Gene
col11a1b
- ID
- ZDB-GENE-070912-607
- Name
- collagen, type XI, alpha 1b
- Symbol
- col11a1b Nomenclature History
- Previous Names
-
- si:dkey-87l9.2
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within notochord development. Predicted to be active in extracellular matrix. Is expressed in several structures, including axis; cranial cartilage; nervous system; notochord; and otic vesicle. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness 37; and fibrochondrogenesis 1. Orthologous to human COL11A1 (collagen type XI alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Hardy et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa9895 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11917 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18075 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18432 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18515 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19706 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19707 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col11a1b | Lin et al., 2025 | |
| CRISPR2-col11a1b | Lin et al., 2025 | |
| MO1-col11a1b | N/A | Hardy et al., 2020 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 37 | Alliance | Deafness, autosomal dominant 37 | 618533 |
| fibrochondrogenesis 1 | Alliance | Fibrochondrogenesis 1 | 228520 |
| Marshall syndrome | Alliance | Marshall syndrome | 154780 |
| Stickler syndrome 2 | Alliance | Stickler syndrome, type II | 604841 |
| {Lumbar disc herniation, susceptibility to} | 603932 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000885 | Fibrillar collagen, C-terminal |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR048287 | Thrombospondin-like, N-terminal domain |
| Family | IPR050149 | Collagen superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen superfamily | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Laminin G domain | Thrombospondin-like, N-terminal domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:D6MUD3 | InterPro | 1815 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col11a1b-201
(1)
|
Ensembl | 8,491 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-15I15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-87L9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-101L13 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001184954 (1) | 7435 nt | ||
| Genomic | GenBank:BX510342 (1) | 186711 nt | ||
| Polypeptide | UniProtKB:D6MUD3 (1) | 1815 aa |
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- 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
- Rayrikar, A.Y., Wagh, G.A., Santra, M., Patra, C. (2022) Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish. Development (Cambridge, England). 150(1):
- Sarohi, V., Srivastava, S., Basak, T. (2022) Comprehensive Mapping and Dynamics of Site-Specific Prolyl-Hydroxylation, Lysyl-Hydroxylation and Lysyl O-Glycosylation of Collagens Deposited in ECM During Zebrafish Heart Regeneration. Frontiers in molecular biosciences. 9:892763
- de Bakker, D.E.M., Bouwman, M., Dronkers, E., Simões, F.C., Riley, P.R., Goumans, M.J., Smits, A.M., Bakkers, J. (2021) Prrx1b restricts fibrosis and promotes Nrg1-dependent cardiomyocyte proliferation during zebrafish heart regeneration. Development (Cambridge, England). 148(19):
- Hardy, M.J., Reeck, J.C., Fang, M., Adams, J.S., Oxford, J.T. (2020) Col11a1a Expression Is Required for Zebrafish Development. Journal of developmental biology. 8(3):
- Bretaud, S., Nauroy, P., Malbouyres, M., Ruggiero, F. (2018) FISHING FOR COLLAGEN FUNCTION: ABOUT DEVELOPMENT, REGENERATION AND DISEASE. Seminars in cell & developmental biology. 89:100-108
- Missinato, M.A., Saydmohammed, M., Zuppo, D.A., Rao, K.S., Opie, G.W., Kühn, B., Tsang, M. (2018) Dusp6 attenuates Ras/MAPK signaling to limit zebrafish heart regeneration. Development (Cambridge, England). 145(5)
- Sánchez-Iranzo, H., Galardi-Castilla, M., Sanz-Morejón, A., González-Rosa, J.M., Costa, R., Ernst, A., Sainz de Aja, J., Langa, X., Mercader, N. (2018) Transient fibrosis resolves via fibroblast inactivation in the regenerating zebrafish heart. Proceedings of the National Academy of Sciences of the United States of America. 115(16):4188-4193
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
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