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RBMY1A1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2FY1
Identifiers
Aliases	RBMY1A1, RBM, RBM1, RBM2, RBMY, RBMY1C, YRRM1, YRRM2, RNA binding motif protein, Y-linked, family 1, member A1, RNA binding motif protein Y-linked family 1 member A1
External IDs	OMIM: 400006; HomoloGene: 121598; GeneCards: RBMY1A1; OMA:RBMY1A1 - orthologs
Gene location (Human) Chr. Y chromosome (human) Band Yq11.223 Start 21,511,372 bp End 21,549,326 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad right testis left testis human kidney renal cortex placenta canal of the cervix fundus blood n/a More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding mRNA binding RNA binding nucleic acid binding Cellular component nucleus nuclear speck Biological process mRNA processing regulation of alternative mRNA splicing, via spliceosome RNA splicing mRNA cis splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5940 n/a Ensembl ENSG00000234414 n/a UniProt P0DJD3 n/a RefSeq (mRNA) NM_005058 NM_001320944 NM_001320945 n/a RefSeq (protein) NP_001307873 NP_001307874 NP_005049 NP_001006120 NP_001307878 NP_001307879 n/a Location (UCSC) Chr Y: 21.51 – 21.55 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. Alternative splicing of transcripts results in two transcript variants that encode different proteins.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000234414 – Ensembl, May 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. S2CID 24678568.
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".

Further reading

• 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. S2CID 22899385.
• 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. S2CID 20055243.
• 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. Bibcode:2003Natur.423..825S. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 26869562.
• 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. Bibcode:2000PNAS...97.5717E. 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. doi:10.1242/jcs.111.9.1255. 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. S2CID 23907707.

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