USP9Y

USP9Y
Identifiers
Aliases	USP9Y, DFFRY, SPGFY2, ubiquitin specific peptidase 9, Y-linked, ubiquitin specific peptidase 9 Y-linked
External IDs	OMIM: 400005; MGI: 1313274; GeneCards: USP9Y
Enzyme activity
Gene location (Human)
Chr.	Y chromosome (human)
End	12,860,839 bp
Gene location (Mouse)
Chr.	Y chromosome (mouse)
End	1,459,782 bp
RNA expression pattern
	Top expressed in
	testicle; ; right lung; ; Brodmann area 9; ; prostate; ; gonad; ; skin of thigh; ; seminal vesicula; ; apex of heart; ; corpus epididymis; ; right hemisphere of cerebellum;
	Top expressed in
	spermatid; ; embryo; ; seminiferous tubule; ; spermatocyte; ; Gonadal ridge; ; left lung lobe; ; trachea;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	thiol-dependent deubiquitinase; peptidase activity; cysteine-type peptidase activity; co-SMAD binding; hydrolase activity; cysteine-type endopeptidase 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
Orthologs
Databases	NCBI: entry; OMA: entry
	8287
	107868
	ENSG00000114374
	ENSMUSG00000069044
	O00507
	F8VPU6
	NM_004654
	NM_148943
	NP_004645
	NP_683745
	Wikidata
View/Edit Human	View/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. 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.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000114374 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000069044 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)".
↑ Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, et al. (February 2009). "Spermatogenesis in a man with complete deletion of USP9Y". The New England Journal of Medicine. 360 (9): 881–885. doi:10.1056/NEJMoa0806218. PMID 19246359.
↑ Tyler-Smith C, Krausz C (February 2009). "The Will-o'-the-Wisp of Genetics—Hunting for the Azoospermia Factor Gene". The New England Journal of Medicine. 360 (9): 925–927. doi:10.1056/NEJMe0900301. PMC 2700876. PMID 19246366.

D'Andrea A, Pellman D (1999). "Deubiquitinating enzymes: a new class of biological regulators". Critical Reviews in Biochemistry and Molecular Biology. 33 (5): 337–352. doi:10.1080/10409239891204251. PMID 9827704.
Mesco ER, Timiras PS (1992). "Tau-ubiquitin protein conjugates in a human cell line". Mechanisms of Ageing and Development. 61 (1): 1–9. doi:10.1016/0047-6374(91)90002-H. PMID 1723470. S2CID 13104021.
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. (July 1996). "Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11". Human Molecular Genetics. 5 (7): 933–943. doi:10.1093/hmg/5.7.933. PMID 8817327.
Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, et al. (November 1996). "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2". Human Molecular Genetics. 5 (11): 1695–1701. doi:10.1093/hmg/5.11.1695. PMID 8922996.
Lahn BT, Page DC (1997). "Functional coherence of the human Y chromosome". Science. 278 (5338). New York, N.Y.: 675–680. Bibcode:1997Sci...278..675L. doi:10.1126/science.278.5338.675. PMID 9381176.
Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, Mitchell M, et al. (January 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". Human Molecular Genetics. 7 (1): 97–107. doi:10.1093/hmg/7.1.97. PMID 9384609.
Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, et al. (December 1999). "An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y". Nature Genetics. 23 (4): 429–432. doi:10.1038/70539. PMID 10581029. S2CID 12286008.
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". Human Molecular Genetics. 9 (8): 1161–1169. doi:10.1093/hmg/9.8.1161. PMID 10767340.
Friel A, Houghton JA, Glennon M, Lavery R, Smith T, Nolan A, et al. (February 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". International Journal of Andrology. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.
Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis PC (June 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". International Journal of Andrology. 25 (3): 153–158. doi:10.1046/j.1365-2605.2002.00340.x. PMID 12031043.
Dada R, Gupta NP, Kucheria K (2003). "Cryptorchidism and AZF microdeletion". Asian Journal of Andrology. 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 Journal of Andrology. 4 (4): 259–263. PMID 12508125.
Richard SM, Knuutila S, Peltomäki P, Bianchi MS, Bianchi NO (April 2003). "Y chromosome instability in lymphoproliferative disorders". Mutation Research. 525 (1–2): 103–107. doi:10.1016/S0027-5107(03)00007-1. PMID 12650910.
Raicu F, Popa L, Apostol P, Cimponeriu D, Dan L, Ilinca E, et al. (2003). "Screening for microdeletions in human Y chromosome--AZF candidate genes and male infertility". Journal of Cellular and Molecular Medicine. 7 (1): 43–48. doi:10.1111/j.1582-4934.2003.tb00201.x. PMC 6740091. PMID 12767260.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. (June 2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–837. Bibcode:2003Natur.423..825S. doi:10.1038/nature01722. PMID 12815422.
Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN (August 2003). "Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions". Human Reproduction. 18 (8). Oxford, England: 1660–1665. doi:10.1093/humrep/deg348. PMID 12871878.
Lee KH, Song GJ, Kang IS, Kim SW, Paick JS, Chung CH, et al. (2003). "Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome". Reproduction, Fertility, and Development. 15 (1–2): 129–133. doi:10.1071/RD03002. PMID 12895410.
Frydelund-Larsen L, Vogt PH, Leffers H, Schadwinkel A, Daugaard G, Skakkebaek NE, et al. (September 2003). "No AZF deletion in 160 patients with testicular germ cell neoplasia". Molecular Human Reproduction. 9 (9): 517–521. doi:10.1093/molehr/gag069. PMID 12900510.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000114374 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] 1 2 "Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)".

[Luddi_2009-6] Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, et al. (February 2009). "Spermatogenesis in a man with complete deletion of USP9Y". The New England Journal of Medicine. 360 (9): 881–885. doi:10.1056/NEJMoa0806218. PMID 19246359.

[Tyler-Smith_2009-7] Tyler-Smith C, Krausz C (February 2009). "The Will-o'-the-Wisp of Genetics—Hunting for the Azoospermia Factor Gene". The New England Journal of Medicine. 360 (9): 925–927. doi:10.1056/NEJMe0900301. PMC 2700876. PMID 19246366.

USP9Y

Clinical significance

References

Further reading