CELSR1

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 A G-type repeats 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. [provided by RefSeq, Jul 2008]

Cadherin EGF LAG Seven-Pass G-Type Receptor 1

Receptor that may have an important role in cell/cell signaling during nervous system formation.

Apical protein localization Source: UniProtKB
Cell-cell adhesion Source: GO_Central
Central nervous system development Source: UniProtKB
Establishment of body hair planar orientation Source: UniProtKB
Establishment of planar polarity Source: UniProtKB
Establishment of planar polarity of embryonic epithelium Source: UniProtKB
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Lateral sprouting involved in lung morphogenesis Source: UniProtKB
Neural tube closure Source: UniProtKB
Neuron migration Source: UniProtKB
Orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: UniProtKB
Planar dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: UniProtKB
Protein localization involved in establishment of planar polarity Source: UniProtKB
Regulation of actin cytoskeleton organization Source: UniProtKB
Rho protein signal transduction Source: UniProtKB
Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL

Cell membrane

Neural tube defects (NTD): Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

Extracellular: 22-2469
Helical: 2470-2490
Cytoplasmic: 2491-2501
Helical: 2502-2522
Extracellular: 2523-2527
Helical: 2528-2548
Cytoplasmic: 2549-2572
Helical: 2573-2593
Extracellular: 2594-2611
Helical: 2612-2632
Cytoplasmic: 2633-2655
Helical: 2656-2676
Extracellular: 2677-2683
Helical: 2684-2704
Cytoplasmic: 2705-3014

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.