GO curators for mouse genes have assigned the following annotations to the gene product of Usb1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of June 9, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]Summary text based on GO annotations supported by experimental evidence in other organisms
From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Usb1:
participates in the following biological processes:
Annotations directly to for the gene Usb1 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.
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