InnateDB Protein
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IDBP-55080.6
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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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GEMIN5
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Protein Name
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gem (nuclear organelle) associated protein 5
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Synonyms
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GEMIN-5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000285873
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InnateDB Gene
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IDBG-55078 (GEMIN5)
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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. GEMIN5 acts as the snRNA-binding protein of the SMN complex. {ECO:0000269PubMed:11714716, ECO:0000269PubMed:16857593, ECO:0000269PubMed:18984161}.
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Subcellular Localization |
Nucleus, nucleoplasm {ECO:0000269PubMed:11714716}. Nucleus, gem {ECO:0000269PubMed:11714716}. Cytoplasm {ECO:0000269PubMed:11714716}. 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.
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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 48 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
48
[view]
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Protein-Protein |
48
[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 |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
IPR020472
G-protein beta WD-40 repeat
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PFAM |
PF00400
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PRINTS |
PR00320
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q8TEQ6
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PhosphoSite |
PhosphoSite-Q8TEQ6
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TrEMBL |
Q58EZ8
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UniProt Splice Variant |
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Entrez Gene |
25929
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UniGene |
Hs.483921
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RefSeq |
NP_056280
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HUGO |
HGNC:20043
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OMIM |
607005
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CCDS |
CCDS4330
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HPRD |
06109
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IMGT |
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EMBL |
AC008421
AK022748
AK074066
AL117665
AY063750
BC008776
BC014147
BC036894
BC113614
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GenPept |
AAH08776
AAH14147
AAH36894
AAI13615
AAL38980
BAB14222
BAB84892
CAB56035
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