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).
Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440). {Experimental EvidencePubMed:31178128, Experimental EvidencePubMed:9049309, Curator InferencePubMed:8108440}. (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro). {Experimental EvidencePubMed:25410864}.
Note=A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non- lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene. {Experimental EvidencePubMed:1549122}. Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. {Experimental EvidencePubMed:1630450}. Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426]: An autosomal recessive disorder characterized by infancy- onset of episodic neurodevelopmental regression in association with infection-induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. {Experimental EvidencePubMed:30758658, Experimental EvidencePubMed:31178128}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Note=Chromosomal aberrations involving NUP214 are found in acute lymphoblastic leukemia (PubMed:20851865, PubMed:15361874). Translocation t(9;9)(q34;q34) with ABL1 (PubMed:15361874). Translocation t(5;9)(q35;q34) with SQSTM1 (PubMed:20851865). {Experimental EvidencePubMed:15361874, Experimental EvidencePubMed:20851865}.
Immunoglobulin heavy constant gamma 1 (Ig gamma-1 chain C region) (Ig gamma-1 chain C region EU) (Ig gamma-1 chain C region KOL) (Ig gamma-1 chain C region NIE)
Pleckstrin homology domain-containing family G member 6 (PH domain-containing family G member 6) (Myosin-interacting guanine nucleotide exchange factor) (MyoGEF)
FERM, ARHGEF and pleckstrin domain-containing protein 1 (Chondrocyte-derived ezrin-like protein) (FERM, RhoGEF and pleckstrin domain-containing protein 1) (Pleckstrin homology domain-containing family C member 2) (PH domain-containing family C member 2)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory