Homo sapiens Gene: UFD1L
Summary
InnateDB Gene IDBG-1363.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UFD1L
Gene Name ubiquitin fusion degradation 1 like (yeast)
Synonyms UFD1;
Species Homo sapiens
Ensembl Gene ENSG00000070010
Encoded Proteins
ubiquitin fusion degradation 1 like (yeast)
ubiquitin fusion degradation 1 like (yeast)
ubiquitin fusion degradation 1 like (yeast)
ubiquitin fusion degradation 1 like (yeast)
ubiquitin fusion degradation 1 like (yeast)
ubiquitin fusion degradation 1 like (yeast)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19449910-19479215
Strand Reverse strand
Band q11.21
Transcripts
ENST00000263202 ENSP00000263202
ENST00000399523 ENSP00000382439
ENST00000447868 ENSP00000402136
ENST00000421968 ENSP00000406680
ENST00000459854
ENST00000466373
ENST00000484101
ENST00000489406
ENST00000494054 ENSP00000418390
ENST00000474226 ENSP00000418295
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 89 [view]
Protein-Protein 89 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004843 ubiquitin-specific protease activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0001501 skeletal system development
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q92890
TrEMBL C9J6N9 C9J7C8
UniProt Splice Variant
Entrez Gene 7353
UniGene
RefSeq NM_001035247 NM_005659
HUGO HGNC:12520
OMIM 601754
CCDS CCDS33600 CCDS13761
HPRD 06778
IMGT
EMBL AC000068 AC000087 AF141201 AK225877 BC001049 BC005087 CR456607 U64444
GenPept AAD08720 AAD28788 AAH01049 AAH05087 CAG30493
RNA Seq Atlas 7353