Gem-associated protein 2

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; OMA:GEMIN2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q21.1 Start 39,114,285 bp [1] End 39,136,973 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 C1 Start 59,060,179 bp [2] End 59,075,256 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell secondary oocyte sperm ventricular zone ganglionic eminence gonad right testis left testis testicle gastrocnemius muscle Top expressed in morula otic placode epiblast embryo embryo endocardial cushion primitive streak otic vesicle abdominal wall ureter More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component SMN complex SMN-Sm protein complex cytosol spliceosomal complex nucleolus intracellular anatomical structure 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 import into nucleus 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: 59.06 – 59.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]}

Interactions

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

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 (September 1997). "The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis". Cell. 90 (6): 1023–1029. doi: 10.1016/S0092-8674(00)80368-2 . PMID   9323130.
6. Liu Q, Fischer U, Wang F, Dreyfuss G (September 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): 1013–1021. doi: 10.1016/S0092-8674(00)80367-0 . PMID   9323129.
7. "Entrez Gene: SIP1 survival of motor neuron protein interacting protein 1".
8. Mourelatos Z, Dostie J, Paushkin S, Sharma A, Charroux B, Abel L, et al. (March 2002). "miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs". Genes & Development. 16 (6): 720–728. doi:10.1101/gad.974702. PMC   155365 . PMID   11914277.
9. Charroux B, Pellizzoni L, Perkinson RA, 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". The Journal of Cell Biology. 147 (6): 1181–1194. doi:10.1083/jcb.147.6.1181. PMC   2168095 . PMID   10601333.
10. 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". Human Molecular Genetics. 9 (13): 1977–1986. doi: 10.1093/hmg/9.13.1977 . PMID   10942426.

Further reading

• Wang Z, Wu X, Friedberg EC (September 1997). "Molecular mechanism of base excision repair of uracil-containing DNA in yeast cell-free extracts". The Journal of Biological Chemistry. 272 (38): 24064–24071. doi: 10.1074/jbc.272.38.24064 . PMID   9295360.
• Zhang WJ, Wu JY (February 1998). "Sip1, a novel RS domain-containing protein essential for pre-mRNA splicing". Molecular and Cellular Biology. 18 (2): 676–684. doi:10.1128/mcb.18.2.676. PMC   108778 . PMID   9447963.
• Charroux B, Pellizzoni L, Perkinson RA, 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". The Journal of Cell Biology. 147 (6): 1181–1194. doi:10.1083/jcb.147.6.1181. PMC   2168095 . PMID   10601333.
• Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, Dreyfuss G (March 2000). "Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli". The Journal of Cell Biology. 148 (6): 1177–1186. doi:10.1083/jcb.148.6.1177. PMC   2174312 . PMID   10725331.
• Helmken C, Wetter A, Rudnik-Schöneborn S, Liehr T, Zerres K, Wirth B (July 2000). "An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)". European Journal of Human Genetics. 8 (7): 493–499. doi: 10.1038/sj.ejhg.5200479 . PMID   10909848.
• 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". Human Molecular Genetics. 9 (13): 1977–1986. doi: 10.1093/hmg/9.13.1977 . PMID   10942426.
• Young PJ, Man NT, Lorson CL, Le TT, Androphy EJ, Burghes AH, Morris GE (November 2000). "The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding". Human Molecular Genetics. 9 (19): 2869–2877. doi: 10.1093/hmg/9.19.2869 . PMID   11092763.
• Selenko P, Sprangers R, Stier G, Bühler D, Fischer U, Sattler M (January 2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nature Structural Biology. 8 (1): 27–31. doi:10.1038/83014. PMID   11135666. S2CID   27071310.
• Pellizzoni L, Charroux B, Rappsilber J, Mann M, Dreyfuss G (January 2001). "A functional interaction between the survival motor neuron complex and RNA polymerase II". The Journal of Cell Biology. 152 (1): 75–85. doi:10.1083/jcb.152.1.75. PMC   2193649 . PMID   11149922.
• Jablonka S, Bandilla M, Wiese S, Bühler D, Wirth B, Sendtner M, Fischer U (March 2001). "Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy". Human Molecular Genetics. 10 (5): 497–505. doi: 10.1093/hmg/10.5.497 . PMID   11181573.
• Friesen WJ, Massenet S, Paushkin S, Wyce A, Dreyfuss G (May 2001). "SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets". Molecular Cell. 7 (5): 1111–1117. doi: 10.1016/S1097-2765(01)00244-1 . PMID   11389857.
• Park JW, Voss PG, Grabski S, Wang JL, Patterson RJ (September 2001). "Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein". Nucleic Acids Research. 29 (17): 3595–3602. doi:10.1093/nar/29.17.3595. PMC   55878 . PMID   11522829.
• Friesen WJ, Paushkin S, Wyce A, Massenet S, Pesiridis GS, Van Duyne G, et al. (December 2001). "The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins". Molecular and Cellular Biology. 21 (24): 8289–8300. doi:10.1128/MCB.21.24.8289-8300.2001. PMC   99994 . PMID   11713266.
• Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G (February 2002). "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins". The Journal of Biological Chemistry. 277 (7): 5631–5636. doi: 10.1074/jbc.M109448200 . PMID   11714716.
• Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (March 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.
• Aerbajinai W, Ishihara T, Arahata K, Tsukahara T (June 2002). "Increased expression level of the splicing variant of SIP1 in motor neuron diseases". The International Journal of Biochemistry & Cell Biology. 34 (6): 699–707. doi:10.1016/S1357-2725(01)00150-9. PMID   11943600.
• Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (August 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.