The RNA binding motif
protein 38 (RBM38, also known as RNPC1) plays a pivotal role in regulating a wide range of biological processes, from cell proliferation and cell cycle arrest to cell myogenic differentiation. It was originally recognized as an oncogene, and was frequently found to be amplified in prostate, ovarian and
colorectal cancer,
chronic lymphocytic leukemia, colon
carcinoma,
esophageal cancer, dog
lymphomas and
breast cancer. In the present study, the complete RNPC1 gene was identified in a number of vertebrate genomes, suggesting that RNPC1 exists in all types of vertebrates, including fish, amphibians, birds and mammals. In the different genomes, the gene had a similar 4 exon/3 intron organization, and all the genetic loci were syntenically conserved. The phylogenetic tree demonstrated that the RNPC1 gene from the mammalian, bird, reptile and teleost lineage formed a species-specific cluster. A total of 34 functionally relevant single nucleotide polymorphisms (SNPs), including 14 SNPs causing missense mutations, 8 exonic splicing enhancer SNPs and 12 SNPs causing
nonsense mutations, were identified in the human RNPC1 gene. RNPC1 was found to be expressed in bladder, blood, brain, breast, colorectal, eye, head and neck, lung, ovarian, skin and soft tissue
cancer. In 14 of the 94 tests, an association between RNPC1 gene expression and
cancer prognosis was observed. We found that the association between the expression of RNPC1 and prognosis varied in different types of
cancer, and even in the same type of
cancer from the different databases used. This suggests that the function of RNPC1 in these
tumors may be multidimensional. The sex determining region Y (SRY)-box 5 (Sox5), runt-related
transcription factor 3 (RUNX3), CCAAT displacement
protein 1 (CUTL1), v-rel
avian reticuloendotheliosis viral oncogene homolog (Rel)A,
peroxisome proliferator-activated receptor γ
isoform 2 (PPARγ2) and
activating transcription factor 6 (ATF6) regulatory
transcription factor binding sites were identified in the upstream (promoter) region of the RNPC1 gene, and may thus be involved in the effects of RNPC1 in
tumors.