The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
The nuclear pore complex (NPC) constitutes the exclusive means of nucleocytoplasmic transport. NPCs allow the passive diffusion of ions and small molecules and the active bidirectional transport of macromolecules such as proteins, RNAs etc across the double-membrane nuclear envelope.The NPC is composed of at least 30 distinct subunits known as Nucleoporins (NUPs).
Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630). {Experimental EvidencePubMed:1915414, Experimental EvidencePubMed:24107630}.
Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and intellectual disability. {Experimental EvidencePubMed:16786527}. Note=The disease is caused by variants affecting the gene represented in this entry.
Golgi-associated PDZ and coiled-coil motif-containing protein (CFTR-associated ligand) (Fused in glioblastoma) (PDZ protein interacting specifically with TC10) (PIST)
Inhibitor of nuclear factor kappa-B kinase-interacting protein (I kappa-B kinase-interacting protein) (IKBKB-interacting protein) (IKK-interacting protein)
Centromere protein U (CENP-U) (Centromere protein of 50 kDa) (CENP-50) (Interphase centromere complex protein 24) (KSHV latent nuclear antigen-interacting protein 1) (MLF1-interacting protein) (Polo-box-interacting protein 1)
Centrosomal protein CEP57L1 (Centrosomal protein 57kDa-like protein 1) (Centrosomal protein of 57 kDa-related protein) (Cep57R) (Cep57-related protein)
Anterior gradient protein 3 (AG-3) (AG3) (hAG-3) (Anterior gradient 3 homolog) (Breast cancer membrane protein 11) (Protein disulfide isomerase family A, member 18)
Endoplasmic reticulum chaperone BiP (EC 3.6.4.10) (78 kDa glucose-regulated protein) (GRP-78) (Binding-immunoglobulin protein) (BiP) (Heat shock protein 70 family protein 5) (HSP70 family protein 5) (Heat shock protein family A member 5) (Immunoglobulin heavy chain-binding protein)
Harmonin-binding protein USHBP1 (AIE-75-binding protein) (Mutated in colon cancer protein 2) (MCC-2) (Usher syndrome type-1C protein-binding protein 1) (USH1C-binding protein 1)
Caveolae-associated protein 3 (Cavin-3) (Protein kinase C delta-binding protein) (Serum deprivation response factor-related gene product that binds to C-kinase) (hSRBC)
Max dimerization protein 3 (Max dimerizer 3) (Class C basic helix-loop-helix protein 13) (bHLHc13) (Max-associated protein 3) (Max-interacting transcriptional repressor MAD3) (Myx)
E3 ubiquitin-protein ligase LNX (EC 2.3.2.27) (Ligand of Numb-protein X 1) (Numb-binding protein 1) (PDZ domain-containing RING finger protein 2) (RING-type E3 ubiquitin transferase LNX)
Cullin-associated NEDD8-dissociated protein 1 (Cullin-associated and neddylation-dissociated protein 1) (TBP-interacting protein of 120 kDa A) (TBP-interacting protein 120A) (p120 CAND1)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory