Aliases for USB1 Gene
External Ids for USB1 Gene
Previous HGNC Symbols for USB1 Gene
Previous GeneCards Identifiers for USB1 Gene
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]
GeneCards Summary for USB1 Gene
USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with USB1 include Poikiloderma With Neutropenia and Dyskeratosis Congenita. Gene Ontology (GO) annotations related to this gene include nuclease activity and 3'-5'-exoribonuclease activity.
UniProtKB/Swiss-Prot Summary for USB1 Gene
Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.