RBM5
Description
The RBM5 (RNA binding motif protein 5) is a protein-coding gene located on chromosome 3.
RBM5 is a protein encoded by the RBM5 gene in humans. It is an RNA-binding protein involved in the regulation of alternative splicing. The gene is located on chromosome 11q23.1.
RBM5 is a component of the spliceosome A complex and regulates alternative splicing of numerous mRNAs. It influences splice site pairing following the recruitment of U1 and U2 snRNPs to the 5' and 3' splice sites of introns. RBM5 can both positively and negatively regulate apoptosis by controlling the alternative splicing of genes involved in this process, including FAS and CASP2/caspase-2. For FAS, it promotes the exclusion of exon 6, resulting in a soluble form of FAS that inhibits apoptosis. For CASP2/caspase-2, it promotes the exclusion of exon 9, leading to a catalytically active form of CASP2/caspase-2 that induces apoptosis.
RBM5 is also known as G15, H37, LUCA-15, LUCA15, RMB5.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure, X-linked, 2
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- spermatogenic failures 50
- spermatogenic failure 48
- spermatogenic failure 25
- spermatogenic failure 22
- spermatogenic failure 23
- spermatogenic failure 52
