USP9Y

USP9Y
Identifiers
Aliases	USP9Y, DFFRY, SPGFY2, ubiquitin specific peptidase 9, Y-linked
External IDs	MGI: 1313274 HomoloGene: 68408 GeneCards: USP9Y
Gene ontology Molecular function • thiol-dependent ubiquitinyl hydrolase activity • peptidase activity • cysteine-type peptidase activity • co-SMAD binding • hydrolase activity • thiol-dependent ubiquitin-specific protease activity Cellular component • cytoplasm Biological process • protein deubiquitination • transforming growth factor beta receptor signaling pathway • cell migration • BMP signaling pathway • ubiquitin-dependent protein catabolic process • spermatogenesis • proteolysis Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8287	107868
Ensembl	ENSG00000114374	ENSMUSG00000069044
UniProt	O00507	n/a
RefSeq (mRNA)	NM_004654	NM_148943
RefSeq (protein)	NP_004645	n/a
Location (UCSC)	Chr Y: 12.7 – 12.86 Mb	Chr Y: 1.3 – 1.46 Mb
PubMed search

8287

107868

ENSG00000114374

ENSMUSG00000069044

O00507

n/a

NM_004654

NM_148943

NP_004645

n/a

Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

Mutations in this gene have been associated with Sertoli cell-only syndrome (SCO) and male infertility.

The USP9Y gene is found on the azoospermia factor (AZF) region on the Y chromosome. Men who have impaired or no sperm production often have a deletion in the AZF region, especially in the USP9Y gene, and it was thought that USP9Y was necessary for sperm production. However, a man and his father with a USP9Y deletion who could produce sperm were recently reported. The corresponding gene is present but inactive in chimpanzees and bonobos.

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