CELSR1 Antibody – Rabbit Polyclonal

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]

CELSR1: Receptor that may have an important role in cell/cell signaling during nervous system formation. Defects in CELSR1 are a cause of neural tube defects (NTD). NTD are 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. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: GPCR, family 2; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR

Chromosomal Location of Human Ortholog: 22q13.3

Cellular Component: nucleoplasm; integral to plasma membrane; plasma membrane; integral to membrane

Molecular Function: protein dimerization activity; G-protein coupled receptor activity; transmembrane receptor activity; calcium ion binding

Biological Process: inner ear morphogenesis; central nervous system development; wound healing; neuron migration; locomotory behavior; Rho protein signal transduction; establishment of polarity of embryonic epithelium; anterior/posterior pattern formation; G-protein coupled receptor protein signaling pathway; apical protein localization; hair follicle development; regulation of actin cytoskeleton organization and biogenesis; establishment of body hair orientation; neural tube closure; establishment of planar polarity; homophilic cell adhesion