Aliases for UFD1L Gene
External Ids for UFD1L Gene
Previous GeneCards Identifiers for UFD1L Gene
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
GeneCards Summary for UFD1L Gene
UFD1L (Ubiquitin Fusion Degradation 1 Like (Yeast)) is a Protein Coding gene. Diseases associated with UFD1L include inclusion body myopathy with paget disease of bone and frontotemporal dementia and velocardiofacial syndrome. Among its related pathways are DNA Double-Strand Break Repair and Protein processing in endoplasmic reticulum. GO annotations related to this gene include receptor binding and ubiquitin-specific protease activity.
UniProtKB/Swiss-Prot for UFD1L Gene
Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures