Primary Identifier | MGI:109353 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 22230 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables K48-linked polyubiquitin modification-dependent protein binding activity. Involved in retrograde protein transport, ER to cytosol. Located in cytoplasm. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. Is expressed in several structures, including brain; branchial arch; cardiovascular system; forelimb bud; and sensory organ. Human ortholog(s) of this gene implicated in DiGeorge syndrome and schizophrenia. Orthologous to human UFD1 (ubiquitin recognition factor in ER associated degradation 1). PHENOTYPE: Mice heterozygous for a knock-out allele are viable with no obvious heart defects. [provided by MGI curators] |