| Modification Notes |
SPEN, also known as MINT, SHARP or RBM15C, is a 3,664 amino acid protein that localizes to the nucleus and contains one RID domain, one SPOC domain and four RRM domains. Expressed at high levels in spleen, testis, brain and thymus, SPEN interacts with several proteins, including Msx-2, SMRTe, HDAC1 and HDAC2, and functions as a corepressor that is thought to negatively regulate the Notch signaling pathway. SPEN, which is functionally induced by 17-∫-estradiol and is subject to DNA damage-dependent phosphorylation, may also block the differentiation of precursor B-cells into marginal zone B-cells. The gene encoding SPEN maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. |