InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: USP9Y

Summary

InnateDB Protein

IDBP-195.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

USP9Y

Protein Name

ubiquitin specific peptidase 9, Y-linked

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000342812

InnateDB Gene

IDBG-191 (USP9Y)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

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 also been found in normospermic men (PubMed:19246359). {ECO:0000269PubMed:19246359}.Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=The disease may be caused by mutations affecting the gene represented in this entry. 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). {ECO:0000269PubMed:10581029, ECO:0000269PubMed:19246359}.

Tissue Specificity

Widely expressed in embryonic and adult tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004843	ubiquitin-specific protease activity
GO:0005488	binding
GO:0008234	cysteine-type peptidase activity
GO:0036459	ubiquitinyl hydrolase activity
GO:0070410	co-SMAD binding

Biological Process

GO:0006511	ubiquitin-dependent protein catabolic process
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007283	spermatogenesis
GO:0016579	protein deubiquitination
GO:0030509	BMP signaling pathway

Cellular Component

GO:0005737

cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
IPR016024 Armadillo-type fold
IPR017853 Glycoside hydrolase, superfamily
IPR028889 Ubiquitin carboxyl-terminal hydrolase-like domain
IPR029071 Ubiquitin-related domain

PFAM

PF00443

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O00507

PhosphoSite