Homo sapiens Protein: GEMIN8
Summary
InnateDB Protein IDBP-233260.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GEMIN8
Protein Name gem (nuclear organelle) associated protein 8
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000381398
InnateDB Gene IDBG-45453 (GEMIN8)
Protein Structure
UniProt Annotation
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:0000269PubMed:17023415, ECO:0000269PubMed:18984161}.
Subcellular Localization Nucleus, gem {ECO:0000269PubMed:16434402}. Cytoplasm {ECO:0000269PubMed: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.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000387 spliceosomal snRNP assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0097504 Gemini of coiled bodies
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NWZ8
PhosphoSite PhosphoSite-Q9NWZ8
TrEMBL H7BYE2
UniProt Splice Variant
Entrez Gene 54960
UniGene Hs.592237
RefSeq NP_001035945
HUGO HGNC:26044
OMIM
CCDS CCDS14159
HPRD 06533
IMGT
EMBL AC003035 AK000521 AK125062 BC003607 BC014324 BC020785 CH471074 CR457241 DQ224033
GenPept AAH03607 AAH14324 AAH20785 ABB46495 BAA91227 BAC86038 CAG33522 EAW98851 EAW98852 EAW98855 EAW98856