USP9X: Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important role regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Interacts with SMAD4, MARK4, NUAK1 and BIRC5/survivin. Widely expressed in embryonic and adult tissues. Belongs to the peptidase C19 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.4.19.12; Ubiquitin-specific protease; Protease; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: Xp11.4
Cellular Component: growth cone; membrane; apical part of cell; cytoplasm; cytosol
Molecular Function: protein binding; cysteine-type endopeptidase activity; ubiquitin-specific protease activity; cysteine-type peptidase activity
Biological Process: transcription initiation from RNA polymerase II promoter; proteasomal ubiquitin-dependent protein catabolic process; mitosis; protein deubiquitination; transcription, DNA-dependent; axon extension; in utero embryonic development; hippocampus development; neuron migration; female gamete generation; negative regulation of transcription from RNA polymerase II promoter; cerebellar cortex structural organization; post-embryonic development; chromosome segregation; BMP signaling pathway; cell division; transforming growth factor beta receptor signaling pathway; gene expression
Disease: Mental Retardation, X-linked 99
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