UFD1L

Ubiquitin fusion degradation protein 1 homolog is a protein that in humans is encoded by the UFD1L gene.^[5][6]

UFD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YUJ, 5C1B
Identifiers
Aliases	UFD1, UFD1L, ubiquitin fusion degradation 1 like (yeast), ubiquitin recognition factor in ER associated degradation 1
External IDs	OMIM: 601754; MGI: 109353; HomoloGene: 39090; GeneCards: UFD1; OMA:UFD1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.21 Start 19,449,911 bp[1] End 19,479,202 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.65 cM Start 18,630,529 bp[2] End 18,654,011 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii islet of Langerhans corpus epididymis gastrocnemius muscle stromal cell of endometrium palpebral conjunctiva skin of thigh oral cavity placenta glutes Top expressed in dorsomedial hypothalamic nucleus median eminence seminiferous tubule habenula ventral tegmental area dentate gyrus of hippocampal formation granule cell superior cervical ganglion neural layer of retina cerebellar cortex subiculum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-containing complex binding ATPase binding K48-linked polyubiquitin modification-dependent protein binding signaling receptor binding protein binding thiol-dependent deubiquitinase Cellular component cytoplasm cytosol nucleus UFD1-NPL4 complex nucleoplasm endoplasmic reticulum VCP-NPL4-UFD1 AAA ATPase complex Biological process error-free translesion synthesis skeletal system development retrograde protein transport, ER to cytosol ER-associated misfolded protein catabolic process proteasome-mediated ubiquitin-dependent protein catabolic process ubiquitin-dependent protein catabolic process protein deubiquitination negative regulation of type I interferon production negative regulation of RIG-I signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7353 22230 Ensembl ENSG00000070010 ENSMUSG00000005262 UniProt Q92890 P70362 RefSeq (mRNA) NM_001035247 NM_005659 NM_001362910 NM_011672 RefSeq (protein) NP_001030324 NP_005650 NP_001349839 NP_035802 Location (UCSC) Chr 22: 19.45 – 19.48 Mb Chr 16: 18.63 – 18.65 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene forms a complex with two other proteins, NPL4 and VCP, that 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.^[6]

Interactions

UFD1L has been shown to interact with NPLOC4.^[7][8]