| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Protein argonaute-1 is a protein that in humans is encoded by the EIF2C1 gene.[1][2][3] Function This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4.[3] == Model organisms == Eif2c1 knockout mouse phenotype| Characteristic | Phenotype |
|---|
| Homozygote viability | Abnormal | | Fertility | Normal | | Body weight | Normal | | Anxiety | Normal | | Neurological assessment | Normal | | Grip strength | Normal | | Hot plate | Normal | | Dysmorphology | Normal | | Indirect calorimetry | Normal | | Glucose tolerance test | Normal | | Auditory brainstem response | Normal | | DEXA | Normal | | Radiography | Normal | | Body temperature | Normal | | Eye morphology | Normal | | Clinical chemistry | Abnormal | | Haematology | Normal | | Micronucleus test | Normal | | Heart weight | Normal | | Eye Histopathology | Normal | | Salmonella infection | Normal[4] | | Citrobacter infection | Normal[5] | | All tests and analysis from[6][7] | Model organisms have been used in the study of EIF2C1 function. A conditional knockout mouse line, called Eif2c1tm1a(KOMP)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[10][11][12]Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty two tests were carried out on mutant mice and two significant abnormalities were observed: homozygous mutants were subviable and females also had decreased circulating aspartate transaminase levels. [6] References 1. ^{{cite journal | vauthors = Koesters R, Adams V, Betts D, Moos R, Schmid M, Siermann A, Hassam S, Weitz S, Lichter P, Heitz PU, von Knebel Doeberitz M, Briner J | title = Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression | journal = Genomics | volume = 61 | issue = 2 | pages = 210–8 | date = Oct 1999 | pmid = 10534406 | pmc = | doi = 10.1006/geno.1999.5951 }}
2. ^{{cite journal | vauthors = Sasaki T, Shiohama A, Minoshima S, Shimizu N | title = Identification of eight members of the Argonaute family in the human genome | journal = Genomics | volume = 82 | issue = 3 | pages = 323–30 | date = Sep 2003 | pmid = 12906857 | pmc = | doi = 10.1016/S0888-7543(03)00129-0 }}
3. ^1 {{cite web | title = Entrez Gene: EIF2C1 eukaryotic translation initiation factor 2C, 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26523| accessdate = }}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKH/salmonella-challenge/ |title=Salmonella infection data for Eif2c1 |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKH/citrobacter-challenge/ |title=Citrobacter infection data for Eif2c1 |publisher=Wellcome Trust Sanger Institute}}
6. ^1 2 {{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages = 925–7 }}
7. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
8. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Eif2c1 |title=International Knockout Mouse Consortium}}
9. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362358 |title=Mouse Genome Informatics}}
10. ^{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}
11. ^{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}
12. ^{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}
13. ^{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Carmell MA, Xuan Z, Zhang MQ, Hannon GJ | title = The Argonaute family: tentacles that reach into RNAi, developmental control, stem cell maintenance, and tumorigenesis | journal = Genes & Development | volume = 16 | issue = 21 | pages = 2733–42 | date = Nov 2002 | pmid = 12414724 | doi = 10.1101/gad.1026102 }}
- {{cite journal | vauthors = Reddy PH, Stockburger E, Gillevet P, Tagle DA | title = Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method | journal = Genomics | volume = 46 | issue = 2 | pages = 174–82 | date = Dec 1997 | pmid = 9417904 | doi = 10.1006/geno.1997.5044 }}
- {{cite journal | vauthors = Cikaluk DE, Tahbaz N, Hendricks LC, DiMattia GE, Hansen D, Pilgrim D, Hobman TC | title = GERp95, a membrane-associated protein that belongs to a family of proteins involved in stem cell differentiation | journal = Molecular Biology of the Cell | volume = 10 | issue = 10 | pages = 3357–72 | date = Oct 1999 | pmid = 10512872 | pmc = 25603 | doi = 10.1091/mbc.10.10.3357 }}
- {{cite journal | vauthors = Martinez J, Patkaniowska A, Urlaub H, Lührmann R, Tuschl T | title = Single-stranded antisense siRNAs guide target RNA cleavage in RNAi | journal = Cell | volume = 110 | issue = 5 | pages = 563–74 | date = Sep 2002 | pmid = 12230974 | doi = 10.1016/S0092-8674(02)00908-X }}
- {{cite journal | vauthors = Doi N, Zenno S, Ueda R, Ohki-Hamazaki H, Ui-Tei K, Saigo K | title = Short-interfering-RNA-mediated gene silencing in mammalian cells requires Dicer and eIF2C translation initiation factors | journal = Current Biology | volume = 13 | issue = 1 | pages = 41–6 | date = Jan 2003 | pmid = 12526743 | doi = 10.1016/S0960-9822(02)01394-5 }}
- {{cite journal | vauthors = Ma JB, Ye K, Patel DJ | title = Structural basis for overhang-specific small interfering RNA recognition by the PAZ domain | journal = Nature | volume = 429 | issue = 6989 | pages = 318–22 | date = May 2004 | pmid = 15152257 | doi = 10.1038/nature02519 | pmc = 4700412 }}
- {{cite journal | vauthors = Sen GL, Blau HM | title = Argonaute 2/RISC resides in sites of mammalian mRNA decay known as cytoplasmic bodies | journal = Nature Cell Biology | volume = 7 | issue = 6 | pages = 633–6 | date = Jun 2005 | pmid = 15908945 | doi = 10.1038/ncb1265 }}
- {{cite journal | vauthors = Liu J, Valencia-Sanchez MA, Hannon GJ, Parker R | title = MicroRNA-dependent localization of targeted mRNAs to mammalian P-bodies | journal = Nature Cell Biology | volume = 7 | issue = 7 | pages = 719–23 | date = Jul 2005 | pmid = 15937477 | pmc = 1855297 | doi = 10.1038/ncb1274 }}
- {{cite journal | vauthors = Chu CY, Rana TM | title = Translation repression in human cells by microRNA-induced gene silencing requires RCK/p54 | journal = PLoS Biology | volume = 4 | issue = 7 | pages = e210 | date = Jul 2006 | pmid = 16756390 | pmc = 1475773 | doi = 10.1371/journal.pbio.0040210 }}
- {{cite journal | vauthors = Kim DH, Villeneuve LM, Morris KV, Rossi JJ | title = Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells | journal = Nature Structural & Molecular Biology | volume = 13 | issue = 9 | pages = 793–7 | date = Sep 2006 | pmid = 16936726 | doi = 10.1038/nsmb1142 }}
- {{cite journal | vauthors = Janowski BA, Huffman KE, Schwartz JC, Ram R, Nordsell R, Shames DS, Minna JD, Corey DR | title = Involvement of AGO1 and AGO2 in mammalian transcriptional silencing | journal = Nature Structural & Molecular Biology | volume = 13 | issue = 9 | pages = 787–92 | date = Sep 2006 | pmid = 16936728 | doi = 10.1038/nsmb1140 }}
- {{cite journal | vauthors = Sasaki T, Shimizu N | title = Evolutionary conservation of a unique amino acid sequence in human DICER protein essential for binding to Argonaute family proteins | journal = Gene | volume = 396 | issue = 2 | pages = 312–20 | date = Jul 2007 | pmid = 17482383 | doi = 10.1016/j.gene.2007.04.001 }}
{{refend}}{{PDB Gallery|geneid=26523}} 1 : Genes mutated in mice |