Gem-associated protein 6

GEMIN6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y96
Identifiers
Aliases	GEMIN6, gem nuclear organelle associated protein 6
External IDs	OMIM: 607006; MGI: 1914492; HomoloGene: 11711; GeneCards: GEMIN6; OMA:GEMIN6 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p22.1 Start 38,751,534 bp[1] End 38,785,002 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E3 Start 80,531,870 bp[2] End 80,535,926 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii right testis left testis islet of Langerhans oocyte mucosa of transverse colon right adrenal gland bronchial epithelial cell right adrenal cortex right lobe of liver Top expressed in blastocyst morula yolk sac proximal tubule placenta limb spermatocyte quadriceps femoris muscle bone marrow neural tube More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm SMN complex SMN-Sm protein complex cytosol nuclear body nucleus nucleoplasm gemini of coiled bodies Biological process mRNA splicing, via spliceosome mRNA processing spliceosomal complex assembly RNA splicing spliceosomal snRNP assembly import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79833 67242 Ensembl ENSG00000152147 ENSMUSG00000055760 UniProt Q8WXD5 Q9CX53 RefSeq (mRNA) NM_024775 NM_026053 NM_001355458 RefSeq (protein) NP_079051 NP_080329 NP_001342387 Location (UCSC) Chr 2: 38.75 – 38.79 Mb Chr 17: 80.53 – 80.54 Mb PubMed search [3] [4]
Wikidata
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Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene.^[5][6] The gem-associated proteins are those found in the gems of Cajal bodies.

Function

GEMIN6 is part of a large macromolecular complex, the SMN localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM]^[6]

Interactions

Gem-associated protein 6 has been shown to interact with gem-associated protein 7.^[7][8]

References

Further reading

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 3 March 2023, at 21:05