Gem-associated protein 2

Protein-coding gene in the species Homo sapiens
GEMIN2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2LEH, 3S6N

Identifiers
AliasesGEMIN2, SIP1, SIP1-delta, Survival of motor neuron protein-interacting protein 1, gem nuclear organelle associated protein 2
External IDsOMIM: 602595; MGI: 1913853; HomoloGene: 37827; GeneCards: GEMIN2; OMA:GEMIN2 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for GEMIN2
Genomic location for GEMIN2
Band14q21.1Start39,114,285 bp[1]
End39,136,973 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for GEMIN2
Genomic location for GEMIN2
Band12|12 C1Start59,060,179 bp[2]
End59,075,256 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 12: 59.06 – 59.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092208 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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.
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