InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GEMIN8

Summary

InnateDB Protein

IDBP-45457.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GEMIN8

Protein Name

gem (nuclear organelle) associated protein 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000369895

InnateDB Gene

IDBG-45453 (GEMIN8)

Protein Structure

UniProt Annotation

Function

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:0000269PubMed:17023415, ECO:0000269PubMed:18984161}.

Subcellular Localization

Nucleus, gem {ECO:0000269PubMed:16434402}. Cytoplasm {ECO:0000269PubMed:16434402}. Note=Found in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.

Disease Associations

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.