RBMY1A1

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

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[1] Bend Yq11.223 Početak 21,511,372 bp[1] Kraj 21,549,326 bp[1]
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
Vrste	Čovjek	Miš
Entrez	5940	n/a
Ensembl	ENSG00000234414	n/a
UniProt	P0DJD3	n/a
RefSeq (mRNK)	NM_005058 NM_001320944 NM_001320945	n/a
RefSeq (bjelančevina)	NP_001307873 NP_001307874 NP_005049 NP_001006120 NP_001307878 NP_001307879	n/a
Lokacija (UCSC)	Chr Y: 21.51 – 21.55 Mb	n/a
PubMed pretraga	[2]	n/a
Wikipodaci
Pogledaj/uredi – čovjek

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

1. GRCh38: Ensembl release 89: ENSG00000234414 - Ensembl, maj 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
5. "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.