This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants.
This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1.
NFE2L2(nuclear factor, erythroid 2 like 2) Homo sapiens This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene.
Wolf-Hirschhorn syndrome candidate 1-like protein 1 (WHSC1L1), also known as histone-lysine N-methyltransferase NSD3, is a SET domaincontaining histone methyltransferase protein that methylates histone H3 on lysine 4 (H3K4me) and lysine 27 (H3K27me) (1). Methylation of histone H3 lysine 4 is associated with transcriptional activation, while methylation of histone H3 lysine 27 is associated with transcriptional repression. WHSC1L1 can function as an oncogene or a tumor suppressor protein, depending on cell context, and has been shown to regulate expression of a number of genes associated with cell cycle (2). Amplification and/or increased expression of WHSC1L1 in breast, lung, and liver cancer increases growth and survival, and is associated with poor prognosis (2-5). In addition, the NSD3 gene has been found fused with the nuclear pore complex protein NUP98 gene in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), and fused with the NUT gene in NUT midline carcinomas (6-10).
Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival.
This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4.
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.
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