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| http://www.biopax.org/relea... | |
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Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
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| http://www.biopax.org/relea... |
USP9Y_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
3.4.19.12,
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
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| http://www.biopax.org/relea... |
FUNCTION: May function as a ubiquitin-protein or polyubiquitin hydrolase 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. 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 (By similarity). CATALYTIC ACTIVITY: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). SUBUNIT: Interacts with SMAD4 (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=Long; IsoId=O00507-1; Sequence=Displayed; Name=Short; IsoId=O00507-2; Sequence=VSP_005272; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; TISSUE SPECIFICITY: Widely expressed in embryonic and adult tissues. DISEASE: Note=USP9Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli cell- only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous tubules leading to azoospermia. However AZFa deletions resulting in complete loss of USP9Y have been also found in normospermic men (PubMed:19246359). DISEASE: Defects in USP9Y may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=The role of USP9Y in spermatogenesis failure is uncertain. A 4-bp deletion in a splice-donor site, causing exon skipping and protein truncation has been observed in non-obstructive azoospermia (PubMed:10581029). However complete USP9Y deletion has been detected in individuals with no spermatogenic defects (PubMed:19246359). SIMILARITY: Belongs to the peptidase C19 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USP9Y"; GENE SYNONYMS: DFFRY. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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