Human Gene UFD1L (uc002zpm.2) Description and Page Index
Description: Homo sapiens ubiquitin fusion degradation 1 like (yeast) (UFD1L), transcript variant 1, mRNA. RefSeq Summary (NM_005659): 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]. Transcript (Including UTRs) Position: hg19 chr22:19,437,464-19,466,738 Size: 29,275 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr22:19,438,193-19,466,608 Size: 28,416 Coding Exon Count: 12
ID:UFD1_HUMAN DESCRIPTION: RecName: Full=Ubiquitin fusion degradation protein 1 homolog; Short=UB fusion protein 1; 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. PATHWAY: Protein degradation; proteasomal ubiquitin-dependent pathway. SUBUNIT: Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion. Interacts with USP13. SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm, cytosol (By similarity). TISSUE SPECIFICITY: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney. SIMILARITY: Belongs to the UFD1 family.
Genetic Association Studies of Complex Diseases and Disorders
Body Weights and Measures Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
schizophrenia De Luca A 2001, , American journal of medical genetics. 2001 Aug;105(6):529-33.
The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92890
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001501 skeletal system development GO:0006511 ubiquitin-dependent protein catabolic process GO:0016579 protein deubiquitination GO:0030970 retrograde protein transport, ER to cytosol GO:0032480 negative regulation of type I interferon production GO:0039536 negative regulation of RIG-I signaling pathway GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0070987 error-free translesion synthesis GO:0071712 ER-associated misfolded protein catabolic process