Gem-associated protein 2

Gem-associated protein 2 (GEMIN2), also called survival of motor neuron protein-interacting protein 1 (SIP1), is a protein that in humans is encoded by the GEMIN2 gene.[5][6][7]

GEMIN2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LEH, 3S6N
Identifiers
Aliases	GEMIN2, SIP1, SIP1-delta, Survival of motor neuron protein-interacting protein 1, gem nuclear organelle associated protein 2
External IDs	OMIM: 602595 MGI: 1913853 HomoloGene: 37827 GeneCards: GEMIN2
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q21.1 Start 39,114,223 bp[1] End 39,136,973 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C1 Start 59,013,393 bp[2] End 59,028,470 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • SMN complex • SMN-Sm protein complex • cytosol • spliceosomal complex • nucleolus • intracellular • cell nucleus • nucleoplasm • cytoplasm • nuclear body • Gemini of coiled bodies Biological process • RNA splicing, via transesterification reactions • mRNA processing • spliceosomal complex assembly • RNA splicing • spliceosomal snRNP assembly • nuclear import Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8487	66603
Ensembl	ENSG00000092208	ENSMUSG00000060121
UniProt	O14893	Q9CQQ4
RefSeq (mRNA)	NM_001009182 NM_001009183 NM_003616	NM_025656
RefSeq (protein)	NP_001009182 NP_001009183 NP_003607	NP_079932
Location (UCSC)	Chr 14: 39.11 – 39.14 Mb	Chr 12: 59.01 – 59.03 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

Gem-associated protein 2 has been shown to interact with DDX20[8][9] and SMN1.[6][10][11]

See also

• Gideon Dreyfuss
• Spinal muscular atrophy

References

1. GRCh38: Ensembl release 89: ENSG00000092208 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000060121 - 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. Fischer U, Liu Q, Dreyfuss G (October 1997). "The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis". Cell. 90 (6): 1023–9. doi:10.1016/S0092-8674(00)80368-2. PMID 9323130.
6. Liu Q, Fischer U, Wang F, Dreyfuss G (October 1997). "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins". Cell. 90 (6): 1013–21. doi:10.1016/S0092-8674(00)80367-0. PMID 9323129.
7. "Entrez Gene: SIP1 survival of motor neuron protein interacting protein 1".
8. Mourelatos, Zissimos; Dostie Josée; Paushkin Sergey; Sharma Anup; Charroux Bernard; Abel Linda; Rappsilber Juri; Mann Matthias; Dreyfuss Gideon (March 2002). "miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs". Genes Dev. 16 (6): 720–8. doi:10.1101/gad.974702. ISSN 0890-9369. PMC 155365. PMID 11914277.
9. Charroux, B; Pellizzoni L; Perkinson R A; Shevchenko A; Mann M; Dreyfuss G (December 1999). "Gemin3: A Novel Dead Box Protein That Interacts with Smn, the Spinal Muscular Atrophy Gene Product, and Is a Component of Gems". J. Cell Biol. 147 (6): 1181–94. doi:10.1083/jcb.147.6.1181. ISSN 0021-9525. PMC 2168095. PMID 10601333.
10. Carnegie, Graeme K; Sleeman Judith E; Morrice Nick; Hastie C James; Peggie Mark W; Philp Amanda; Lamond Angus I; Cohen Patricia T W (May 2003). "Protein phosphatase 4 interacts with the Survival of motor neurons complex and enhances the temporal localisation of snRNPs". J. Cell Sci. 116 (Pt 10): 1905–13. doi:10.1242/jcs.00409. ISSN 0021-9533. PMID 12668731.
11. Meister, G; Bühler D; Laggerbauer B; Zobawa M; Lottspeich F; Fischer U (August 2000). "Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins". Hum. Mol. Genet. 9 (13): 1977–86. doi:10.1093/hmg/9.13.1977. ISSN 0964-6906. PMID 10942426.

