USP9X Antibody – Rabbit Polyclonal

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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; Protease; Ubiquitin-specific 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: mitosis; proteasomal ubiquitin-dependent protein catabolic process; transcription initiation from RNA polymerase II promoter; 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