USP9Y

From Wikipedia, the free encyclopedia

Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)

Identifiers

USP9Y; SP3; AZF; AZFA; DFFRY

External IDs

OMIM: 400005 MGI: 1313274 HomoloGene: 68408

Gene ontology
Molecular Function:	• ubiquitin thiolesterase activity • calcium ion binding • calcium-dependent phospholipid binding • cysteine-type peptidase activity
Biological Process:	• ubiquitin-dependent protein catabolic process • ubiquitin cycle • spermatogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_004654 (mRNA)
NP_004645 (protein)

NM_148943 (mRNA)
NP_683745 (protein)

Location

Chr Y: 13.32 - 13.48 Mb

Chr Y: 0.64 - 0.8 Mb

Pubmed search

[1]

[2]

Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), also known as USP9Y, is a human gene.^[1]

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. Mutations in this gene have been associated with Sertoli cell-only (SCO) syndrome and male infertility.^[1]

[edit] References

^ ^a ^b Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila).

[edit] Further reading

D'Andrea A, Pellman D (1999). "Deubiquitinating enzymes: a new class of biological regulators.". Crit. Rev. Biochem. Mol. Biol. 33 (5): 337–52. PMID 9827704.
Mesco ER, Timiras PS (1992). "Tau-ubiquitin protein conjugates in a human cell line.". Mech. Ageing Dev. 61 (1): 1–9. PMID 1723470.
Vogt PH, Edelmann A, Kirsch S, et al. (1997). "Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.". Hum. Mol. Genet. 5 (7): 933–43. PMID 8817327.
Jones MH, Furlong RA, Burkin H, et al. (1997). "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.". Hum. Mol. Genet. 5 (11): 1695–701. PMID 8922996.
Lahn BT, Page DC (1997). "Functional coherence of the human Y chromosome.". Science 278 (5338): 675–80. PMID 9381176.
Brown GM, Furlong RA, Sargent CA, et al. (1998). "Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene.". Hum. Mol. Genet. 7 (1): 97–107. PMID 9384609.
"Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. PMID 9847074.
Sun C, Skaletsky H, Birren B, et al. (1999). "An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.". Nat. Genet. 23 (4): 429–32. doi:10.1038/70539. PMID 10581029.
Foresta C, Ferlin A, Moro E (2000). "Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.". Hum. Mol. Genet. 9 (8): 1161–9. PMID 10767340.
Friel A, Houghton JA, Glennon M, et al. (2002). "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men.". Int. J. Androl. 25 (1): 59–64. PMID 11869379.
Ioulianos A, Sismani C, Fourouclas N, et al. (2002). "A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.". Int. J. Androl. 25 (3): 153–8. PMID 12031043.
Dada R, Gupta NP, Kucheria K (2003). "Cryptorchidism and AZF microdeletion.". Asian J. Androl. 4 (2): 148. PMID 12085107.
Dada R, Gupta NP, Kucheria K (2003). "AZF microdeletions associated with idiopathic and non-idiopathic cases with cryptorchidism and varicocele.". Asian J. Androl. 4 (4): 259–63. PMID 12508125.
Richard SM, Knuutila S, Peltomäki P, et al. (2003). "Y chromosome instability in lymphoproliferative disorders.". Mutat. Res. 525 (1-2): 103–7. PMID 12650910.
Raicu F, Popa L, Apostol P, et al. (2003). "Screening for microdeletions in human Y chromosome--AZF candidate genes and male infertility.". J. Cell. Mol. Med. 7 (1): 43–8. PMID 12767260.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.". Nature 423 (6942): 825–37. doi:10.1038/nature01722. PMID 12815422.
Hopps CV, Mielnik A, Goldstein M, et al. (2004). "Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions.". Hum. Reprod. 18 (8): 1660–5. PMID 12871878.
Lee KH, Song GJ, Kang IS, et al. (2005). "Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome.". Reprod. Fertil. Dev. 15 (1-2): 129–33. PMID 12895410.
Frydelund-Larsen L, Vogt PH, Leffers H, et al. (2004). "No AZF deletion in 160 patients with testicular germ cell neoplasia.". Mol. Hum. Reprod. 9 (9): 517–21. PMID 12900510.