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)
End	39,136,973 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	59,075,256 bp
RNA expression pattern
	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
	; ; ; ;
	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
	8487
	66603
	ENSG00000092208
	ENSMUSG00000060121
	O14893
	Q9CQQ4
	NM_001009182 ; NM_001009183 ; NM_003616
	NM_025656
	NP_001009182 ; NP_001009183 ; NP_003607
	NP_079932
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated June 10, 2024

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]

Related Research Articles

Gideon Dreyfuss is an American biochemist, the Isaac Norris Professor of Biochemistry and Biophysics at the University of Pennsylvania School of Medicine, and an investigator of the Howard Hughes Medical Institute. He was elected to the National Academy of Sciences in 2012.

Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.

rRNA 2'-O-methyltransferase fibrillarin is an enzyme that in humans is encoded by the FBL gene.

Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.

Small nuclear ribonucleoprotein Sm D1 is a protein that in humans is encoded by the SNRPD1 gene.

Small nuclear ribonucleoprotein-associated proteins B and B' is a protein that in humans is encoded by the SNRPB gene.

Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the SNRPD2 gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.

Small nuclear ribonucleoprotein E is a protein that in humans is encoded by the SNRPE gene.

Small nuclear ribonucleoprotein Sm D3 is a protein that in humans is encoded by the SNRPD3 gene.

Probable ATP-dependent RNA helicase DDX20, also known as DEAD-box helicase 20 and gem-associated protein 3 (GEMIN3), is an enzyme that in humans is encoded by the DDX20 gene.

Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the SNRPF gene.

U2 small nuclear ribonucleoprotein B is a protein that in humans is encoded by the SNRPB2 gene.

Small nuclear ribonucleoprotein G is a protein that in humans is encoded by the SNRPG gene.

H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.

Gem-associated protein 7 is a protein that in humans is encoded by the GEMIN7 gene. The gem-associated proteins are those found in the gems of Cajal bodies.

Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene. The gem-associated proteins are those found in the gems of Cajal bodies.

Gem-associated protein 4 is a protein that in humans is encoded by the GEMIN4 gene.

Heterogeneous nuclear ribonucleoprotein R is a protein that in humans is encoded by the HNRNPR gene.

Gem-associated protein 5 is a protein that in humans is encoded by the GEMIN5 gene.

Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein in humans.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000092208 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000060121 – 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.
↑ 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.
1 2 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.
↑ "Entrez Gene: SIP1 survival of motor neuron protein interacting protein 1".
↑ 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.
↑ 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.
↑ 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000092208 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9323130-5] 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.

[pmid9323129-6] 1 2 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.

[entrez-7] "Entrez Gene: SIP1 survival of motor neuron protein interacting protein 1".

[pmid11914277-8] 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.

[pmid10601333-9] 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.

[pmid10942426-10] 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.

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Gem-associated protein 2

Contents

Interactions

See also

Related Research Articles

References

Further reading