Gene
col17a1a
- ID
- ZDB-GENE-090313-107
- Name
- collagen, type XVII, alpha 1a
- Symbol
- col17a1a Nomenclature History
- Previous Names
-
- col17a1
- col17a1b
- si:ch211-281g13.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within epidermis development. Predicted to be located in basement membrane; hemidesmosome; and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in corneal epithelial cell; epithelium; hypodermis; and integument. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la021262Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa652 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa7401 | Allele with one point mutation | Unknown | Missense | ENU | |
sa16045 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa19578 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa19579 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa19580 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa32763 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa39682 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-col17a1a | Sun et al., 2019 | |
MO1-col17a1a | N/A | Kim et al., 2010 |
MO2-col17a1a | N/A | Oliver et al., 2016 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
epithelial recurrent erosion dystrophy | Alliance | Epithelial recurrent erosion dystrophy | 122400 |
Epidermolysis bullosa, junctional 4, intermediate | 619787 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen triple helix repeat |
---|---|---|---|---|
UniProtKB:A0A8M9PH43 | InterPro | 1397 | ||
UniProtKB:B8A4S4 | InterPro | 1408 | ||
UniProtKB:A0A8M6YXV6 | InterPro | 1413 | ||
UniProtKB:A0A8M2B6Z2 | InterPro | 1414 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col17a1a-201
(1)
|
Ensembl | 4,745 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 | CH211-281G13 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001145565 (1) | |||
Genomic | GenBank:BX321880 (1) | 144139 nt | ||
Polypeptide | UniProtKB:A0A8M2B6Z2 (1) | 1414 aa |
- 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
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- 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
- 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
- Oliver, V.F., van Bysterveldt, K.A., Cadzow, M., Steger, B., Romano, V., Markie, D., Hewitt, A.W., Mackey, D.A., Willoughby, C.E., Sherwin, T., Crosier, P.S., McGhee, C.N., Vincent, A.L. (2016) A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Ophthalmology. 123(4):709-22
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Li, Q., Frank, M., Thisse, C.I., Thisse, B.V., and Uitto, J. (2011) Zebrafish: A Model System to Study Heritable Skin Diseases. The Journal of investigative dermatology. 131(3):565-571
- Kim, S.H., Choi, H.Y., So, J.H., Kim, C.H., Ho, S.Y., Frank, M., Li, Q., and Uitto, J. (2010) Zebrafish type XVII collagen: Gene structures, expression profiles, and morpholino "knock-down" phenotypes. Matrix biology : journal of the International Society for Matrix Biology. 29(7):629-637
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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