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GEMIN8
Identifiers
Aliases	GEMIN8, FAM51A1, gem nuclear organelle associated protein 8
External IDs	OMIM: 300962; MGI: 2384300; HomoloGene: 9882; GeneCards: GEMIN8; OMA:GEMIN8 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp22.2 Start 14,006,726 bp End 14,029,893 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X F5 Start 164,953,450 bp End 164,973,508 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube left ovary C1 segment right ovary tibial nerve body of uterus Descending thoracic aorta left lobe of thyroid gland right lobe of thyroid gland left uterine tube Top expressed in zygote embryo ventricular zone tail of embryo embryo genital tubercle Rostral migratory stream dentate gyrus of hippocampal formation granule cell right kidney neural layer of retina More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm SMN-Sm protein complex nucleus gemini of coiled bodies nucleoplasm cytosol SMN complex Biological process mRNA processing RNA splicing import into nucleus spliceosomal snRNP assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54960 237221 Ensembl ENSG00000046647 ENSMUSG00000040621 UniProt Q9NWZ8 Q8BHE1 RefSeq (mRNA) NM_001042479 NM_001042480 NM_017856 NM_146238 NM_001310722 NM_001310724 RefSeq (protein) NP_001035944 NP_001035945 NP_060326 NP_001297651 NP_001297653 NP_666350 Location (UCSC) Chr X: 14.01 – 14.03 Mb Chr X: 164.95 – 164.97 Mb PubMed search
Wikidata
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Gem-associated protein 8 (Gemin-8) is a protein that in humans is encoded by the GEMIN8 gene.

Function

Gemin-8 is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. Gemin-8 binds to both SMN1 and the GEMIN6 / GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000046647 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040621 – 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. ^ "Entrez Gene: gem (nuclear organelle) associated protein 8".
6. Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, Rappsilber J, Pellizzoni L (March 2006). "Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly". J. Biol. Chem. 281 (12): 8126–34. doi:10.1074/jbc.M512243200. PMID 16434402.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Carissimi C, Saieva L, Gabanella F, Pellizzoni L (2006). "Gemin8 is required for the architecture and function of the survival motor neuron complex". J. Biol. Chem. 281 (48): 37009–16. doi:10.1074/jbc.M607505200. PMID 17023415.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

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