GEMIN8 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0000387Biological processspliceosomal snRNP assembly
GO_0097504Cellular componentGemini of coiled bodies
GO_0034719Cellular componentSMN-Sm protein complex
GO_0005654Cellular componentnucleoplasm
GO_0005829Cellular componentcytosol
GO_0032797Cellular componentSMN complex
GO_0005737Cellular componentcytoplasm
GO_0005634Cellular componentnucleus
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameGEMIN8
Protein nameGem nuclear organelle associated protein 8
Gem-associated protein 8 (Gemin-8) (Protein FAM51A1)
SynonymsFAM51A1
DescriptionFUNCTION: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and 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 (Sm core). 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. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate. Binding of snRNA inside 5Sm triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. .

AccessionsENST00000398355.7
H7BYE2
ENST00000380523.8
ENST00000332885.7
ENST00000680255.1
Q9NWZ8
ENST00000477386.2