NUP214
Domain
Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
The beta-propeller contains long interblade connector loops, and mediates interaction with DDX19B.
Function
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).
(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).
Involvement in disease
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.
A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET.
Encephalopathy, acute, infection-induced, 9
IIAE9
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Chromosomal aberrations involving NUP214 are found in acute lymphoblastic leukemia (PubMed:15361874, PubMed:20851865). Translocation t(9;9)(q34;q34) with ABL1 (PubMed:15361874). Translocation t(5;9)(q35;q34) with SQSTM1 (PubMed:20851865).
Post-translational modifications
Probably glycosylated as it reacts with wheat germ agglutinin (WGA).
Tissue Specificity
Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
Cellular localization
- Nucleus
- Nuclear pore complex
- Cytoplasmic side of the nuclear pore complex.
Alternative names
CAIN, CAN, KIAA0023, NUP214, Nuclear pore complex protein Nup214, 214 kDa nucleoporin, Nucleoporin Nup214, Protein CAN