GEMIN8

Gem-associated protein 8 (Gemin-8) is a protein that in humans is encoded by the GEMIN8 gene.[5][6]

GEMIN8
Identifiers
Aliases	GEMIN8, FAM51A1, gem nuclear organelle associated protein 8
External IDs	OMIM: 300962 MGI: 2384300 HomoloGene: 9882 GeneCards: GEMIN8
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 14,008,279 bp[1] End 14,029,893 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F5 Start 166,170,454 bp[2] End 166,190,512 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • SMN-Sm protein complex • cell nucleus • Gemini of coiled bodies • nucleoplasm • cytosol • SMN complex Biological process • mRNA processing • RNA splicing • nuclear import • 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: 166.17 – 166.19 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

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.