Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20.
Nucleolin is a multi-functional protein that is one of the major components of the nucleoli. Nucleolin plays an essential role in various steps of ribosome biogenesis including rRNA synthesis, processing of pre-rRNA, pre-ribosomal RNA assembly, and transport of ribosomal proteins out of the nucleus.Down regulation of nucleolin leads to increased expression of p53, defects in genome duplication, and a delay at prometaphase during mitosis leading to cell cycle arrest. In addition, nucleolin has been found in a complex with Rad51 and may participate in DNA repair by homologous recombination. Nucleolin binds to the catalytic subunit of the human telomerase reverse transcriptase, hTERT, and is thought to be involved in telomere maintenance. Nucleolin also possesses histone chaperone activity and is able to enhance the chromatin remodeling efficiency of SWItch/Sucrose Non Fermentable (SWI/SNF) and ATP-dependent chromatin-assembly factor (ACF), remove histone H2A-H2B dimers from nucleosomes, and facilitate the passage of RNA polymerase through chromatin.
This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.
NUP107 plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP107 is required for the assembly of peripheral proteins into the NPC. NUP107 may anchor NUP62 to the NPC.
This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants.
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