TCF7L1

Transcription factor 7-like 1 (T-cell specific, HMG-box), also known as TCF7L1, is a human gene.[5]

TCF7L1
Identifiers
AliasesTCF7L1, TCF-3, TCF3, transcription factor 7 like 1
External IDsOMIM: 604652 MGI: 1202876 HomoloGene: 7563 GeneCards: TCF7L1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p11.2Start85,133,392 bp[1]
End85,310,387 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

83439

21415

Ensembl

ENSG00000152284

ENSMUSG00000055799

UniProt

Q9HCS4

Q9Z1J1

RefSeq (mRNA)

NM_031283

NM_001079822
NM_009332

RefSeq (protein)

NP_112573

NP_001073290
NP_033358

Location (UCSC)Chr 2: 85.13 – 85.31 MbChr 6: 72.63 – 72.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence.[5]

Model organisms

Model organisms have been used in the study of TCF7L1 function. A conditional knockout mouse line, called Tcf7l1tm1a(EUCOMM)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on mutant mice and two significant abnormalities were observed.[8] Few homozygous mutant embryos were identified during gestation, and those that did survive had a severe craniofacial defect. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.[8]

References
  1. GRCh38: Ensembl release 89: ENSG00000152284 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000055799 - 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. "Entrez Gene: transcription factor 7-like 1 (T-cell specific, HMG-box)". Retrieved 2011-08-30.
  6. "Salmonella infection data for Tcf7l1". Wellcome Trust Sanger Institute.
  7. "Citrobacter infection data for Tcf7l1". Wellcome Trust Sanger Institute.
  8. 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. S2CID 85911512.
  9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. "International Knockout Mouse Consortium".
  11. "Mouse Genome Informatics".
  12. 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.
  13. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. 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. S2CID 18872015.
  15. 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
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.