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; OMA:GEMIN8 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 14,006,726 bp[1] End 14,029,893 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F5 Start 164,953,450 bp[2] End 164,973,508 bp[2]
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 [3] [4]
Wikidata
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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]