Gem-associated protein 4

GEMIN4
Identifiers
Aliases	GEMIN4 , HC56, HCAP1, HHRF-1, p97, gem nuclear organelle associated protein 4, NEDMCR
External IDs	OMIM: 606969; MGI: 2449313; HomoloGene: 69193; GeneCards: GEMIN4; OMA:GEMIN4 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.3 Start 744,421 bp [1] End 753,999 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B5 Start 76,101,397 bp [2] End 76,108,490 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis skin of abdomen skin of leg gonad gingival epithelium left ovary body of stomach right ovary Top expressed in spermatid testicle epiblast esophagus embryo embryo yolk sac spermatocyte mesencephalon uterus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component SMN-Sm protein complex cytosol nucleolus small nuclear ribonucleoprotein complex extracellular exosome membrane gemini of coiled bodies nucleoplasm SMN complex nucleus cytoplasm nuclear body Biological process mRNA processing RNA splicing import into nucleus spliceosomal snRNP assembly rRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50628 276919 Ensembl ENSG00000179409 ENSMUSG00000049396 UniProt P57678 Q6P6L6 RefSeq (mRNA) NM_015721 NM_177367 RefSeq (protein) NP_056536 NP_796341 Location (UCSC) Chr 17: 0.74 – 0.75 Mb Chr 11: 76.1 – 76.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gem-associated protein 4 is a protein that in humans is encoded by the GEMIN4 gene. ^{[5] [6]}

Function

The product of this gene is part of the SMN protein complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. ^[6]

Interactions

GEMIN4 has been shown to interact with:

• DDX20, ^{[5] [7]}
• EIF2C2, ^{[7] [8]}
• LGALS1 ^[9] and
• SMN1. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000179409 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049396 – 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. Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, Dreyfuss G (April 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.
6. "Entrez Gene: GEMIN4 gem (nuclear organelle) associated protein 4".
7. Mourelatos Z, Dostie J, Paushkin S, Sharma A, Charroux B, Abel L, Rappsilber J, Mann M, Dreyfuss G (March 2002). "miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs". Genes Dev. 16 (6): 720–8. doi:10.1101/gad.974702. PMC   155365 . PMID   11914277.
8. Nelson PT, Hatzigeorgiou AG, Mourelatos Z (March 2004). "miRNP:mRNA association in polyribosomes in a human neuronal cell line". RNA. 10 (3): 387–94. doi:10.1261/rna.5181104. PMC   1370934 . PMID   14970384.
9. 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 Res. 29 (17): 3595–602. doi:10.1093/nar/29.17.3595. PMC   55878 . PMID   11522829.
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". Hum. Mol. Genet. 9 (13): 1977–86. doi: 10.1093/hmg/9.13.1977 . PMID   10942426.

Further reading

• Meister G, Bühler D, Laggerbauer B, Zobawa M, Lottspeich F, Fischer U (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.
• Pellizzoni L, Charroux B, Rappsilber J, Mann M, Dreyfuss G (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.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Park JW, Voss PG, Grabski S, Wang JL, Patterson RJ (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.
• Qin WX, Wan F, Sun FY, Zhang PP, Han LW, Huang Y, Jiang HQ, Zhao XT, He M, Ye Y, Cong WM, Wu MC, Zhang LS, Yang NW, Gu JR (2002). "Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma". Cell Res. 11 (3): 209–16. doi: 10.1038/sj.cr.7290088 . PMID   11642406.
• Friesen WJ, Paushkin S, Wyce A, Massenet S, Pesiridis GS, Van Duyne G, Rappsilber J, Mann M, Dreyfuss G (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, Rappsilber J, Mann M, Dreyfuss G (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, Mann M, Dreyfuss G (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.
• Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (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.
• Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT (2004). "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. PMID   12668731. S2CID   1152816. (This paper currently has an expression of concern, see doi:10.1242/jcs.260640, PMID   36173032 . If this is an intentional citation to a such a paper, please replace {{ expression of concern |...}} with {{ expression of concern |...|intentional=yes}}.)
• Di Y, Li J, Zhang Y, He X, Lu H, Xu D, Ling J, Huo K, Wan D, Li YY, Gu J (2004). "HCC-associated protein HCAP1, a variant of GEMIN4, interacts with zinc-finger proteins". J. Biochem. 133 (6): 713–8. doi:10.1093/jb/mvg091. PMID   12869526.
• Wan D, He M, Wang J, Qiu X, Zhou W, Luo Z, Chen J, Gu J (2004). "Two variants of the human hepatocellular carcinoma-associated HCAP1 gene and their effect on the growth of the human liver cancer cell line Hep3B". Genes Chromosomes Cancer. 39 (1): 48–58. doi:10.1002/gcc.10293. PMID   14603441. S2CID   20451424.
• Nelson PT, Hatzigeorgiou AG, Mourelatos Z (2004). "miRNP:mRNA association in polyribosomes in a human neuronal cell line". RNA. 10 (3): 387–94. doi:10.1261/rna.5181104. PMC   1370934 . PMID   14970384.
• Shpargel KB, Matera AG (2006). "Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins". Proc. Natl. Acad. Sci. U.S.A. 102 (48): 17372–7. doi: 10.1073/pnas.0508947102 . PMC   1297697 . PMID   16301532.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.