USP9Y gene

ubiquitin specific peptidase 9, Y-linked

The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. This gene is found on the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).

Because it is located on the Y chromosome, the USP9Y gene is present only in males. It occurs in a region of the Y chromosome called azoospermia factor A (AZFA). Azoospermia is the absence of sperm cells. The USP9Y gene is believed to be involved in sperm cell development, but its specific function is not well understood.

A small number of individuals with Y chromosome infertility have mutations in the USP9Y gene or deletions of all or part of the gene. These changes in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in an inability to father children.

Cytogenetic Location: Yq11.2, which is the long (q) arm of the Y chromosome at position 11.2

Molecular Location: base pairs 12,701,231 to 12,860,844 on the Y chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Yq11.2, which is the long (q) arm of the Y chromosome at position 11.2
  • AZF
  • AZF1
  • AZFA
  • azoospermia factor 1
  • deubiquitinating enzyme FAF-Y
  • DFFRY
  • fat facets protein related, Y-linked
  • FLJ33043
  • SP3
  • ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)
  • ubiquitin-specific processing protease FAF-Y
  • ubiquitin specific protease 9, Y chromosome (fat facets-like Drosophila)
  • ubiquitin specific protease 9, Y-linked
  • ubiquitin thiolesterase FAF-Y
  • USP9Y_HUMAN