EIF2C1

Protein argonaute-1 is a protein that in humans is encoded by the EIF2C1 gene.[5][6][7]

AGO1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAGO1, EIF2C, EIF2C1, GERP95, Q99, hAgo1, argonaute 1, RISC catalytic component, argonaute RISC catalytic component 1, argonaute RISC component 1
External IDsOMIM: 606228 MGI: 2446630 HomoloGene: 81826 GeneCards: AGO1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p34.3Start35,869,808 bp[1]
End35,930,532 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

26523

236511

Ensembl

ENSG00000092847

ENSMUSG00000041530

UniProt

Q9UL18

Q8CJG1

RefSeq (mRNA)

NM_012199
NM_001317122
NM_001317123

NM_153403
NM_001317173
NM_001317174
NM_001378879

RefSeq (protein)

NP_001304051
NP_001304052
NP_036331

NP_001304102
NP_001304103
NP_700452
NP_001365808

Location (UCSC)Chr 1: 35.87 – 35.93 MbChr 4: 126.44 – 126.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Model organisms

Model organisms have been used in the study of EIF2C1 function. A conditional knockout mouse line, called Eif2c1tm1a(KOMP)Wtsi[12][13] 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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] 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. [10]

References

  1. GRCh38: Ensembl release 89: ENSG00000092847 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041530 - 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. 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 (Oct 1999). "Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression". Genomics. 61 (2): 210–8. doi:10.1006/geno.1999.5951. PMID 10534406.
  6. Sasaki T, Shiohama A, Minoshima S, Shimizu N (Sep 2003). "Identification of eight members of the Argonaute family in the human genome". Genomics. 82 (3): 323–30. doi:10.1016/S0888-7543(03)00129-0. PMID 12906857.
  7. "Entrez Gene: EIF2C1 eukaryotic translation initiation factor 2C, 1".
  8. "Salmonella infection data for Eif2c1". Wellcome Trust Sanger Institute.
  9. "Citrobacter infection data for Eif2c1". Wellcome Trust Sanger Institute.
  10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. "International Knockout Mouse Consortium".
  13. "Mouse Genome Informatics".
  14. 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 (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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