USP9Y
Identifiers
AliasesUSP9Y, DFFRY, SPGFY2, ubiquitin specific peptidase 9, Y-linked, ubiquitin specific peptidase 9 Y-linked
External IDsOMIM: 400005 MGI: 1313274 HomoloGene: 68408 GeneCards: USP9Y
Orthologs
SpeciesHumanMouse
Entrez

8287

107868

Ensembl

ENSG00000114374

ENSMUSG00000069044

UniProt

O00507

F8VPU6

RefSeq (mRNA)

NM_004654

NM_148943

RefSeq (protein)

NP_004645

NP_683745

Location (UCSC)Chr Y: 12.54 – 12.86 MbChr Y: 1.3 – 1.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] 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.

Clinical significance

Mutations in this gene have been associated with Sertoli cell-only syndrome (SCO) and male infertility.[5]

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.[6][7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000114374 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000069044 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)".
  6. Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P (February 2009). "Spermatogenesis in a man with complete deletion of USP9Y". N. Engl. J. Med. 360 (9): 881–5. doi:10.1056/NEJMoa0806218. PMID 19246359.
  7. Tyler-Smith C, Krausz C (February 2009). "The Will-o'-the-Wisp of Genetics—Hunting for the Azoospermia Factor Gene". N. Engl. J. Med. 360 (9): 925–7. doi:10.1056/NEJMe0900301. PMC 2700876. PMID 19246366.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.