Entity Details

Primary name USP9Y
Entity type gene
Source Source Link

Details

PrimaryID8287
RefseqGeneNG_008311
SymbolUSP9Y
Nameubiquitin specific peptidase 9 Y-linked
ChromosomeY
LocationYq11.221
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-02-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUSP9Y_HUMAN

GO terms

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GOName
GO:0004197 cysteine-type endopeptidase activity
GO:0004843 thiol-dependent deubiquitinase
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007283 spermatogenesis
GO:0008234 cysteine-type peptidase activity
GO:0016477 cell migration
GO:0016579 protein deubiquitination
GO:0030509 BMP signaling pathway
GO:0070410 co-SMAD binding

Diseases

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Disease IDSourceNameDescription
415000 OMIMSpermatogenic failure Y-linked 2 (SPGFY2)A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. The disease may be caused by variants affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is uncertain (PubMed:19246359). 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).