QuickView for UFD1 (gene)

Gene Symbol:

UFD1 Homo sapiens

Full name:

ubiquitin recognition factor in ER associated degradation 1

Synonyms:

UFD1L, ubiquitin recognition factor in ER-associated degradation protein 1, ubiquitin fusion degradation protein 1 homolog, UB fusion protein 1, ubiquitin fusion degradation 1 like

Genomic Location:

Chr 22: 17817701-17846726

Description:

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. ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  TGANNYRGCA_TCF11MAFG_01 ,  E2F1_Q4_01 ,  E2F_Q6_01 ,  E2F1_Q4 ,  E2F_Q6 ,  E2F1_Q6_01 ,  E2F_Q4 ,  CCAWYNNGAAR_UNKNOWN ,  NFY_01 ,  ACTAYRNNNCCCR_UNKNOWN ,  MGGAAGTG_GABP_B ,  E2F_03 ,  E2F_Q4_01 ,  SCGGAAGY_ELK1_02 ,  KMCATNNWGGA_UNKNOWN ,  CCCNNNNNNAAGWT_UNKNOWN ,  SMAD_Q6 ,  ELK1_02 ,  E2F_Q3 ,  E2F_Q3_01 ,  TCF11MAFG_01

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Cytogenetic Map:

22q11.21

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