ubiquitin carboxyl-terminal hydrolase FAF-Y; deubiquitinating enzyme FAF-Y; fat facets protein-related, Y-linked; ubiquitin thiolesterase FAF-Y; ubiquitin-specific protease 9, Y chromosome; ubiquitin-specific-processing protease FAF-Y (USP9Y, DFFRY)
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Function
- may function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors & of ubiquitinated proteins
- may play a regulatory role by preventing degradation of proteins through the removal of conjugated ubiquitin
- essential component of TGF-beta/BMP signaling cascade
- deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33
- monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF- beta/BMP signaling cascade.
- deubiqitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling
- thiol-dependent hydrolysis of ester, thioester, amide, peptide & isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)
- interacts with SMAD4 (putative)
Structure
belongs to the peptidase C19 family
Compartment
Alternative splicing
- named isoforms=2
- additional isoforms seem to exist
- at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression
- widely expressed in embryonic & adult tissues
Pathology
- USP9Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli-cell-only syndrome
- defects in USP9Y might be a cause of spermatogenic failure non-obstructive Y-linked
- the role of USP9Y in spermatogenesis failure is uncertain
- absence of USP9Y found in a man with normal sperm
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O00507.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/USP9Y
- ↑ OMIM https://mirror.omim.org/entry/400005
- ↑ Luddi A et al Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med. 2009 Feb 26;360(9):881-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19246359