Entrez Summary: The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010].
UniProt Summary: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. {ECO:0000269|PubMed:17023415, ECO:0000269|PubMed:18984161}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
SMN complex
Gemini of coiled bodies
SMN-Sm protein complex
spliceosomal snRNP assembly
import into nucleus
ribonucleoprotein complex assembly
ribonucleoprotein complex subunit organization
nucleocytoplasmic transport
nuclear transport
mRNA splicing, via spliceosome
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile
RNA splicing, via transesterification reactions
RNA splicing
ribonucleoprotein complex biogenesis
mRNA processing
mRNA metabolic process
cellular protein-containing complex assembly
RNA processing
intracellular transport
protein-containing complex assembly
RNA metabolic process
establishment of localization in cell
protein-containing complex subunit organization
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)