USP9Y

USP9Y
Identifikatori
Aliasi	USP9Y
Vanjski ID-jevi	OMIM: 400005 MGI: 1313274 HomoloGene: 68408 GeneCards: USP9Y
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	12,860,839 bp
Lokacija gena (miš)
Hrom.	Hromosom Y (miš)
Kraj	1,459,782 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• thiol-dependent deubiquitinase; • GO:0070122 peptidase activity; • cysteine-type peptidase activity; • co-SMAD binding; • hydrolase activity; • cysteine-type endopeptidase activity;
Ćelijska komponenta	• citoplazma;
Biološki proces	• protein deubiquitination; • transforming growth factor beta receptor signaling pathway; • Ćelijska migracija; • BMP signaling pathway; • ubiquitin-dependent protein catabolic process; • Spermatogeneza; • Proteoliza;
	Izvori:Amigo / QuickGO
Ortolozi
	8287
	107868
	ENSG00000114374
	ENSMUSG00000069044
	O00507
	F8VPU6
	NM_004654
	NM_148943
	NP_004645
	NP_683745
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ubikvitin-specifična Y-vezana peptidaza 9 (masnofacetna drozofilska), znana i kao USP9Y, je enzim koji je kod ljudi kodiran genom USP9Y.^[5] Potreban je za proizvodnju sperme. Ovaj enzim je član porodice peptidaza C19 i sličan je ubikvitinspecifičnim proteazama, koje cijepaju ostatak ubikvitina od prekursora koji su spojeni s ubikvitinom i ubikvitiniliranih proteina.

Klinički značaj

Mutacije u ovom genu povezane su sa sindromom sindromom sa samo Sertolijevim ćelijama (SCO) i muškom neplodnošću.^[5]

Gen USP9Y nalazi se na području faktora azospermije (AZF) na hromosomu Y. Muškarci koji imaju oštećenu ili nemaju proizvodnju sperme često imaju |deleciju u AZF regiji, posebno u genu USP9Y, a smatralo se da je USP9Y neophodan za proizvodnju sperme. Međutim, nedavno su prijavljen muškarac i njegov otac koji su imali deletirani USP9Y koji bi mogli proizvesti spermu. Odgovarajući gen prisutan je, ali neaktivan kod običnih čimpanzi i bonoboa.^[6]^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000114374 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000069044 - Ensembl, maj 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.
^ ^a ^b "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, Balestri P, Piomboni P (februar 2009). "Spermatogenesis in a man with complete deletion of USP9Y". N. Engl. J. Med. 360 (9): 881–5. doi:10.1056/NEJMoa0806218. PMID 19246359.
^ Tyler-Smith C, Krausz C (februar 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.

Dopunska literatuta

D'Andrea A, Pellman D (1999). "Deubiquitinating enzymes: a new class of biological regulators". Crit. Rev. Biochem. Mol. Biol. 33 (5): 337–52. doi:10.1080/10409239891204251. PMID 9827704.
Mesco ER, Timiras PS (1992). "Tau-ubiquitin protein conjugates in a human cell line". Mech. Ageing Dev. 61 (1): 1–9. doi:10.1016/0047-6374(91)90002-H. 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. doi:10.1093/hmg/5.7.933. 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. doi:10.1093/hmg/5.11.1695. PMID 8922996.
Lahn BT, Page DC (1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. 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. doi:10.1093/hmg/7.1.97. PMID 9384609.
"Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. 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. doi:10.1093/hmg/9.8.1161. 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. doi:10.1046/j.1365-2605.2002.00326.x. 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. doi:10.1046/j.1365-2605.2002.00340.x. 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. doi:10.1016/S0027-5107(03)00007-1. 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. doi:10.1111/j.1582-4934.2003.tb00201.x. PMC 6740091. 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. doi:10.1093/humrep/deg348. 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. doi:10.1071/RD03002. 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. doi:10.1093/molehr/gag069. PMID 12900510.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000114374 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000069044 - Ensembl, maj 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] "Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)".

[pmid19246359-6] Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P (februar 2009). "Spermatogenesis in a man with complete deletion of USP9Y". N. Engl. J. Med. 360 (9): 881–5. doi:10.1056/NEJMoa0806218. PMID 19246359.

[pmid19246366-7] Tyler-Smith C, Krausz C (februar 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.

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