UFD1L is a member of the UFD1 family of proteins and is a component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. This complex, also containing UFD1L, VCP and NPLOC4, binds ubiquitinated proteins and is required for the export of misfolded proteins from the ER to the cytoplasm for disposal. The NPLOC4-UFD1L-VCP complex also regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. UFD1L gene hemizygosity is the cause of some developmental defects including DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS) and Opitz G/BBB syndrome. UFD1L has 2 named isoforms produced by alternative splicing.
Function:
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.
Subunit:
Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion. Interacts with USP13.
Subcellular Location:
Cytoplasmic and Nuclear
Tissue Specificity:
Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
Similarity:
Belongs to the UFD1 family.
SWISS:
Q92890
Gene ID:
7353
Database links:
Entrez Gene: 7353 Human
Entrez Gene: 22230 Mouse
Entrez Gene: 84478 Rat
Omim: 601754 Human
SwissProt: Q92890 Human
SwissProt: P70362 Mouse
SwissProt: Q9ES53 Rat
Unigene: 474213 Human
Unigene: 237594 Mouse
Unigene: 11946 Rat
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