Primary Identifier | MGI:894681 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 22284 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type deubiquitinase activity; cysteine-type endopeptidase activity; and ubiquitin protein ligase binding activity. Involved in generation of neurons; protein deubiquitination involved in ubiquitin-dependent protein catabolic process; and regulation of postsynapse assembly. Acts upstream of or within several processes, including cellular response to transforming growth factor beta stimulus; in utero embryonic development; and nervous system development. Located in apical part of cell and cytoplasm. Is active in postsynapse. Is expressed in several structures, including central nervous system; eye; genitourinary system; limb interdigital region; and lung. Human ortholog(s) of this gene implicated in female-restricted syndromic X-linked intellectual disability 99 and non-syndromic X-linked intellectual disability 99. Orthologous to human USP9X (ubiquitin specific peptidase 9 X-linked). PHENOTYPE: In a conditional model of pancreatic ductal carcinoma, hemizygous males and heterozygous females with a conditional allele exhibit accelerated tumorigenesis. [provided by MGI curators] |