CELSR1

Summary

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.[5][6]

CELSR1
Identifiers
AliasesCELSR1, CDHF9, FMI2, HFMI2, ME2, ADGRC1, cadherin EGF LAG seven-pass G-type receptor 1, LMPHM9
External IDsOMIM: 604523 MGI: 1100883 HomoloGene: 7665 GeneCards: CELSR1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014246
NM_001378328

NM_009886

RefSeq (protein)

NP_055061
NP_001365257

NP_034016

Location (UCSC)Chr 22: 46.36 – 46.54 MbChr 15: 85.78 – 85.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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.[6]

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000075275 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016028 - 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. ^ Hadjantonakis AK, Sheward WJ, Harmar AJ, de Galan L, Hoovers JM, Little PF (Nov 1997). "Celsr1, a neural-specific gene encoding an unusual seven-pass transmembrane receptor, maps to mouse chromosome 15 and human chromosome 22qter" (PDF). Genomics. 45 (1): 97–104. doi:10.1006/geno.1997.4892. PMID 9339365.
  6. ^ a b "Entrez Gene: CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)".

External links edit

Further reading edit

  • Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
  • Wu Q, Maniatis T (1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  • Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
  • Ghosh A (2000). "Dentritic [sic] growth: don't go says flamingo". Neuron. 28 (1): 3–4. doi:10.1016/S0896-6273(00)00076-3. PMID 11086974. S2CID 12982330.
  • Gross J, Grimm O, Ortega G, et al. (2002). "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. doi:10.1097/00041444-200112000-00003. PMID 11807409. S2CID 32757646.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Georgieva L, Nikolov I, Poriazova N, et al. (2004). "Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia". Psychiatr. Genet. 13 (2): 103–6. doi:10.1097/01.ypg.0000057486.14812.03. PMID 12782967. S2CID 28084057.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Carroll JS, Liu XS, Brodsky AS, et al. (2005). "Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1". Cell. 122 (1): 33–43. doi:10.1016/j.cell.2005.05.008. PMID 16009131. S2CID 16841542.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.