USP9Y gene

ubiquitin specific peptidase 9 Y-linked

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

From UniProt:

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 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. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spermatogenic failure, Y-linked 2

From UniProt:

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).

Spermatogenic failure Y-linked 2 (SPGFY2): A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. [MIM:415000]

Cytogenetic Location: Yq11.221, which is the long (q) arm of the Y chromosome at position 11.221

Molecular Location: base pairs 12,701,231 to 12,860,843 on the Y chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: Yq11.221, which is the long (q) arm of the Y chromosome at position 11.221
  • DFFRY
  • SPGFY2