RBMY1A1

RBMY1A1
Dostupne strukture
PDB	Pretraga Human UniProta: PDBe RCSB
Spisak PDB ID kodova
	2FY1
Identifikatori
Aliasi	RBMY1A1
Vanjski ID-jevi	OMIM: 400006 HomoloGene: 121598 GeneCards: RBMY1A1
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	21,549,326 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • mRNA binding; • vezivanje sa RNK; • nucleic acid binding;
Ćelijska komponenta	• jedro; • nuclear speck;
Biološki proces	• mRNA processing; • regulation of alternative mRNA splicing, via spliceosome; • Prerada RNK; • mRNA cis splicing, via spliceosome;
	Izvori:Amigo / QuickGO
Ortolozi
	5940
	n/a
	ENSG00000234414
	n/a
	P0DJD3
	n/a
	NM_005058; NM_001320944; NM_001320945
	n/a
NP_001307873; NP_001307874; NP_005049; NP_001006120; NP_001307878;
	NP_001307879
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Protein RNK-vezujućeg motiva hromosoma Y, porodica 1, član 2 je protein, koji je kod ljudi kodiran genom RBMY1A1.^[3]^[4]^[5]

Ovaj gen kodira protein koji sadrži motiv koji veže RNK na N-kraju i četiri SRGY (serin, arginin, glicin, tirozin) boksa na C-kraju. Višestruke kopije ovog gena nalaze se u AZFb azoospermijskom faktoru u području Y.hromosoma, a smatra se da je kodirani protein uključen u spermatogenezu. Većina kopija ovog lokusa su pseudogenski, iako šest vrlo sličnih kopija imaju ORF-ove pune dužine i smatraju se funkcionalnima. Četiri funkcionalne kopije ovog gena nalaze se u inverznom ponavljanju IR2; dvije funkcionalne kopije ovog gena nalaze se u palindromu P3, zajedno s dvije kopije PTPN13-sličnog Y-vezanog. Alternativna prerada RNK transkripata rezultira njihovim dvjema varijantama koje kodiraju različite proteine.^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000234414 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, et al. (Jan 1994). "A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis". Cell. 75 (7): 1287–95. doi:10.1016/0092-8674(93)90616-X. PMID 8269511.
^ Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S, Yen PH (Aug 1998). "Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene". Genomics. 49 (2): 283–9. doi:10.1006/geno.1998.5255. PMID 9598316.
^ ^a ^b "Entrez Gene: RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1".

Dopunska literatura

Lavery R, Glennon M, Houghton J, et al. (2007). "Investigation of DAZ and RBMY1 gene expression in human testis by quantitative real-time PCR". Arch. Androl. 53 (2): 71–3. doi:10.1080/01485010600915228. PMID 17453684.
Skrisovska L, Bourgeois CF, Stefl R, et al. (2007). "The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction". EMBO Rep. 8 (4): 372–9. doi:10.1038/sj.embor.7400910. PMC 1852761. PMID 17318228.
Lindtner S, Zolotukhin AS, Uranishi H, et al. (2007). "RNA-binding motif protein 15 binds to the RNA transport element RTÉ and provides a direct link to the NXF1 export pathway". J. Biol. Chem. 281 (48): 36915–28. doi:10.1074/jbc.M608745200. PMID 17001072.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Tsuei DJ, Hsu HC, Lee PH, et al. (2004). "RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts". Oncogene. 23 (34): 5815–22. doi:10.1038/sj.onc.1207773. PMID 15184870.
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.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Tsuei DJ, Chang MH, Chen PJ, et al. (2003). "Characterization of integration patterns and flanking cellular sequences of hepatitis B virus in childhood hepatocellular carcinomas". J. Med. Virol. 68 (4): 513–21. doi:10.1002/jmv.10240. PMID 12376959.
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.
Pellizzoni L, Charroux B, Rappsilber J, et al. (2001). "A functional interaction between the survival motor neuron complex and RNA polymerase II". J. Cell Biol. 152 (1): 75–85. doi:10.1083/jcb.152.1.75. PMC 2193649. PMID 11149922.
Elliott DJ, Bourgeois CF, Klink A, et al. (2000). "A mammalian germ cell-specific RNA-binding protein interacts with ubiquitously expressed proteins involved in splice site selection". Proc. Natl. Acad. Sci. U.S.A. 97 (11): 5717–22. doi:10.1073/pnas.97.11.5717. PMC 18499. PMID 10823932.
Venables JP, Elliott DJ, Makarova OV, et al. (2000). "RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing". Hum. Mol. Genet. 9 (5): 685–94. doi:10.1093/hmg/9.5.685. PMID 10749975.
Elliott DJ, Oghene K, Makarov G, et al. (1998). "Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development". J. Cell Sci. 111 (9): 1255–65. PMID 9547301.
Prosser J, Inglis JD, Condie A, et al. (1997). "Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene". Mamm. Genome. 7 (11): 835–42. doi:10.1007/s003359900246. PMID 8875892.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000234414 - Ensembl, maj 2017

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

[pmid8269511-3] Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, et al. (Jan 1994). "A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis". Cell. 75 (7): 1287–95. doi:10.1016/0092-8674(93)90616-X. PMID 8269511.

[pmid9598316-4] Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S, Yen PH (Aug 1998). "Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene". Genomics. 49 (2): 283–9. doi:10.1006/geno.1998.5255. PMID 9598316.

[entrez-5] "Entrez Gene: RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1".

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[5]

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