The Function of CELSR1
Receptor that may have an important role in cell/cell signaling during nervous system formation.
Protein names
Recommended name:
Cadherin EGF LAG seven-pass G-type receptor 1Alternative name(s):
Cadherin family member 9Flamingo homolog 2
hFmi2
- RS4044210 (CELSR1) ??
- RS5767218 (CELSR1) ??
- RS6007897 (CELSR1) ??
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Top Gene-Substance Interactions
Substances That Increase CELSR1
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Substances That Decrease CELSR1
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Advanced Summary
From UniProt: 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. [MIM:182940]
From NCBI Gene: 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] From UniProt: Receptor that may have an important role in cell/cell signaling during nervous system formation.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Molecular Function:
- Calcium Ion Binding
- G-Protein Coupled Receptor Activity
- Protein Dimerization Activity
- Transmembrane Signaling Receptor Activity
Biological Processes:
- Anterior/Posterior Pattern Specification
- Apical Protein Localization
- Central Nervous System Development
- Establishment Of Body Hair Planar Orientation
- Establishment Of Planar Polarity
- Establishment Of Planar Polarity Of Embryonic Epithelium
- G-Protein Coupled Receptor Signaling Pathway
- Hair Follicle Development
- Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules
- Inner Ear Morphogenesis
- Lateral Sprouting Involved In Lung Morphogenesis
- Locomotory Behavior
- Neural Tube Closure
- Neuron Migration
- Orthogonal Dichotomous Subdivision Of Terminal Units Involved In Lung Branching Morphogenesis
- Planar Cell Polarity Pathway Involved In Neural Tube Closure
- Planar Dichotomous Subdivision Of Terminal Units Involved In Lung Branching Morphogenesis
- Protein Localization Involved In Establishment Of Planar Polarity
- Regulation Of Actin Cytoskeleton Organization
- Rho Protein Signal Transduction
- Wnt Signaling Pathway, Planar Cell Polarity Pathway
- Wound Healing