| Ensembl ID | Symbol | Entrez ID | RBD | RBPome | PRI | Expresion | Pathway | Phenotype | Paralog | Ortholog | GO |
|---|---|---|---|---|---|---|---|---|---|---|---|
Survival motor neuron (SMN) interacting protein 1 (SIP1) interacts with SMN protein and plays a crucial role in the biogenesis of spliceosomes. There is evidence that the protein is linked to spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis(ALS) in [1].
This entry includes Gem2 (also known as SIP1) from animals, Brr1 from budding yeasts and yip11/yip12 from fission yeasts. Gem2 is part of the survival of motor neurons (SMN) complex that is involved in UsnRNP assembly in the cytoplasm and mediates nuclear import of the assembled UsnRNP [PUBMED:18621711].
Aerbajinai W, Ishihara T, Arahata K, Tsukahara T; , Int J Biochem Cell Biol 2002;34:699-707.: Increased expression level of the splicing variant of SIP1 in motor neuron diseases. PUBMED:11943600 EPMC:11943600.
