Phosphoserine phosphatase pseudogene 1 (PSPHP1)

Phosphoserine phosphatase pseudogene 1 (PSPHP1) is a human pseudogene located on chromosome 7 that is highly homologous to the functional phosphoserine phosphatase gene but lacks protein-coding function due to inactivating mutations or genomic context[2][3][8]. PSPHP1 is significantly upregulated in fibroblasts from Fanconi's anemia patients, particularly in B-cells of complementation group A, while its expression is low or absent in normal fibroblasts[2][5][8]. Despite this distinctive expression pattern, there is no evidence that PSPHP1 encodes a functional protein or acts as a therapeutic target; instead, it may play a role in regulating gene expression at the RNA level in certain disease contexts[2][6][7]. No small molecules or biologics specifically target PSPHP1, and it is not implicated in classic pathways of signal transduction, transport, or catalysis[2][8].

Other names

Putative phosphoserine phosphatase-like proteinCO9PSPHLL-3-phosphoserine-phosphatase homologtesticular tissue protein Li 154