InnateDB Protein
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IDBP-233260.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GEMIN8
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Protein Name
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gem (nuclear organelle) associated protein 8
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000381398
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InnateDB Gene
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IDBG-45453 (GEMIN8)
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Protein Structure
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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}.
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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.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NWZ8
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PhosphoSite |
PhosphoSite-Q9NWZ8
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TrEMBL |
H7BYE2
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UniProt Splice Variant |
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Entrez Gene |
54960
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UniGene |
Hs.592237
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RefSeq |
NP_001035945
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HUGO |
HGNC:26044
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OMIM |
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CCDS |
CCDS14159
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HPRD |
06533
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IMGT |
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EMBL |
AC003035
AK000521
AK125062
BC003607
BC014324
BC020785
CH471074
CR457241
DQ224033
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GenPept |
AAH03607
AAH14324
AAH20785
ABB46495
BAA91227
BAC86038
CAG33522
EAW98851
EAW98852
EAW98855
EAW98856
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