GEMIN8

GEMIN8
Identifiers
AliasesGEMIN8, FAM51A1, gem nuclear organelle associated protein 8
External IDsMGI: 2384300 HomoloGene: 9882 GeneCards: GEMIN8
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.2Start14,008,279 bp[1]
End14,029,893 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr X: 166.17 – 166.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000046647 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040621 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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. 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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