Alternative titles; symbols
HGNC Approved Gene Symbol: SMNDC1
Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,290,730-110,304,920 (from NCBI)
Talbot et al. (1998) identified, sequenced, and mapped a human SMN1 (600354) paralog, which they referred to as SMN-related protein (SMNR). The SMNR gene encodes a novel protein of 239 amino acids that had recently been identified as a constituent of the spliceosome complex and designated SPF30 by Neubauer et al. (1998). Significant similarity to the SMN protein was apparent only within a central region of SMNR that represents a tudor domain. Northern blot analysis showed that SMNR is differentially expressed with abundant levels in skeletal muscle. SMNR localized to the nucleus. Talbot et al. (1998) noted that SMN orthologs had been identified in the nematode C. elegans and in the fission yeast S. pombe, suggesting a highly conserved or 'housekeeping' function for the gene.
Talbot et al. (1998) mapped the SMNR gene to chromosome 10q23 by PCR analysis of a panel of somatic cell hybrids, followed by identification of an STS that had been mapped to the Whitehead Institute Radiation Hybrid Panel corresponding to the 10q linkage group.
Talbot et al. (1998) found that overexpression of SMNR as a fusion protein in HeLa cells in culture induced dose-dependent apoptosis with positive TUNEL staining, suggesting a role for SMNR as a proapoptotic factor.
Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A., Mann, M. Mass spectrometry and EST-database searching allows characterisation of the multi-protein spliceosome complex. Nature Genet. 20: 46-50, 1998. [PubMed: 9731529] [Full Text: https://doi.org/10.1038/1700]
Talbot, K., Miguel-Aliaga, I., Mohaghegh, P., Ponting, C. P., Davies, K. E. Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Hum. Molec. Genet. 7: 2149-2156, 1998. [PubMed: 9817934] [Full Text: https://doi.org/10.1093/hmg/7.13.2149]