Alternative titles; symbols
HGNC Approved Gene Symbol: PUDP
Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:6,705,838-7,148,153 (from NCBI)
Yen et al. (1992) identified a new gene, designated GS1, by its association with a CpG island approximately 100 kb telomeric to the steroid sulfatase locus (STS; 300747) on the distal short arm of the X chromosome. They isolated and characterized both cDNA and genomic clones. The cDNA clone detected a 2.3-kb transcript in human placenta and fibroblasts and appeared to encode a protein of 214 amino acid residues. The GS1 gene was expressed from mouse-human cell hybrids containing either active or inactive human X chromosomes, indicating that it escapes X inactivation.
Although Yen et al. (1992) detected homologous sequences on chromosomes 1, 20, and Y, the functional GS1 gene was located on the X chromosome.
The GS1 gene contains 4 exons spanning over 105 kb, with its transcriptional direction opposite to that of the STS gene.
Yen et al. (1992) stated that there are no obvious clinical differences between STS-deficient patients with point mutations in the STS gene and patients with a deletion of both the STS and the GS1 genes.
Yen, P. H., Ellison, J., Salido, E. C., Mohandas, T., Shapiro, L. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum. Molec. Genet. 1: 47-52, 1992. [PubMed: 1284467] [Full Text: https://doi.org/10.1093/hmg/1.1.47]