CELSR1 explained
Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a protein that in humans is encoded by the CELSR1 gene.[1] [2]
Function
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin G-like domains in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis.
See also
Further reading
- Nollet F, Kools P, van Roy F . Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members . J. Mol. Biol. . 299 . 3 . 551–72 . 2000 . 10835267 . 10.1006/jmbi.2000.3777 .
- Wu Q, Maniatis T . A striking organization of a large family of human neural cadherin-like cell adhesion genes . Cell . 97 . 6 . 779–90 . 1999 . 10380929 . 10.1016/S0092-8674(00)80789-8 . 6014717 . free .
- Dunham I, Shimizu N, Roe BA . The DNA sequence of human chromosome 22 . Nature . 402 . 6761 . 489–95 . 1999 . 10591208 . 10.1038/990031 . 1999Natur.402..489D . etal. free .
- Wu Q, Maniatis T . Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes . Proc. Natl. Acad. Sci. U.S.A. . 97 . 7 . 3124–9 . 2000 . 10716726 . 10.1073/pnas.060027397 . 16203 . free .
- Ghosh A . Dentritic growth: don't go says flamingo . Neuron . 28 . 1 . 3–4 . 2000 . 11086974 . 10.1016/S0896-6273(00)00076-3 . 12982330 . free .
- Gross J, Grimm O, Ortega G . Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family . Psychiatr. Genet. . 11 . 4 . 197–200 . 2002 . 11807409 . 10.1097/00041444-200112000-00003 . 32757646 . etal.
- Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
- Georgieva L, Nikolov I, Poriazova N . Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia . Psychiatr. Genet. . 13 . 2 . 103–6 . 2004 . 12782967 . 10.1097/01.ypg.0000057486.14812.03 . 28084057 . etal.
- Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
- Carroll JS, Liu XS, Brodsky AS . Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1 . Cell . 122 . 1 . 33–43 . 2005 . 16009131 . 10.1016/j.cell.2005.05.008 . 16841542 . etal. free .
Notes and References
- Hadjantonakis AK, Sheward WJ, Harmar AJ, de Galan L, Hoovers JM, Little PF . Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter . Genomics . 45 . 1 . 97–104 . Nov 1997 . 9339365 . 10.1006/geno.1997.4892 . 2019-09-17 . 2019-02-18 . https://web.archive.org/web/20190218181935/https://pure.uva.nl/ws/files/3045332/3179_29691y.pdf . live .
- Web site: Entrez Gene: CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila). 2017-08-30. 2024-05-02. https://web.archive.org/web/20240502061317/https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9620. live.