CELSR1
Cadherin EGF LAG Seven-Pass G-Type Receptor 1
Gene Information Card
| Symbol | CELSR1 |
|---|---|
| Full Name | Cadherin EGF LAG Seven-Pass G-Type Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 9620 ncbi.nlm.nih.gov/gene/9620 |
| Ensembl ID | ENSG00000100345 |
| UniProt ID | Q9NYQ6 |
| OMIM ID | 604523 |
| HGNC ID | 1850 |
| Aliases | CDHF9, FMI2, ME2, MEGF3 |
Description
CELSR1 encodes a member of the flamingo subfamily of cadherins, which are atypical cadherins that function as receptors in the planar cell polarity (PCP) pathway. The protein contains nine cadherin domains, seven epidermal growth factor (EGF)-like repeats, two laminin A G-type repeats, and a G-protein-coupled receptor (GPCR) proteolytic site. CELSR1 is involved in establishing tissue polarity, cell migration, and neural tube closure. Mutations in this gene are associated with neural tube defects and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects (e.g., spina bifida, anencephaly) | Loss-of-function variants disrupt planar cell polarity signaling, impairing neural tube closure | ClinVar, OMIM |
| Lymphatic malformations | Altered CELSR1 expression may affect lymphatic vessel patterning | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Spinal cord | 4.8 | Low |
| Heart | 3.1 | Low |
| Kidney | 2.5 | Low |
| Lung | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.0 | Moderate expression |
| HEK293 (embryonic kidney) | 3.5 | Low expression |
| HepG2 (liver cancer) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.7915C>T (p.Arg2639*) | Nonsense | Rare | Loss of function; associated with neural tube defects |
| c.6766G>A (p.Gly2256Arg) | Missense | Rare | Likely damaging; disrupts cadherin domain |
| c.1048_1049del (p.Leu350Valfs*3) | Frameshift | Rare | Loss of function; reported in spina bifida |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site variants that reduce or abolish CELSR1 protein function are associated with neural tube defects.
Gain of Function (GOF)
Not reported in the literature.
Dominant Negative (DN)
Possible for missense variants that disrupt PCP signaling without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
| • G-protein coupled receptor activity | • calcium ion binding |
| • cell adhesion | • planar cell polarity |
| • neural tube closure | • cell migration |
Pathways
• Planar cell polarity (PCP) pathway
• Wnt signaling pathway
Protein Summary
CELSR1 is a 2,912-amino-acid transmembrane protein with a large extracellular region containing cadherin repeats, EGF-like domains, and laminin G domains. It functions as a receptor in the planar cell polarity pathway, mediating cell-cell adhesion and signaling. The protein undergoes autoproteolytic cleavage at the GPCR proteolytic site, generating two subunits that remain non-covalently associated. CELSR1 is critical for oriented cell division, convergent extension, and neural tube closure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELSR1 Knockout HEK293 Cell Line | EDJ-KQ6660 | Human | 9620 | Details Get a Quote |
| CELSR1 Knockout A-549 Cell Line | EDJ-KQ30960 | Human | 9620 | Details Get a Quote |
| CELSR1 Knockout HCT 116 Cell Line | EDJ-KQ30961 | Human | 9620 | Details Get a Quote |
| CELSR1 Knockout HeLa Cell Line | EDJ-KQ30962 | Human | 9620 | Details Get a Quote |
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