Alternative titles; symbols
HGNC Approved Gene Symbol: USP11
Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38) : X:47,233,009-47,248,328 (from NCBI)
Swanson et al. (1996) used a differential hybridization screen to isolate a novel cDNA, designated UHX1, from a human retina library. The cDNA encodes a protein of 690 amino acids that shows strong homology to the proteins encoded by a variety of ubiquitin hydrolases (p values ranging between 2.4e-265 and 1.4e-13).
Swanson et al. (1996) reviewed the role of ubiquitination in protein degradation and presented evidence that disturbances in protein processing and turnover can lead to retinal degeneration. They noted that there are at least 4 X-linked retinal diseases that map to a region within or overlapping the UHX1 interval (see MAPPING). They cited evidence indicating that ubiquitin hydrolases play a role in oncogenesis (oncogenes and tumor suppressor gene products are degraded in ubiquitin-dependent pathways) and that the region of loss of heterozygosity in ovarian cancer lies within the mapping interval defined for UHX1.
Swanson et al. (1996) mapped the structural gene encoding this cDNA, which they designated UHX1, to Xp21.2-p11.2 by somatic cell hybridization. By genomic sequence analysis, Stoddart et al. (1999) mapped the UHX1 gene to Xp11.3.
Stoddart, K. L., Jermak, C., Nagaraja, R., Schlessinger, D., Bech-Hansen, N. T. Physical map covering a 2 Mb region in human Xp11.3 distal to DX6849. Gene 227: 111-116, 1999. [PubMed: 9931462] [Full Text: https://doi.org/10.1016/s0378-1119(98)00564-2]
Swanson, D. A., Freund, C. L., Ploder, L., McInnes, R. R., Valle, D. A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders. Hum. Molec. Genet. 5: 533-538, 1996. [PubMed: 8845848] [Full Text: https://doi.org/10.1093/hmg/5.4.533]