Gene
col8a1a
- ID
- ZDB-GENE-070912-274
- Name
- collagen, type VIII, alpha 1a
- Symbol
- col8a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within head development and notochord formation. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including epidermis; hypochord; notochord; prechordal plate; and splanchnocranium. Orthologous to human COL8A1 (collagen type VIII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| m208 | Allele with one point mutation | Unknown | Missense | ENU | |
| m531 | Allele with one point mutation | Unknown | Missense | ENU | |
| pd1100 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| sa6114 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13665 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34670 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| vu41 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| vu105 | Allele with one point mutation | Unknown | Missense | not specified |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | C1q domain | Collagen superfamily | Collagen triple helix repeat | Tumour necrosis factor-like domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:B7SW26 | InterPro | 711 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col8a1a-201
(1)
|
Ensembl | 2,256 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(col8a1a:GFP-CAAX) |
|
| 1 | (4) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-283E2 | ZFIN Curated Data | |
| Encodes | EST | fb18b08 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001142374 (1) | 2176 nt | ||
| Genomic | GenBank:BX322575 (1) | 149874 nt | ||
| Polypeptide | UniProtKB:B7SW26 (1) | 711 aa |
- Doll, L., Welte, K., Skokowa, J., Bajoghli, B. (2024) A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation. Blood advances. 8(15):4050-4065
- Kolb, J., Tsata, V., John, N., Kim, K., Möckel, C., Rosso, G., Kurbel, V., Parmar, A., Sharma, G., Karandasheva, K., Abuhattum, S., Lyraki, O., Beck, T., Müller, P., Schlüßler, R., Frischknecht, R., Wehner, A., Krombholz, N., Steigenberger, B., Beis, D., Takeoka, A., Blümcke, I., Möllmert, S., Singh, K., Guck, J., Kobow, K., Wehner, D. (2023) Small leucine-rich proteoglycans inhibit CNS regeneration by modifying the structural and mechanical properties of the lesion environment. Nature communications. 14:68146814
- Meyer-Alert, H., Wiseman, S., Tang, S., Hecker, M., Hollert, H. (2021) Identification of molecular toxicity pathways across early life-stages of zebrafish exposed to PCB126 using a whole transcriptomics approach. Ecotoxicology and environmental safety. 208:111716
- Farnsworth, D.R., Saunders, L.M., Miller, A.C. (2020) A single-cell transcriptome atlas for zebrafish development. Developmental Biology. 459(2):100-108
- Mu, X., Chen, X., Liu, J., Yuan, L., Wang, D., Qian, L., Qian, Y., Shen, G., Huang, Y., Li, X., Li, Y., Lin, X. (2020) A multi-omics approach reveals molecular mechanisms by which phthalates induce cardiac defects in zebrafish (Danio rerio). Environmental pollution (Barking, Essex : 1987). 265:113876
- Qian, L., Liu, J., Lin, Z., Chen, X., Yuan, L., Shen, G., Yang, W., Wang, D., Huang, Y., Pang, S., Mu, X., Wang, C., Li, Y. (2020) Evaluation of the spinal effects of phthalates in a zebrafish embryo assay. Chemosphere. 249:126144
- Sun, X., Zhou, Y., Zhang, R., Wang, Z., Xu, M., Zhang, D., Huang, J., Luo, F., Li, F., Ni, Z., Zhou, S., Chen, H., Chen, S., Chen, L., Du, X., Chen, B., Huang, H., Liu, P., Yin, L., Qiu, J., Chen, D., Deng, C., Xie, Y., Luo, L., Chen, L. (2020) Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway. Nature communications. 11:479
- Debiais-Thibaud, M., Simion, P., Ventéo, S., Muñoz, D., Marcellini, S., Mazan, S., Haitina, T. (2019) Skeletal mineralisation in association with type X collagen expression is an ancestral feature for jawed vertebrates. Molecular Biology and Evolution. 36(10):2265-2276
- Mu, X., Liu, J., Yuan, L., Yang, K., Huang, Y., Wang, C., Yang, W., Shen, G., Li, Y. (2019) The mechanisms underlying the developmental effects of bisphenol F on zebrafish. The Science of the total environment. 687:877-884
- Xu, G., Shen, H., Nibona, E., Wu, K., Ke, X., Al Hafiz, M.A., Liang, X., Zhong, X., Zhou, Q., Qi, C., Zhao, H. (2019) Fundc1 is necessary for proper body axis formation during embryogenesis in zebrafish. Scientific Reports. 9:18910
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