GEMIN8

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)
End	14,029,893 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	164,973,508 bp
RNA expression pattern
	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
	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
	54960
	237221
	ENSG00000046647
	ENSMUSG00000040621
	Q9NWZ8
	Q8BHE1
	NM_001042479; NM_001042480; NM_017856
	NM_146238; NM_001310722; NM_001310724
	NP_001035944; NP_001035945; NP_060326
	NP_001297651; NP_001297653; NP_666350
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000046647 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040621 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: gem (nuclear organelle) associated protein 8".
^ 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.

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000046647 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: gem (nuclear organelle) associated protein 8".

[pmid16434402-6] 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.

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Function

References

Further reading