| Gene Symbol |
GEMIN2
|
| Entrez Gene |
8487
|
| Alt Symbol |
SIP1, SIP1-delta
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
gem (nuclear organelle) associated protein 2
|
| Other Description |
SMN interacting protein 1-delta|component of gems 2|gem-associated protein 2|gemin-2|survival of motor neuron protein interacting protein 1
|
| Swissprots |
O14893 B2R9W8 Q9NS78 Q9NS77 Q9NS79 Q2M3B3 Q9H4F5
|
| Accessions |
CAC16117 CAC16171 EAW65825 EAW65826 EAW65827 EAW65828 EAW65829 EAW65830 O14893 AB037701 BAB03508 AB037702 BAB03509 AB037703 BAB03510 AF027150 AAB82297 AK313947 BAG36665 BC028095 BC104968 AAI04969 CN484054 XM_011537238 XP_011535540 NM_001009182 NP_001009182 NM_001009183 NP_001009183 NM_003616 NP_003607
|
| 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:18984161, ECO:0000269|PubMed:9323129}.
|
| Subcellular Location |
Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.
|
| Top Pathways |
RNA transport
|