Gem-associated protein 7

GEMIN7
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y96
Identifiers
Aliases	GEMIN7 , SIP3, gem nuclear organelle associated protein 7
External IDs	OMIM: 607419; MGI: 1916981; HomoloGene: 11668; GeneCards: GEMIN7; OMA:GEMIN7 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.32 Start 45,079,195 bp [1] End 45,091,518 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 A3 Start 19,298,871 bp [2] End 19,311,520 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon granulocyte mucosa of ileum tibialis anterior muscle monocyte gastrocnemius muscle muscle of thigh spleen testicle right lobe of liver Top expressed in interventricular septum right kidney granulocyte muscle of thigh embryo embryo yolk sac lip neural tube ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol nuclear body nucleus nucleoplasm SMN complex SMN-Sm protein complex gemini of coiled bodies Biological process mRNA splicing, via spliceosome mRNA processing RNA splicing spliceosomal snRNP assembly import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79760 69731 Ensembl ENSG00000142252 ENSMUSG00000044709 UniProt Q9H840 Q9CWY4 RefSeq (mRNA) NM_001007269 NM_001007270 NM_024707 NM_001319054 NM_001319055 NM_027189 RefSeq (protein) NP_001007270 NP_001007271 NP_001305983 NP_001305984 NP_078983 NP_081465 Location (UCSC) Chr 19: 45.08 – 45.09 Mb Chr 7: 19.3 – 19.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gem-associated protein 7 is a protein that in humans is encoded by the GEMIN7 gene. ^{[5] [6]} The gem-associated proteins are those found in the gems of Cajal bodies.

Function

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. ^[6]

Interactions

Gem-associated protein 7 has been shown to interact with SMN1 ^{[5] [7]} and Gem-associated protein 6. ^{[5] [8]}

References

1. GRCh38: Ensembl release 89: ENSG00000142252 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000044709 – 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.
5. 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): 31957–31962. doi: 10.1074/jbc.M203478200 . PMID   12065586.
6. "Entrez Gene: GEMIN7 gem (nuclear organelle) associated protein 7".
7. 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): 7540–7545. doi: 10.1074/jbc.M110141200 . PMID   11748230.
8. 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): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

Further reading

• 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): 37009–37016. doi: 10.1074/jbc.M607505200 . PMID   17023415.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–968. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Grimmler M, Otter S, Peter C, Müller F, Chari A, Fischer U (Oct 2005). "Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization". Human Molecular Genetics. 14 (20): 3099–3111. doi: 10.1093/hmg/ddi343 . PMID   16159890.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Human Gem-associated protein 7