Homo sapiens Protein: GEMIN6
Summary
InnateDB Protein IDBP-46964.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GEMIN6
Protein Name gem (nuclear organelle) associated protein 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000281950
InnateDB Gene IDBG-46962 (GEMIN6)
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:11748230, ECO:0000269PubMed:18984161}.
Subcellular Localization Nucleus, nucleoplasm {ECO:0000269PubMed:11748230}. Nucleus, gem {ECO:0000269PubMed:11748230}. Cytoplasm {ECO:0000269PubMed:11748230}. Note=Found both in the nucleoplasm and 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 20 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 20 [view]
Protein-Protein 20 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000245 spliceosomal complex assembly
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0010467 gene expression
GO:0016070 RNA metabolic process
GO:0034660 ncRNA metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0097504 Gemini of coiled bodies
Protein Structure and Domains
PDB ID
InterPro IPR009422 Gemin6
PFAM PF06372
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WXD5
PhosphoSite PhosphoSite-Q8WXD5
TrEMBL
UniProt Splice Variant
Entrez Gene 79833
UniGene Hs.739966
RefSeq NP_079051
HUGO HGNC:20044
OMIM 607006
CCDS CCDS1799
HPRD 06110
IMGT
EMBL AC018693 AF453443 AK027112 AK315627 BC018195 CH471053
GenPept AAH18195 AAL48292 AAY24255 BAB15660 BAG37995 EAX00360