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
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu3613 | Allele with one point mutation | Unknown | Missense | not specified | |
| hu10965 | Allele with one deletion | Unknown | Frameshift, Premature Stop | TALEN | |
| la019987Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa1019 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17588 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ccbe1 | Capon et al., 2017 | |
| CRISPR2-ccbe1 | Capon et al., 2017 | |
| CRISPR3-ccbe1 | Parab et al., 2021 | |
| CRISPR4-ccbe1 | Parab et al., 2021 | |
| CRISPR5-ccbe1 | Parab et al., 2021 | |
| MO1-ccbe1 | N/A | (20) |
| MO2-ccbe1 | N/A | (2) |
| TALEN1-ccbe1 | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hennekam syndrome | Alliance | Hennekam lymphangiectasia-lymphedema syndrome 1 | 235510 |
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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 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(ccbe1:Citrine) |
|
| 1 | (2) | |
| TgBAC(ccbe1:GAL4FF) |
|
| 1 | Wang et al., 2020 | |
| Tg(shha:ccbe1,TagRFP) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-203M19 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001163923 (1) | 1517 nt | ||
| Genomic | GenBank:BX548051 (2) | 162546 nt | ||
| Polypeptide | UniProtKB:A8WGB1 (1) | 401 aa |
- Yu, T., Chen, J., Wang, Y., Xu, J. (2024) The embryonic zebrafish brain is exclusively colonized by pu.1-dependent and lymphatic-independent population of microglia. Science advances. 10:eado0519
- Hußmann, M., Schulte, D., Weischer, S., Carlantoni, C., Nakajima, H., Mochizuki, N., Stainier, D.Y.R., Zobel, T., Koch, M., Schulte-Merker, S. (2023) Svep1 is a binding ligand of Tie1 and affects specific aspects of facial lymphatic development in a Vegfc-independent manner. eLIFE. 12:
- Kugler, E.C., Frost, J., Silva, V., Plant, K., Chhabria, K., Chico, T.J.A., Armitage, P.A. (2022) Zebrafish Vascular Quantification (ZVQ): a tool for quantification of three-dimensional zebrafish cerebrovascular architecture by automated image analysis. Development (Cambridge, England). 149(3):
- Peng, D., Ando, K., Hußmann, M., Gloger, M., Skoczylas, R., Mochizuki, N., Betsholtz, C., Fukuhara, S., Schulte-Merker, S., Lawson, N.D., Koltowska, K. (2022) Proper migration of lymphatic endothelial cells requires survival and guidance cues from arterial mural cells. eLIFE. 11
- Jeong, Y.M., Lee, J.G., Cho, H.J., Lee, W.S., Jeong, J., Lee, J.S. (2021) Differential Clearance of Aβ Species from the Brain by Brain Lymphatic Endothelial Cells in Zebrafish. International Journal of Molecular Sciences. 22(21):
- Koltowska, K., Okuda, K.S., Gloger, M., Rondon-Galeano, M., Mason, E., Xuan, J., Dudczig, S., Chen, H., Arnold, H., Skoczylas, R., Bower, N.I., Paterson, S., Lagendijk, A.K., Baillie, G.J., Leshchiner, I., Simons, C., Smith, K.A., Goessling, W., Heath, J.K., Pearson, R.B., Sanij, E., Schulte-Merker, S., Hogan, B.M. (2021) The RNA helicase Ddx21 controls Vegfc-driven developmental lymphangiogenesis by balancing endothelial cell ribosome biogenesis and p53 function. Nature cell biology. 23:1136-1147
- Parab, S., Quick, R.E., Matsuoka, R.L. (2021) Endothelial cell type-specific molecular requirements for angiogenesis drive fenestrated vessel development in the brain. eLIFE. 10:
- Wang, G., Muhl, L., Padberg, Y., Dupont, L., Peterson-Maduro, J., Stehling, M., le Noble, F., Colige, A., Betsholtz, C., Schulte-Merker, S., van Impel, A. (2020) Specific fibroblast subpopulations and neuronal structures provide local sources of Vegfc-processing components during zebrafish lymphangiogenesis. Nature communications. 11:2724
- Baek, S., Oh, T.G., Secker, G., Sutton, D.L., Okuda, K.S., Paterson, S., Bower, N.I., Toubia, J., Koltowska, K., Capon, S.J., Baillie, G.J., Simons, C., Muscat, G.E.O., Lagendijk, A.K., Smith, K.A., Harvey, N.L., Hogan, B.M. (2019) The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic Lineage. Developmental Cell. 49:279-292.e5
- Chen, J., He, J., Ni, R., Yang, Q., Zhang, Y., Luo, L. (2019) Cerebrovascular Injuries Induce Lymphatic Invasion into Brain Parenchyma to Guide Vascular Regeneration in Zebrafish. Developmental Cell. 49(5):697-710.e5
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