ZFIN is now using GRCz12tu for Genomic Data
Gene
ccbe1
- ID
- ZDB-GENE-090506-7
- Name
- collagen and calcium binding EGF domains 1
- Symbol
- ccbe1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium ion binding activity. Involved in lymphangiogenesis; sprouting angiogenesis; and venous blood vessel morphogenesis. Acts upstream of or within blood vessel morphogenesis; vascular endothelial growth factor signaling pathway; and venous endothelial cell migration involved in lymph vessel development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including axial vasculature; epiphysis; head; intermediate mesoderm; and myoseptum. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human CCBE1 (collagen and calcium binding EGF domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hennekam syndrome | Alliance | Hennekam lymphangiectasia-lymphedema syndrome 1 | 235510 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Family | IPR050751 | Extracellular matrix structural protein |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen triple helix repeat | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A8WGB1 | InterPro | 401 | ||||||
| UniProtKB:A0A8M9P3B9 | InterPro | 359 | ||||||
| UniProtKB:A0A8M6YWX1 | InterPro | 328 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers