TWF1
Identifiers
AliasesTWF1, A6, PTK9, twinfilin actin binding protein 1
External IDsOMIM: 610932 MGI: 1100520 HomoloGene: 48140 GeneCards: TWF1
Orthologs
SpeciesHumanMouse
Entrez

5756

19230

Ensembl

ENSG00000151239

ENSMUSG00000022451

UniProt

Q12792

Q91YR1

RefSeq (mRNA)

NM_001242397
NM_002822
NM_198974

NM_008971

RefSeq (protein)

NP_001229326
NP_002813

NP_032997
NP_001389738
NP_001389739

Location (UCSC)Chr 12: 43.79 – 43.81 MbChr 15: 94.48 – 94.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Twinfilin-1 is a protein that in humans is encoded by the TWF1 gene.[5][6] This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1.[6]

Model organisms

Model organisms have been used in the study of TWF1 function. A conditional knockout mouse line, called Twf1tm1a(EUCOMM)Wtsi[13][14] 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 — at the Wellcome Trust Sanger Institute.[15][16][17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.[11]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000151239 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022451 - 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. ↑ Beeler JF, LaRochelle WJ, Chedid M, Tronick SR, Aaronson SA (February 1994). "Prokaryotic expression cloning of a novel human tyrosine kinase". Mol. Cell. Biol. 14 (2): 982–8. doi:10.1128/mcb.14.2.982. PMC 358453. PMID 7507208.
  6. 1 2 "Entrez Gene: TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila)".
  7. ↑ "Eye morphology data for Twf1". Wellcome Trust Sanger Institute.
  8. ↑ "Clinical chemistry data for Twf1". Wellcome Trust Sanger Institute.
  9. ↑ "Salmonella infection data for Twf1". Wellcome Trust Sanger Institute.
  10. ↑ "Citrobacter infection data for Twf1". Wellcome Trust Sanger Institute.
  11. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  12. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ↑ "International Knockout Mouse Consortium".
  14. ↑ "Mouse Genome Informatics".
  15. ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  16. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  17. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  18. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading


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