DISEASES

Disease-gene associations mined from literature

Literature on RBM5

RBM5 [ENSP00000343054]

RNA-binding protein 5; Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis. ECO:0000269|PubMed:12207175, ECO:0000269|PubMed:12581154, ECO:0000269|PubMed:15192330, ECO:0000269|PubMed:16585163,; Belongs to the RBM5/RBM10 family.

Synonyms:  RBM5,  RBM5p,  hRBM5,  A0A024R2U6,  C9J9P7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM