Aliases for UFD1 Gene
External Ids for UFD1 Gene
Previous HGNC Symbols for UFD1 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 UFD1 Gene
UFD1 (Ubiquitin Recognition Factor In ER Associated Degradation 1) is a Protein Coding gene. Diseases associated with UFD1 include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Metabolism of proteins and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template.
UniProtKB/Swiss-Prot Summary for UFD1 Gene
Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, 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-UFD1-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 (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and NPLOC4, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).