Alternative titles; symbols
HGNC Approved Gene Symbol: RBMS1
Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38) : 2:160,272,151-160,493,807 (from NCBI)
The RBMS1 gene encodes multiple isoforms that all contain an RNP1 RNA-binding motif and other consensus sequences required for DNA binding (Haigermoser et al., 1996).
Expression of the protooncogene MYC (190080) is delicately regulated due to its central role in cell proliferation and differentiation. Negishi et al. (1994) noted that a 21-bp sequence 5-prime of MYC serves as both an origin of replication and as a transcriptional enhancer and is recognized by a MYC protein complex. By Southwestern blotting of a cDNA expression library, Negishi et al. (1994) identified a protein that bound to the single-stranded DNA of the origin/enhancer element and designated it MSSP1.
Takai et al. (1994) identified MSSP2 by using MSSP1 to probe a human placenta cDNA library. The predicted 389-amino acid protein contains 2 copies of the RNP1 RNA-binding motif.
From a human fibroblast cDNA library, Kanaoka and Nojima (1994) independently isolated an MSSP1 homolog that they designated SCR2 for 'suppressor of cdc2 (cdc13) with RNA binding motif.' Northern blot analysis showed that SCR2 was expressed as multiple mRNAs in most cell lines tested.
By screening human genomic libraries, Haigermoser et al. (1996) found 2 MSSP genes, which they designated gene 1 and gene 2. The organization of gene 1 suggested that it is a processed retropseudogene. Haigermoser et al. (1996) determined that MSSP1, MSSP2, and MSSP3, as well as SCR2 and YC2, are derived by alternative splicing of MSSP gene 2 (RBMS1).
Haigermoser et al. (1996) reported that the RBMS1 gene, which they called MSSP gene 2, is organized into 16 exons, including 2 alternative first exons, and spans more than 60 kb. The promoter lacks consensus sequences for TATA and CCAAT boxes, is GC rich, and contains numerous potential transcription factor binding elements.
Gross (2016) mapped the RBMS1 gene to chromosome 2q24.2 based on an alignment of the RBMS1 sequence (GenBank BC012993) with the genomic sequence (GRCh38).
Kanaoka and Nojima (1994) presented findings suggesting that SCR2 and SCR3 (602387) suppress yeast cdc2 kinase and cdc13 cyclin mutants by inducing translation of cdc2.
Takai et al. (1994) reported that both RNP1 motifs of MSSP2 appeared to be required for DNA-binding activity. They found that MSSP2 bound both single- and double-stranded DNA and promoted DNA replication of an SV40-derived plasmid containing the MSSP2-binding region.
Hubberten et al. (2019) found that knockdown of long splice variants of the long noncoding RNA CDKN2BAS1 (613149) in HEK293 and HeLa cells decreased the transcript levels of RBMS1. Western blot analysis showed that RBMS1 protein content was also reduced following knockdown of CDKN2BAS1 long variants. RNA immunoprecipitation demonstrated that RBMS1 physically interacted with CDKN2BAS1 transcripts.
Gross, M. B. Personal Communication. Baltimore, Md. 3/24/2016.
Haigermoser, C., Fujimoto, M., Iguchi-Ariga, S. M. M., Ariga, H. Cloning and characterization of the genomic DNA of the human MSSP genes. Nucleic Acids Res. 24: 3846-3857, 1996. [PubMed: 8871567] [Full Text: https://doi.org/10.1093/nar/24.19.3846]
Hubberten, M., Bochenek, G., Chen, H., Hasler, R., Wiehe, R., Rosenstiel, P., Jepsen, S., Dommisch, H., Schaefer, A. S. Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1. Europ. J. Hum. Genet. 27: 80-89, 2019. [PubMed: 30108282] [Full Text: https://doi.org/10.1038/s41431-018-0210-7]
Kanaoka, Y., Nojima, H. SCR: novel human suppressors of cdc2/cdc13 mutants of Schizosaccharomyces pombe harbour motifs for RNA binding proteins. Nucleic Acids Res. 22: 2687-2693, 1994. [PubMed: 8041632] [Full Text: https://doi.org/10.1093/nar/22.13.2687]
Negishi, Y., Nishita, Y., Saegusa, Y., Kakizaki, I., Galli, I., Kihara, F., Tamai, K., Miyajima, N., Iguchi-Ariga, S. M. M., Ariga, H. Identification and cDNA cloning of single-stranded DNA binding proteins that interact with the region upstream of the human c-myc gene. Oncogene 9: 1133-1143, 1994. [PubMed: 8134115]
Takai, T., Nishita, Y., Iguchi-Ariga, S. M. M., Ariga, H. Molecular cloning of MSSP-2, a c-myc gene single-strand binding protein: characterization of binding specificity and DNA replication activity. Nucleic Acids Res. 22: 5576-5581, 1994. [PubMed: 7838710] [Full Text: https://doi.org/10.1093/nar/22.25.5576]