Further reading

• Wang Z, Wu X, Friedberg EC (1997). "Molecular mechanism of base excision repair of uracil-containing DNA in yeast cell-free extracts". J. Biol. Chem. 272 (38): 24064–71. doi:10.1074/jbc.272.38.24064. PMID 9295360.
• Zhang WJ, Wu JY (1998). "Sip1, a Novel RS Domain-Containing Protein Essential for Pre-mRNA Splicing". Mol. Cell. Biol. 18 (2): 676–84. doi:10.1128/mcb.18.2.676. PMC 108778. PMID 9447963.
• Charroux B, Pellizzoni L, Perkinson RA, et al. (2000). "Gemin3: A Novel Dead Box Protein That Interacts with Smn, the Spinal Muscular Atrophy Gene Product, and Is a Component of Gems". J. Cell Biol. 147 (6): 1181–94. doi:10.1083/jcb.147.6.1181. PMC 2168095. PMID 10601333.
• Charroux B, Pellizzoni L, Perkinson RA, et al. (2000). "Gemin4: A Novel Component of the Smn Complex That Is Found in Both Gems and Nucleoli". J. Cell Biol. 148 (6): 1177–86. doi:10.1083/jcb.148.6.1177. PMC 2174312. PMID 10725331.
• Helmken C, Wetter A, Rudnik-Schöneborn S, et al. (2000). "An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)". Eur. J. Hum. Genet. 8 (7): 493–9. doi:10.1038/sj.ejhg.5200479. PMID 10909848.
• Meister G, Bühler D, Laggerbauer B, et al. (2000). "Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins". Hum. Mol. Genet. 9 (13): 1977–86. doi:10.1093/hmg/9.13.1977. PMID 10942426.
• Young PJ, Man NT, Lorson CL, et al. (2001). "The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding". Hum. Mol. Genet. 9 (19): 2869–77. doi:10.1093/hmg/9.19.2869. PMID 11092763.
• Selenko P, Sprangers R, Stier G, et al. (2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nat. Struct. Biol. 8 (1): 27–31. doi:10.1038/83014. PMID 11135666.
• Pellizzoni L, Charroux B, Rappsilber J, et al. (2001). "A Functional Interaction between the Survival Motor Neuron Complex and RNA Polymerase II". J. Cell Biol. 152 (1): 75–85. doi:10.1083/jcb.152.1.75. PMC 2193649. PMID 11149922.
• Jablonka S, Bandilla M, Wiese S, et al. (2001). "Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy". Hum. Mol. Genet. 10 (5): 497–505. doi:10.1093/hmg/10.5.497. PMID 11181573.
• Friesen WJ, Massenet S, Paushkin S, et al. (2001). "SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets". Mol. Cell. 7 (5): 1111–7. doi:10.1016/S1097-2765(01)00244-1. PMID 11389857.
• Park JW, Voss PG, Grabski S, et al. (2001). "Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein". Nucleic Acids Res. 29 (17): 3595–602. doi:10.1093/nar/29.17.3595. PMC 55878. PMID 11522829.
• Friesen WJ, Paushkin S, Wyce A, et al. (2001). "The Methylosome, a 20S Complex Containing JBP1 and pICln, Produces Dimethylarginine-Modified Sm Proteins". Mol. Cell. Biol. 21 (24): 8289–300. doi:10.1128/MCB.21.24.8289-8300.2001. PMC 99994. PMID 11713266.
• Gubitz AK, Mourelatos Z, Abel L, et al. (2002). "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins". J. Biol. Chem. 277 (7): 5631–6. doi:10.1074/jbc.M109448200. PMID 11714716.
• Pellizzoni L, Baccon J, Rappsilber J, et al. (2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". J. Biol. Chem. 277 (9): 7540–5. doi:10.1074/jbc.M110141200. PMID 11748230.
• Aerbajinai W, Ishihara T, Arahata K, Tsukahara T (2002). "Increased expression level of the splicing variant of SIP1 in motor neuron diseases". Int. J. Biochem. Cell Biol. 34 (6): 699–707. doi:10.1016/S1357-2725(01)00150-9. PMID 11943600.
• Baccon J, Pellizzoni L, Rappsilber J, et al. (2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". J. Biol. Chem. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID 12065586.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.