InnateDB Protein
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IDBP-237889.7
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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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GEMIN2
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Protein Name
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gem (nuclear organelle) associated protein 2
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Synonyms
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SIP1; SIP1-delta;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379548
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InnateDB Gene
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IDBG-5223 (GEMIN2)
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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:18984161, ECO:0000269PubMed:9323129}.
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Subcellular Localization |
Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. 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 35 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
35
[view]
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Protein-Protein |
32
[view]
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Protein-DNA |
3
[view]
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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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Predicted by orthology |
Total |
2 [view]
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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 |
O14893
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PhosphoSite |
PhosphoSite-O14893
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
8487
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UniGene |
Hs.722259
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RefSeq |
NP_001009183
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HUGO |
HGNC:10884
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OMIM |
602595
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CCDS |
CCDS41946
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HPRD |
03999
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IMGT |
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EMBL |
AB037701
AB037702
AB037703
AF027150
AJ250932
AJ250933
AJ250934
AJ250935
AJ250936
AJ250937
AJ250938
AJ250939
AK313947
BC104968
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GenPept |
AAB82297
AAI04969
BAB03508
BAB03509
BAB03510
BAG36665
CAC16117
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