| Gene Symbol |
GEMIN8
|
| Entrez Gene |
54960
|
| Alt Symbol |
FAM51A1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
gem (nuclear organelle) associated protein 8
|
| Other Description |
family with sequence similarity 51, member A1|gem-associated protein 8|gemin-8
|
| Swissprots |
Q6ZV27 Q2LJ66 C4AMC4 Q9NWZ8
|
| Accessions |
EAW98851 EAW98852 EAW98853 EAW98854 EAW98855 EAW98856 Q9NWZ8 AK000521 BAA91227 AK095002 AK125062 BAC86038 BC003607 AAH03607 BC014324 AAH14324 BC020785 AAH20785 BX386466 CR457241 CAG33522 DQ224033 ABB46495 JF432848 ADZ16065 XM_005274555 XP_005274612 XR_950464 XR_950465 XR_950466 XR_950467 NM_001042479 NP_001035944 NM_001042480 NP_001035945 NM_017856 NP_060326
|
| 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:0000269|PubMed:17023415, ECO:0000269|PubMed:18984161}.
|
| Subcellular Location |
Nucleus, gem {ECO:0000269|PubMed:16434402}. Cytoplasm {ECO:0000269|PubMed: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.
|
| Top Pathways |
RNA transport
|