Homo sapiens Protein: GEMIN5
Summary
InnateDB Protein IDBP-55080.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GEMIN5
Protein Name gem (nuclear organelle) associated protein 5
Synonyms GEMIN-5;
Species Homo sapiens
Ensembl Protein ENSP00000285873
InnateDB Gene IDBG-55078 (GEMIN5)
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. GEMIN5 acts as the snRNA-binding protein of the SMN complex. {ECO:0000269PubMed:11714716, ECO:0000269PubMed:16857593, ECO:0000269PubMed:18984161}.
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.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
Experimentally validated
Total 48 [view]
Protein-Protein 48 [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
GO:0017069 snRNA binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006461 protein complex assembly
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:0016020 membrane
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 IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain
IPR020472 G-protein beta WD-40 repeat
PFAM PF00400
PRINTS PR00320
PIRSF
SMART SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TEQ6
PhosphoSite PhosphoSite-Q8TEQ6
TrEMBL Q58EZ8
UniProt Splice Variant
Entrez Gene 25929
UniGene Hs.483921
RefSeq NP_056280
HUGO HGNC:20043
OMIM 607005
CCDS CCDS4330
HPRD 06109
IMGT
EMBL AC008421 AK022748 AK074066 AL117665 AY063750 BC008776 BC014147 BC036894 BC113614
GenPept AAH08776 AAH14147 AAH36894 AAI13615 AAL38980 BAB14222 BAB84892 CAB56035