Gem-associated protein 6

GEMIN6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y96
Identifiers
Aliases	GEMIN6 , gem nuclear organelle associated protein 6
External IDs	OMIM: 607006; MGI: 1914492; HomoloGene: 11711; GeneCards: GEMIN6; OMA:GEMIN6 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p22.1 Start 38,751,534 bp [1] End 38,785,002 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 E3 Start 80,531,870 bp [2] End 80,535,926 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii right testis left testis islet of Langerhans oocyte mucosa of transverse colon right adrenal gland bronchial epithelial cell right adrenal cortex right lobe of liver Top expressed in epiblast embryo blastocyst morula primary oocyte embryo yolk sac proximal tubule placenta ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm SMN complex SMN-Sm protein complex cytosol nuclear body nucleus nucleoplasm gemini of coiled bodies Biological process mRNA splicing, via spliceosome mRNA processing spliceosomal complex assembly RNA splicing spliceosomal snRNP assembly import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79833 67242 Ensembl ENSG00000152147 ENSMUSG00000055760 UniProt Q8WXD5 Q9CX53 RefSeq (mRNA) NM_024775 NM_026053 NM_001355458 RefSeq (protein) NP_079051 NP_080329 NP_001342387 Location (UCSC) Chr 2: 38.75 – 38.79 Mb Chr 17: 80.53 – 80.54 Mb PubMed search [3] [4]
Wikidata
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Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene. ^{[5] [6]} The gem-associated proteins are those found in the gems of Cajal bodies.

Function

GEMIN6 is part of a large macromolecular complex, the SMN localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM] ^[6]

Interactions

Gem-associated protein 6 has been shown to interact with gem-associated protein 7. ^{[7] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000152147 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000055760 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (Mar 2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". The Journal of Biological Chemistry. 277 (9): 7540–5. doi: 10.1074/jbc.M110141200 . PMID   11748230.
6. "Entrez Gene: GEMIN6 gem (nuclear organelle) associated protein 6".
7. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
8. Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (Aug 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi: 10.1074/jbc.M203478200 . PMID   12065586.

Further reading

• Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (Aug 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi: 10.1074/jbc.M203478200 . PMID   12065586.
• Ma Y, Dostie J, Dreyfuss G, Van Duyne GD (Jun 2005). "The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure". Structure. 13 (6): 883–92. doi: 10.1016/j.str.2005.03.014 . PMID   15939020.
• Carissimi C, Saieva L, Gabanella F, Pellizzoni L (Dec 2006). "Gemin8 is required for the architecture and function of the survival motor neuron complex". The Journal of Biological Chemistry. 281 (48): 37009–16. doi: 10.1074/jbc.M607505200 . PMID   17023415.