Gene
col17a1b
- ID
- ZDB-GENE-030131-7145
- Name
- collagen, type XVII, alpha 1b
- Symbol
- col17a1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within lateral line system development. Predicted to be located in membrane. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in heart; hypodermis; lateral line; and neuromast. 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
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Kim et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa6300 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18664 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22298 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22299 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31930 | Allele with one point mutation | Unknown | Splice Site | ENU |
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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 | Length | Collagen superfamily | Collagen triple helix repeat |
|---|---|---|---|
|
UniProtKB:A0A8M2B345
|
1517 | ||
|
UniProtKB:A0A8N7UTE7
|
1542 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col17a1b-201
(1)
|
Ensembl | 2,349 nt | ||
| mRNA |
col17a1b-202
(1)
|
Ensembl | 4,533 nt | ||
| mRNA |
col17a1b-203
(1)
|
Ensembl | 510 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 | CH211-223P8 | ZFIN Curated Data | |
| Encodes | EST | fk89a06 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_692149 (1) | 5219 nt | ||
| Genomic | GenBank:AL929005 (1) | 166364 nt | ||
| Polypeptide | UniProtKB:A0A8N7UTE7 (1) | 1542 aa |
- Sun, J., She, P., Liu, X., Gao, B., Jin, D., Zhong, T.P. (2020) Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis. International Journal of Molecular Sciences. 22(1):
- 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
- 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
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