Gene
col4a3
- ID
- ZDB-GENE-070802-4
- Name
- collagen, type IV, alpha 3
- Symbol
- col4a3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Acts upstream of or within glomerular basement membrane development and glomerular filtration. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including gill; gonad primordium; hypodermis; lens; and pronephros. Used to study Alport syndrome. Human ortholog(s) of this gene implicated in Alport syndrome; autosomal dominant Alport syndrome; autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A3 (collagen type IV alpha 3 chain).
- Genome Resources
- Note
-
Gene characterized by MacDonald et al. (2007) by NC1 domain only.
- 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
- 2 figures from Naylor et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
col4a3_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
fh337 | Allele with one point mutation | Unknown | Unknown | ENU | |
sa12489 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa22698 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42602 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-col4a3 | Naylor et al., 2022 | |
CRISPR2-col4a3 | Naylor et al., 2022 | |
CRISPR3-col4a3 | Naylor et al., 2022 | |
CRISPR4-col4a3 | Naylor et al., 2022 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant Alport syndrome | Alliance | Alport syndrome 3A, autosomal dominant | 104200 |
Alport syndrome 3B, autosomal recessive | 620536 | ||
Hematuria, benign familial, 2 | 620320 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Alport syndrome | WT + CRISPR1-col4a3 + CRISPR2-col4a3 + CRISPR3-col4a3 + CRISPR4-col4a3 | standard conditions | Naylor et al., 2022 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen superfamily | Collagen triple helix repeat | C-type lectin fold |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8N7TBD4 | InterPro | 1664 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col4a3-201
(1)
|
Ensembl | 2,763 nt | ||
mRNA |
col4a3-202
(1)
|
Ensembl | 9,477 nt | ||
mRNA |
col4a3-203
(1)
|
Ensembl | 735 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-29L4 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_688921 (1) | 9210 nt | ||
Genomic | GenBank:BX571880 (1) | 194220 nt | ||
Polypeptide | UniProtKB:A0A8N7TBD4 (1) | 1664 aa |
- LeBleu, V.S., Dai, J., Tsutakawa, S., MacDonald, B.A., Alge, J.L., Sund, M., Xie, L., Sugimoto, H., Tainer, J., Zon, L.I., Kalluri, R. (2023) Identification of unique α4 chain structure and conserved anti-angiogenic activity of α3NC1 type IV collagen in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(7):1046-1060
- Naylor, R.W., Lemarie, E., Jackson-Crawford, A., Davenport, J.B., Mironov, A., Lowe, M., Lennon, R. (2022) A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish. Kidney International. 102(4):815-827
- Naylor, R.W., Watson, E., Williamson, S., Preston, R., Davenport, J.B., Thornton, N., Lowe, M., Williams, M., Lennon, R. (2022) Basement membrane defects in CD151-associated glomerular disease. Pediatric nephrology (Berlin, Germany). 37(12):3105-3115
- Nicholas, C., Weaver, M., Piedade, W.P., Vocking, O., Famulski, J.K. (2019) Temporal characterization of optic fissure basement membrane composition suggests nidogen may be an initial target of remodeling. Developmental Biology. 452(1):43-54
- 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
- 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
- Hyvarinen, J., Parikka, M., Sormunen, R., Ramet, M., Tryggvason, K., Kivirikko, K.I., Myllyharju, J., and Koivunen, P. (2010) Deficiency of a transmembrane prolyl 4-hydroxylase in the zebrafish leads to basement membrane defects and compromised kidney function. The Journal of biological chemistry. 285(53):42023-42032
- Macdonald, B.A., Sund, M., Grant, M.A., Pfaff, K.L., Holthaus, K., Zon, L.I., Kalluri, R. (2006) Zebrafish to humans: evolution of the alpha3-chain of type IV collagen and emergence of the autoimmune epitopes associated with Goodpasture syndrome. Blood. 107(5):1908-1915
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