Alternative titles; symbols
HGNC Approved Gene Symbol: UTP11
Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38) : 1:38,012,734-38,024,820 (from NCBI)
By searching an EST database for a transcript downregulated in early-stage Alzheimer disease (104300) brain, followed by screening a brain cDNA library and 5-prime RACE, Heese et al. (2002) cloned UTP11L, which they called CGI94. The deduced 253-amino acid protein has a calculated molecular mass of 30.4 kD. It is lysine rich and contains a bipartite nuclear localization signal and several serine, threonine, and tyrosine phosphorylation sites. Fluorescence-labeled CGI94 was expressed in the nucleolus of transfected rat neuroblastoma cells, and it was detected in the supernatant of transfected Chinese hamster ovary cells. Immunohistochemical analysis of rat brain detected CGI94 in specific regions of the hippocampus and cortex.
By cDNA microarray analysis and RT-PCR, Heese et al. (2002) found that CGI94 was significantly downregulated in the hippocampus of early-stage Alzheimer disease brain.
The International Radiation Hybrid Mapping Consortium mapped the CGI94 gene to chromosome 1 (RH17970).
Heese, K., Nakayama, T., Hata, R., Masumura, M., Akatsu, H., Li, F., Nagai, Y., Yamamoto, T., Kosaka, K., Suemoto, T., Sawada, T. Characterizing CGI-94 (comparative gene identification-94) which is down-regulated in the hippocampus of early stage Alzheimer's disease brain. Europ. J. Neurosci. 15: 79-86, 2002. [PubMed: 11860508] [Full Text: https://doi.org/10.1046/j.0953-816x.2001.01836.x]