UFD1

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]

Description

Ubiquitin recognition factor in ER associated degradation 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

22 (19449911 - 19479202)

Ensembl ID

ENSG00000070010  (ver. 103.38)

Orthologs

Mouse Ufd1: ENSMUSG00000005262

UniProt

Q92890

neXtProt

NX_Q92890

Human splice variants
Mouse splice variants

Protein structure