CELSR1

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
Aliases	CELSR1, CDHF9, FMI2, HFMI2, ME2, ADGRC1, cadherin EGF LAG seven-pass G-type receptor 1
External IDs	OMIM: 604523 MGI: 1100883 HomoloGene: 7665 GeneCards: CELSR1
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.31 Start 46,360,834 bp[1] End 46,537,170 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 E2|15 40.42 cM Start 85,898,929 bp[2] End 86,033,777 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • G-protein coupled receptor activity • protein dimerization activity • signal transducer activity • transmembrane signaling receptor activity Cellular component • integral component of membrane • membrane • cell membrane • integral component of plasma membrane • nucleoplasm Biological process • hair follicle development • planar dichotomous subdivision of terminal units involved in lung branching morphogenesis • G-protein coupled receptor signaling pathway • lateral sprouting involved in lung morphogenesis • regulation of actin cytoskeleton organization • locomotory behavior • orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis • establishment of planar polarity of embryonic epithelium • establishment of planar polarity • wound healing • neuron migration • establishment of body hair planar orientation • planar cell polarity pathway involved in neural tube closure • multicellular organism development • Wnt signaling pathway, planar cell polarity pathway • central nervous system development • cell surface receptor signaling pathway • neural tube closure • cell adhesion • inner ear morphogenesis • apical protein localization • Rho protein signal transduction • anterior/posterior pattern specification • signal transduction • homophilic cell adhesion via plasma membrane adhesion molecules • protein localization involved in establishment of planar polarity • cell-cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9620	12614
Ensembl	ENSG00000075275	ENSMUSG00000016028
UniProt	Q9NYQ6	O35161
RefSeq (mRNA)	NM_014246 NM_001378328	NM_009886
RefSeq (protein)	NP_055061 NP_001365257	NP_034016
Location (UCSC)	Chr 22: 46.36 – 46.54 Mb	Chr 15: 85.9 – 86.03 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

See also

• Flamingo (protein)

References

1. GRCh38: Ensembl release 89: ENSG00000075275 - Ensembl, May 2017
2. 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. "Entrez Gene: CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)".

External links

• Human CELSR1 genome location and CELSR1 gene details page in the UCSC Genome Browser.
• Human ME2 genome location and ME2 gene details page in the UCSC Genome Browser.

Further reading

• 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.
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. 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.
• 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.
• 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. 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.
• 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.

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