CER1 (Cerberus 1, DAN Family BMP Antagonist)
Key regulator of Nodal, BMP, and Wnt signaling during embryonic development
Gene Information Card
| Symbol | CER1 |
|---|---|
| Full Name | Cerberus 1, DAN Family BMP Antagonist |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 9350 ncbi.nlm.nih.gov/gene/9350 |
| Ensembl ID | ENSG00000147869 |
| UniProt ID | O95813 |
| OMIM ID | 603777 |
| HGNC ID | 1862 |
| Aliases | CER, CERBERUS, DAND4 |
Description
CER1 encodes Cerberus 1, a secreted protein belonging to the DAN family of BMP antagonists. It functions as a multivalent antagonist of Nodal, BMP, and Wnt signaling pathways, playing a critical role in embryonic development, particularly in left-right axis determination, head formation, and cardiac morphogenesis. CER1 is expressed in the anterior visceral endoderm and later in the left lateral plate mesoderm, where it helps establish asymmetry. Dysregulation or mutations in CER1 are associated with laterality defects and congenital heart disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (laterality defects) | Impaired left-right patterning due to disrupted Nodal/BMP antagonism | PMID: 16973135 |
| Heterotaxy syndrome | Loss of CER1 function leads to abnormal asymmetric organ placement | PMID: 21211617 |
| Esophageal atresia / tracheoesophageal fistula | Potential involvement in foregut development via BMP signaling modulation | PMID: 25741868 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
| Placenta | 0.2 | Not detected |
| Testis | 0.1 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hESC (H1) | 0.0 | Not expressed in undifferentiated cells |
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, loss of function |
| c.199C>T (p.Arg67Trp) | Missense | <0.01% | Impaired Nodal antagonism |
| c.328G>A (p.Gly110Ser) | Missense | <0.01% | Reduced BMP binding affinity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg67Trp) reduce or abolish Nodal/BMP antagonism, leading to laterality defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • cytokine activity |
| • Nodal binding | • Wnt-protein binding |
| • extracellular region | • negative regulation of BMP signaling pathway |
| • negative regulation of Nodal signaling pathway | • negative regulation of Wnt signaling pathway |
| • left/right axis specification | • heart development |
Pathways
• BMP signaling pathway
• Nodal signaling pathway
• Wnt signaling pathway
• Left-right axis determination
Protein Summary
Cerberus 1 is a 267-amino-acid secreted glycoprotein containing a DAN domain. It forms a cystine-knot structure that allows it to bind and inhibit Nodal, BMP2/4/7, and Wnt8. The protein is essential for head induction and left-right patterning during embryogenesis. Its expression is tightly regulated temporally and spatially, and its absence or mutation leads to severe developmental anomalies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CER1 Knockout HEK293 Cell Line | EDJ-KQ286 | Human | 9350 | Details Get a Quote |
| CER1 Knockout HeLa Cell Line | EDJ-KQ55134 | Human | 9350 | Details Get a Quote |
| CER1 Knockout A-549 Cell Line | EDJ-KQ63612 | Human | 9350 | Details Get a Quote |
| CER1 Knockout HCT 116 Cell Line | EDJ-KQ72079 | Human | 9350 | Details Get a Quote |
