Protein-coding gene in the species Homo sapiens
| GEMIN6 |
|---|
 |
| Available structures |
|---|
| PDB | Ortholog search: PDBe RCSB |
|---|
|
|
| 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 | - epiblast
- embryo
- blastocyst
- morula
- primary oocyte
- embryo
- yolk sac
- proximal tubule
- placenta
- ventricular zone
|
| | More reference expression data |
|
|---|
| BioGPS |  | | More reference expression data |
|
|---|
|
| Gene ontology |
|---|
| Molecular function | | | 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 |
|
|
| Wikidata |
| View/Edit Human | View/Edit Mouse |
|
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000152147 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055760 – 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.
- ^ Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (Mar 2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". The Journal of Biological Chemistry. 277 (9): 7540–5. doi:10.1074/jbc.M110141200. PMID 11748230.
- ^ a b "Entrez Gene: GEMIN6 gem (nuclear organelle) associated protein 6".
- ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- ^ Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (Aug 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID 12065586.
Further reading
- Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (Aug 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID 12065586.
- Ma Y, Dostie J, Dreyfuss G, Van Duyne GD (Jun 2005). "The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure". Structure. 13 (6): 883–92. doi:10.1016/j.str.2005.03.014. PMID 15939020.
- Carissimi C, Saieva L, Gabanella F, Pellizzoni L (Dec 2006). "Gemin8 is required for the architecture and function of the survival motor neuron complex". The Journal of Biological Chemistry. 281 (48): 37009–16. doi:10.1074/jbc.M607505200. PMID 17023415.
 | This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it. |
1y96: crystal structure of the Gemin6/Gemin7 heterodimer from the human SMN complex
