GEMIN8
Description
The GEMIN8 (gem nuclear organelle associated protein 8) is a protein-coding gene located on chromosome X.
Gemin-8, also known as Gem-associated protein 8, is a protein encoded by the GEMIN8 gene in humans. It is a component of the SMN complex, which is vital for the assembly of snRNPs (small nuclear ribonucleoproteins) in the cytoplasm and the splicing of pre-mRNA in the nucleus. Gemin-8 directly interacts with SMN1, GEMIN6, and GEMIN7, facilitating their association within the complex. This protein is located in both the cytoplasm and the nucleus, specifically within nuclear Gemini of Cajal bodies (gems). Three transcript variants encoding the same protein have been identified for this gene.
The SMN complex is essential for the assembly of small nuclear ribonucleoproteins (snRNPs), which are the building blocks of the spliceosome. This complex plays a crucial role in the splicing of pre-messenger RNA (pre-mRNA) within cells. Most snRNPs contain a common set of seven Sm proteins (SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, and SNRPG) that form a ring-like structure around the Sm site of a small nuclear RNA. This assembly forms the core snRNP. In the cytoplasm, the five Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF, and SNRPG are held inactive in a complex called the 6S pICln-Sm complex. The chaperone protein CLNS1A controls the assembly of the core snRNP. To assemble a core snRNP, the SMN complex takes the trapped five Sm proteins from CLNS1A, forming an intermediate complex. When a snRNA binds to this intermediate, it displaces the SMN complex, allowing the remaining two Sm proteins, SNRPD3 and SNRPB, to bind and complete the core snRNP assembly.
GEMIN8 is also known as FAM51A1.
