BPY2

BPY2
Identifikatori
Aliasi	BPY2
Vanjski ID-jevi	OMIM: 400013 GeneCards: BPY2
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	23,005,465 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • HECT domain binding;
Ćelijska komponenta	• jedro;
Biološki proces	• Spermatogeneza; • single fertilization;
	Izvori:Amigo / QuickGO
Ortolozi
	9083
	n/a
	ENSG00000183753
	n/a
	O14599
	n/a
	NM_004678
	n/a
	NP_001002760
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Testis-specifični osnovni protein Y 2, znan i kao osnovnonabijeni, Y-vezani 2 je protein koji je kod ljudi kodiran genom BPY2, na hromosomu Y.^[3]

Funkcija

Ovaj gen nalazi se u nerekombinirajućem dijelu hromosoma Y i posebno je izražen u sjemenicima. Kodirani protein stupa u interakciju s ligaznim proteinom ubikvitina E3A i može biti uključen u razvoj muških klicnih ćelija i neplodnost muškaraca. Na hromosomu Y nalaze se tri gotovo identične kopije ovog gena; dvije su dio palindromnog regiona. Ovaj zapis predstavlja kopiju izvan palindromne regije.^[4]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183753 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lahn BT, Page DC (oktobar 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. PMID 9381176.
^ "Entrez Gene: RPS4Y1 ribosomal protein S4, Y-linked 1".

Vanjski linkovi

Lokacija ljudskog genoma BPY2 i stranica sa detaljima o genu BPY2 u UCSC Genome Browseru.

Dopunska literartura

Repping S, van Daalen SK, Korver CM, et al. (2004). "A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region". Genomics. 83 (6): 1046–52. doi:10.1016/j.ygeno.2003.12.018. PMID 15177557.
Tse JY, Wong EY, Cheung AN, et al. (2003). "Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility". Biol. Reprod. 69 (3): 746–51. doi:10.1095/biolreprod.103.015792. PMID 12724276.
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.
Choi J, Koh E, Suzuki H, et al. (2007). "Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype". Int. J. Urol. 14 (5): 431–5. doi:10.1111/j.1442-2042.2007.01741.x. PMID 17511727.
Yang Y, Ma M, Li L, et al. (2009). "Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population". International Journal of Andrology. 33 (5): 745–54. doi:10.1111/j.1365-2605.2009.01015.x. PMID 20039973.
Wong EY, Tse JY, Yao KM, et al. (2004). "Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein". Biol. Reprod. 70 (3): 775–84. doi:10.1095/biolreprod.103.018531. PMID 14627543.
Wong EY, Tse JY, Yao KM, et al. (2002). "VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A". Biochem. Biophys. Res. Commun. 296 (5): 1104–11. doi:10.1016/S0006-291X(02)02040-5. PMID 12207887.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183753 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9381176-3] Lahn BT, Page DC (oktobar 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. PMID 9381176.

[entrez_9083-4] "Entrez Gene: RPS4Y1 ribosomal protein S4, Y-linked 1".

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