Primary Identifier | MGI:107698 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 13532 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type deubiquitinase activity. Involved in chordate embryonic development. Acts upstream of or within protein deubiquitination. Predicted to be located in endoplasmic reticulum membrane and nucleolus. Predicted to be active in cytosol and nucleus. Orthologous to several human genes including USP17L1 (ubiquitin specific peptidase 17 like family member 1); USP17L10 (ubiquitin specific peptidase 17 like family member 10); and USP17L11 (ubiquitin specific peptidase 17 like family member 11). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic elthality before implantation, failure to hatch from the zona pellucida, decreased cell proliferation and increased apoptosis. Mice heterozygous for this allele exhibit abnormal body, testis and thymus weight and reduced sperm motility. [provided by MGI curators] |