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GEMIN5
Required for the assembly of the SMN complex that 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. GEMIN5 acts as the snRNA-binding protein of the SMN complex. Binds to the 7-methylguanosine cap of RNA molecules. Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability. May play a role in the regulation of protein synthesis via its interaction with ribosomes. Belongs to the WD repeat gemin-5 family. Note: This description may include information from UniProtKB.
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| Protein type: Nuclear receptor co-regulator; RNA processing; RNA splicing; RNA-binding |
| Chromosomal Location of human Ortholog: 5q33.2 |
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Cellular Component:
cytoplasm; cytosol; Gemini of coiled bodies; nuclear body; nucleoplasm; nucleus; SMN complex; SMN-Gemin2 complex; SMN-Sm protein complex
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Molecular Function:
mRNA 3'-UTR binding; protein binding; ribosome binding; RNA 7-methylguanosine cap binding; RNA binding; snRNA binding; U1 snRNA binding; U4 snRNA binding; U4atac snRNA binding
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Biological Process:
mRNA splicing, via spliceosome; protein-containing complex assembly; regulation of translation; spliceosomal snRNP assembly; translation
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Disease: Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
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Reference #:
Q8TEQ6
(UniProtKB)
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Alt. Names/Synonyms: DKFZp586M1824; gem (nuclear organelle) associated protein 5; gem nuclear organelle associated protein 5; Gem-associated protein 5; GEMI5; gemin 5; GEMIN-5; GEMIN5; MGC142174
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Gene Symbols: GEMIN5
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Molecular weight:
168,589 Da
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Basal Isoelectric point:
6.17
Predict pI for various phosphorylation states
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