| Gene Symbol |
GEMIN4
|
| Entrez Gene |
50628
|
| Alt Symbol |
HC56, HCAP1, HHRF-1, p97
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
gem (nuclear organelle) associated protein 4
|
| Other Description |
HCC-associated protein 1|component of gems 4|gem-associated protein 4|gemin-4
|
| Swissprots |
Q9UG32 Q9Y4Q2 P57678 Q9NZS7
|
| Accessions |
AAG24546 EAW90653 EAW90654 P57678 AF173856 AAF35283 AF177341 AAG17985 AK302722 BAG63941 AL080150 CAB45743 AL080167 CAB45755 BC020062 AAH20062 BC032084 BC036024 DB455185 EU832469 ACE87641 XM_005256667 XP_005256724 XM_005256668 XP_005256725 XM_005256670 XP_005256727 XM_011523910 XP_011522212 XM_011523911 XP_011522213 XM_011523912 XP_011522214 XM_011523913 XP_011522215 NM_015721 NP_056536
|
| 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}.
|
| Subcellular Location |
Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.
|
| Top Pathways |
RNA transport
|