Celsr1 Gene Summary [Mouse]
Predicted to enable calcium ion binding activity. Involved in establishment of planar polarity and neural tube closure. Acts upstream of or within several processes, including apical protein localization; morphogenesis of an epithelium; and motor neuron migration. Located in membrane. Is expressed in several structures, including central nervous system; epithelium; primitive streak; renal cortex; and skin. Human ortholog(s) of this gene implicated in hereditary lymphedema. Orthologous to human CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Celsr1 |
| Official Name | cadherin, EGF LAG seven-pass G-type receptor 1 [Source:MGI Symbol;Acc:MGI:1100883] |
| Ensembl ID | ENSMUSG00000016028 |
| Bio databases IDs | |
| Aliases | cadherin, EGF LAG seven-pass G-type receptor 1 |
| Synonyms | ADGRC1, cadherin EGF LAG seven-pass G-type receptor 1, cadherin, EGF LAG seven-pass G-type receptor 1, CDHF9, crash, Crsh, FMI2, HFMI2, LMPHM9, ME2, Scy |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Celsr1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- Hormone receptor domain
- 7 transmembrane receptor (Secretin family)
- LamG
- GPCR-Autoproteolysis INducing (GAIN) domain
- Human growth factor-like EGF
- calcium ion binding
- protein binding
- Tumor necrosis factor receptor superfamily (TNFRSF)
- seven-transmembrane G protein-coupled receptor superfamily
- EGF_CA
- Laminin-type epidermal growth factor-like domai
- Cadherin repeat-like domain
- GPCR proteolysis site, GPS, motif
- laminin G domain
Pathways
Biological processes and signaling networks where the Celsr1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- lymphatic malformation 9
- lymphatic malformation
- Alzheimer disease
- chronic lymphocytic leukemia
- androgenic alopecia
- neural tube defect
- self-abusive behavior
- bladder exstrophy
- hemimegalencephaly
phenotypes
- abnormal head morphology
- abnormal snout morphology
- abnormal startle reflex
- corneal opacity
- decreased circulating cholesterol level
- decreased prepulse inhibition
- increased circulating HDL cholesterol level
- increased circulating cholesterol level
- increased lean body mass
- increased total body fat amount
- preweaning lethality incomplete penetrance
- abnormal branching involved in lung morphogenesis
- abnormal coat appearance
- abnormal cochlear sensory epithelium morphology
- abnormal hair follicle orientation
- abnormal involuntary movement
- abnormal lung epithelium morphology
- abnormal lung lobe morphology
- abnormal lung morphology
- abnormal lung saccule morphology
- abnormal neural plate morphology
- abnormal neural tube closure
- abnormal organ of Corti supporting cell morphology
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal outer hair cell kinocilium location or orientation
- abnormal respiratory conducting tube morphology
- absent eyelids
- circling
- cochlear outer hair cell degeneration
- craniorachischisis
- cranioschisis
- curly tail
- deafness
- decreased body size
- delayed neural tube closure
- dilated terminal bronchiole tubes
- head bobbing
- head shaking
- head tossing
- hydrocephaly
- impaired branching involved in terminal bronchiole morphogenesis
- impaired hearing
- incomplete rostral neuropore closure
- increased or absent threshold for auditory brainstem response
- increased susceptibility to otitis media
- kinked tail
- open neural tube
- perinatal lethality complete penetrance
- prenatal lethality
- prenatal lethality incomplete penetrance
- pulmonary hypoplasia
- reduced fertility
- ruffled hair
- small lung
- small lung lobe
- spinning
- testicular atrophy
- thick lung-associated mesenchyme
- whorled hair
role in cell
- cell death
- outgrowth
- migration by
- organization
- outgrowth in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- cellular membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Celsr1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- establishment of body hair planar orientation
- protein localization involved in establishment of planar polarity
- Rho protein signal transduction
- homophilic cell adhesion
- orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
- planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
- establishment of planar polarity of embryonic epithelium
- neuron migration
- central nervous system development
- regulation of actin cytoskeleton organization
- neural tube closure
- establishment of planar polarity
- apical protein localization
- Wnt receptor signaling pathway, planar cell polarity pathway
- lateral sprouting involved in lung morphogenesis
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- calcium ion binding