DISEASES

Disease-gene associations mined from literature

Literature on SLU7

SLU7 [ENSP00000297151]

Pre-mRNA-splicing factor SLU7; Required for pre-mRNA splicing as component of the spliceosome . Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation. ECO:0000269|PubMed:12764196, ECO:0000269|PubMed:15181151, ECO:0000269|PubMed:15728250, ECO:0000269|PubMed:28502770,

Synonyms:  SLU7,  SLU7p,  hSLU7,  A0A0C4DGD2,  E5RGM7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM