Gene
col4a1
- ID
- ZDB-GENE-081105-114
- Name
- collagen, type IV, alpha 1
- Symbol
- col4a1 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. Predicted to be involved in extracellular matrix organization. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including cardiovascular system; digestive system; integument; pronephros; and sensory system. Human ortholog(s) of this gene implicated in brain small vessel disease 1; myocardial infarction; retinal arterial tortuosity; and uterine fibroid. Orthologous to human COL4A1 (collagen type IV alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157877 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Stratman et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| col4a1_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| fh336 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa16923 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21437 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa27345 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34559 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34560 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41357 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45346 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| st93 | Allele with one deletion | Unknown | Unknown | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col4a1 | Simões et al., 2020 | |
| CRISPR2-col4a1 | Simões et al., 2020 | |
| CRISPR3-col4a1 | Simões et al., 2020 | |
| MO1-col4a1 | N/A | Stratman et al., 2017 |
| TALEN1-col4a1 | Stratman et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| brain small vessel disease 1 | Alliance | Brain small vessel disease with or without ocular anomalies | 175780 |
| retinal arterial tortuosity | Alliance | ?Retinal arteries, tortuosity of | 180000 |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 611773 | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 618564 | ||
| {Hemorrhage, intracerebral, susceptibility to} | 614519 |
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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:A0A8N7UT91 | InterPro | 1640 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col4a1-201
(1)
|
Ensembl | 5,961 nt | ||
| mRNA |
col4a1-202
(1)
|
Ensembl | 3,954 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 | CH73-182O2 | ZFIN Curated Data | |
| Contained in | BAC | CH211-174G17 | ZFIN Curated Data | |
| Encodes | EST | fj65e07 | ||
| Encodes | EST | IMAGE:7157877 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_688948 (1) | 9520 nt | ||
| Genomic | GenBank:FP103004 (2) | 87174 nt | ||
| Polypeptide | UniProtKB:A0A8N7UT91 (1) | 1640 aa |
- 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
- 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
- Mizoguchi, T., Okita, M., Minami, Y., Fukunaga, M., Maki, A., Itoh, M. (2023) Age-dependent dysfunction of the cerebrovascular system in the zebrafish telencephalon. Experimental gerontology. 178:112206
- 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
- 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
- Simões, F.C., Cahill, T.J., Kenyon, A., Gavriouchkina, D., Vieira, J.M., Sun, X., Pezzolla, D., Ravaud, C., Masmanian, E., Weinberger, M., Mayes, S., Lemieux, M.E., Barnette, D.N., Gunadasa-Rohling, M., Williams, R.M., Greaves, D.R., Trinh, L.A., Fraser, S.E., Dallas, S.L., Choudhury, R.P., Sauka-Spengler, T., Riley, P.R. (2020) Macrophages directly contribute collagen to scar formation during zebrafish heart regeneration and mouse heart repair. Nature communications. 11:600
- Wang, X., Giusti, A., Ny, A., de Witte, P.A. (2020) Nephrotoxic Effects in Zebrafish after Prolonged Exposure to Aristolochic Acid. toxins. 12(4):
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- 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
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