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 inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina.
The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33315887, PubMed:33293369). Proteolytically removes the C- terminal three residues of farnesylated proteins. Plays also an antiviral role independently of its protease activity by restricting enveloped RNA and DNA viruses, including influenza A, Zika, Ebola, Sindbis, vesicular stomatitis, cowpox, and vaccinia (PubMed:28246125). Mechanistically, controls IFITM antiviral pathway to hinder viruses from breaching the endosomal barrier by modulating membrane fluidity (PubMed:35283811). {Experimental EvidencePubMed:28246125, Experimental EvidencePubMed:33293369, Experimental EvidencePubMed:33315887, Experimental EvidencePubMed:35283811}.
Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]: A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. {Experimental EvidencePubMed:12913070, Experimental EvidencePubMed:17152860, Experimental EvidencePubMed:18435794, Experimental EvidencePubMed:20814950}. Note=The disease is caused by variants affecting the gene represented in this entry. Restrictive dermopathy 1 (RSDM1) [MIM:275210]: An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {Experimental EvidencePubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry.
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory