevisiae	[37]
MTR10/KAP111 (ts allele)	Karyopherin/Importin	NE herniations, NPC clustering, RNA export defect, expansion of PNS	S. cerevisiae	[22]
ACC1 (ts allele)	Acetyl-coA carboxylase	NE herniations, expansion of PNS, RNA export defect	S. cerevisiae	[22,57]
APQ12 (deletion)	Transmembrane NE protein, NE lipid composition regulator	NE herniations at 23 °C and 37 °C. Hypersensitivity to membrane fluidizers. Mis-localization of cytoplasmic filaments/RNA export platform and outer ring components at 23 °C, RNA export defect	S. cerevisiae	[59,60]
BRR6 (ts allele)	Transmembrane NE protein, ill-defined function, possible NE lipid composition regulator	NE herniations at 18 °C, RNA export defect	S. cerevisiae	[60,74]
BRR6, BRL1 (tandem depletion)	Transmembrane NE proteins, mostly unknown function, possible NE lipid composition regulator	NE herniations, NPC clustering	S. cerevisiae	[73]
MGA2 (deletion) SPT23 (ts allele)	Regulator of OLE1 transcription	NE herniations, expansion of PNS, intralumenal vesicles	S. cerevisiae	[58]
NPL4 (ts alleles)	Component of Ufd- Cdc48 complex, ERAD, and NE reformation in mammalian cells	NE herniations filled with electron dense material (poly-A RNA), RNA export defect	S. cerevisiae	[116]
POM152/VPS4 (double deletion)	(POM152) Transmembrane nucleoporin, (VPS4) AAA-ATPase for ESCRT based membrane fission	NE herniations, NPC clustering	S. cerevisiae	[14]
TOR1A/B/3A/2A (deletion)	Ill-defined function	NE herniations containing K48 ubiquitin labling	HeLa cells	[63]
Torsin (knockdown)	Ill-defined function	NE herniations, abnomal DFz2C foci	Drosophila	[70]
ooc-5 (knockdown)	TorA homolog, ill- defined function	NE herniations, mislocalization of nups and clustering of NPCs	C. elegans	[69]
TOR1A (conditional deletion)	Ill-defined function	NE herniations, abnormal LaminA/C and Sun1 localization	M. musculus	[65,67,71]
TOR1A ∆E	Ill-defined function, single amino acid deletion at aa302/303 Tor1A found in dystonia patients	NE herniations	M. musculus	[64]
TOR1A EQ (overexpression)	Ill-defined function, construct with point mutation in Walker B domain at aaE171Q, abolishing ATPase activity	NE herniations, regions of abnormally narrow PNS	Chinese hamster ovary cells	[117]
LAP1/LULL1 (knockdown)	Transmembrane Torsin co-factors, ill-defined function	NE herniations	HeLa cells	[63]

ts = temperature sensitive